Volume 28

Neuromuscular Disorders

Volume 28

1

Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy” [Neuromuscular disorders 27/11 (2017) 1043–1046]

Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 313 KB

english, 2018

2

Commentary from the Editor

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 317 KB

english, 2018

3

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, D

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1014 KB

english, 2018

4

Zebrafish as a model of diseases of the RNA exosome

Burns, D.T., Munro, B., Giunta, M., Müller, J.S., Horvath, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 25 KB

english, 2018

5

Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise

Ziff, O., Lombardi, V., Zampedri, L., Querin, G., Bertolin, C., Greensmith, L., Hanna, M., Zetterberg, H., Heslegrave, A., Soraru, G., Malaspina, A., Fratta, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

6

The maintenance of muscle mass through the neutralisation of Myostatin activity in diseases and aging

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

7

Unusual presentation of neuropathy related to lead toxicity mimicking Guillain-Barré syndrome

Sarraf, P., Habibi, A., Tafakhori, A., Ranji, S., Motamedi, D., Bitarafan, S., Ghaffarpour, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

8

Mitochondrial genetic diagnostics in Oxford: a 25-year journey of service developments and novel findings

Fratter, C., Sergeant, K., Smith, C., Brown, R., Seller, A., Brown, G., Poulton, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

9

Using zebrafish to model mitochondrial DNA depletion syndromes caused by DGUOK mutations

Müller, J.S., Munro, B., Horvath, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 38 KB

english, 2018

10

In vitro modelling of mitochondrial disease using human induced pluripotent stem cell (hIPSC) derived myotubes harbouring mtDNA mutations

O’Callaghan, B., Hanna, M.G., Morgan, J., Houlden, H., Madej, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

11

An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin

Johnson, K., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Töpf, A., Lek, M., Xu, L., Mullen, T., Valkanas, E., MacArthur, D.G., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

12

Risk factors for nerve injury after total hip arthroplasty: a case control study

Shetty, T., Nguyen, J.T., Wu, A., Cogsil, T., Sasaki, M., Bogner, E., Burge, A., Su, E.P., Lyman, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 24 KB

english, 2018

13

Risk factors for nerve injury after total knee arthroplasty: a case control study

Shetty, T., Nguyen, J.T., Sasaki, M., Wu, A., Bogner, E., Burge, A., Cogsil, T., Dalal, A., Halvorsen, K., Cummings, K., Su, E.P., Lyman, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

14

Monitoring pregnancy in Charcot-Marie-Tooth disease: complications related to pregnancy and delivery

Skorupinska, M., Laurá, M., Bull, K., Byrne, B., Reilly, M.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

15

Development of a home-based assessment tool for monitoring fluctuations in physical function and muscle performance in the myasthenic population

Selby, V., Ramdharry, G., Hanna, M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

16

Prevent skeletal muscle aging signs in progeric mice model: is it possible?

Alyodawi, K., Patel, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

17

Generation of three-dimensional artificial skeletal muscle constructs from human pluripotent stem cells for complex disease modelling of muscular dystrophies

Maffioletti, S.M., Sarcar, S., Henderson, A.B.H., Mannhardt, I., Pinton, L., Moyle, L.A., Steele-Stallard, H., Cappellari, O., Wells, K., Ragazzi, M., Wang, W., Zammit, P., Wells, D., Eschenhagen, T.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

18

The “hidden” mitochondrial genome: a novel bioinformatic approach for extracting and analysing mitochondrial DNA from nuclear genomic NGS sequence data at the Institute of Neurology, Queen Square

Poole, O.V., Murphy, D., Woodward, C., Bugiardini, E., Hardy, J., Houlden, H., Hanna, M.G., Pittman, A., Pitceathly, R.D.S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

19

Natural history and mortality studies in mitochondrial diseases: a systematic literature review

Skorupinska, I., Bugiardini, E., Hanna, M.G., Pitceathly, R.D.S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

20

Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3-year-old child

Ricci, F., Scalco, R.S., Mongini, T., Ferrero, G.B., Manole, A., Bertini, E., Desikan, M., Moroni, I., Di Rocco, M., Jungbluth, H., Quinlivan, R., Houlden, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

21

Slice profile-corrected maximum likelihood estimation of muscle water T 2

Zafeiropoulos, N., Janiczek, R.L., Yousry, T.A., De Vita, E., Sinclair, C.D.J., Wastling, S., Thornton, J.S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

22

Clonally expanded mtDNA deletions in human skeletal muscle originate as a proliferative perinuclear niche

Vincent, A.E., Rosa, H.S., Pabis, K., Lawless, C., Grünewald, A., Chen, C., Rygiel, K.A., Reeve, A.K., Rocha, M.C., Falkous, G., Perissi, V., McWilliams, T.G., Ganley, I.G., White, K., Davey, T., Petr

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 40 KB

english, 2018

23

Novel loss-of-function mutation in ACBD5 found in family with ataxia

Sullivan, R., O’Connor, E., Lynch, D., Hanna, M., Houlden, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

24

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants

Finsterer, Josef, Zarrouk-Mahjoub, Sinda

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 349 KB

english, 2018

25

Analysis of premature mortality in a cohort of adult Duchenne muscular dystrophy

Nastasi, L., Desikan, M., Price, S., Crummy, F., Khan, J., Hanna, M., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

26

AMO-02 (tideglusib) for the treatment of congenital and childhood onset myotonic dystrophy type 1

Horrigan, J., McMorn, A., Snape, M., Nikolenko, N., Gomes, T., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

27

22nd World Muscle Society Congress Saint Malo 2017

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 5.61 MB

english, 2018

28

RNA toxicity versus GSK3B dysfunction in myotonic dystrophy type 1: an exploratory review of the literature

Gomes, T., Jimenez-Moreno, A.C., Roos, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

29

Pulmonary function in patients with advanced-stage Duchenne muscular dystrophy: eteplirsen-treated patients compared with a natural history cohort

Gordish-Dressman, H., Henricson, E., Han, L., Dugar, A., McDonald, C.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

30

Development of CRISPR/dCas9 systems to address muscle fibrosis in Duchenne muscular dystrophy

March, J.T., Dickson, G., Popplewell, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

31

Neuropathophysiology of Duchenne muscular dystrophy: involvement of the dystrophin isoform Dp71 in cell migration and proliferation

Ash, A., Machado, L., Raleigh, S.M., Anthony, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

32

Dissecting TDP-43 gain- and loss-of-function in neurodegeneration

Sivakumar, P., Humphrey, J., Lo, K., Ricketts, T., Oliveira, H., Kalmar, B., Wang, E., Housman, D., Baralle, F., Greensmith, L., Buratti, E., Plagnol, V., Fisher, E.M.C., Arozena, A.A., Fratta, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

33

Developing a novel technique of imaging mass cytometry for use in skeletal muscle

Warren, C., Vincent, A.E., Filby, A., Turnbull, D.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

34

Golodirsen induces exon skipping leading to sarcolemmal dystrophin expression in patients with genetic mutations amenable to exon 53 skipping

Muntoni, F., Frank, D.E., Morgan, J., Domingos, J., Schnell, F.J., Dickson, G., Popplewell, L., Guglieri, M., Seferian, A., Monforte, M., Mercuri, E., Servais, L., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 25 KB

english, 2018

35

The natural history of POEMS syndrome

Keddie, S., Foldes, D., Caimari, F., Baldeweg, S.E., D’Sa, S., Lunn, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

36

Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype

Sardone, V., Domingos, J., Torelli, S., Jones, A., Ellis, M., Phadke, R., Eastwood, D., Leturcq, F., Yaour, R.B., Maqsood, F., Urankar, K., Roper, H., Majumdar, A., Barresi, R., Straub, V., Ricci, E.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 25 KB

english, 2018

37

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa, Roberta, Magri, Francesca, Papadimitriou, Dimitra, Govoni, Alessandra, Del Bo, Roberto, Ciscato, Patrizia, Savarese, Marco, Cinnante, Claudia, Walter, Maggie C., Abicht, Angela, Bulst, Stefanie

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

38

Proteomic evaluation of Pip6a-PMO treatment for myotonic dystrophy type 1

Holland, A., Varela, M., Hazell, G., Klein, A.F., Arzumanov, A., Raz, R., Gait, M.J., Furling, D., Wood, M.J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 25 KB

english, 2018

39

The use of nusinersen in the “real world”: the UK and Ireland experience with the expanded access program (EAP)

Scoto, M., Manzur, A., Main, M., Munot, P., Tillmann, R., Marini Bettolo, C., Mayhew, A., Muni-Lofra, R., White, K., Baxter, P., Tirupathi, S., Douglas, I., Douglas, M., Macauley, S., Childs, A.-M., O

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 33 KB

english, 2018

40

Effects of mini-dystrophin on DMD skeletal muscle stem cells

Meng, J., Counsell, J., Muntoni, F., Morgan, J.E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

41

In-depth analysis of circulating microRNAs in serum of SMA patients

Zaharieva, I., Bollen, E., Scoto, M., Zhou, H., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

42

Slope analysis of 6-minute walk distance as an alternative method to determine treatment effect in trials in Duchenne muscular dystrophy

Trifillis, P., Werner, C., Souza, M., Elfring, G.L., Luo, X., McIntosh, J., Peltz, S.W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

43

CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect

Oláhová, M., Collier, J., Heidler, J., Thompson, K., Lightowlers, R.N., Chrzanowska-Lightowlers, Z.M.A., Wittig, I., Taylor, R.W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 38 KB

english, 2018

44

Quantitative 3D mapping of the skeletal muscle mitochondrial network in health and mtDNA disease

Vincent, A.E., White, K., Davey, T., Philips, J., Hall, M.G., Ng, Y., Falkous, G., Holden, T., Deehan, D., Taylor, R.W., Turnbull, D.M., Picard, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

45

Clinical and Genetic analysis of Egyptian hereditary spastic paraplegia using next generation sequencing

Haridy, N.A., Chelban, V., Vandrovcova, J., Efthymiou, S., Abd El-Hamed, M.A., Hamed, S.A., Houlden, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

46

Molecular diagnostics of Mendelian disorders via RNA sequencing

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

47

A phase 2 trial of the safety and pharmacokinetics of ataluren in patients aged ≥2 to

Kong, R., O’Mara, E., Luo, X., Trifillis, P., Werner, C., McIntosh, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 51 KB

english, 2018

48

Brain imaging indicates genotype-phenotype association in Duchenne muscular dystrophy

Doorenweerd, N., Bettolo, C.M., Hollingsworth, K.G., Hendriksen, J.G.M., Niks, E.H., Straub, V., Kan, H.E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

49

Longitudinal neuropsychological outcomes and structural connectivity of the brain in Duchenne muscular dystrophy

Maresh, K.E., Seunarine, K., Clark, C., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

50

Meta-analyses of ataluren in patients with nonsense mutation Duchenne muscular dystrophy

Muntoni, F., Mercuri, E., Luo, X., Elfring, G., Werner, C., Trifillis, P., Peltz, S.W., McDonald, C.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 43 KB

english, 2018

51

Mitochondrial ribosomal protein S25 (MRPS25) mutations impair ribosomal assembly and cause mitochondrial encephalomyopathy with partial agenesis of the corpus callosum

Bugiardini, E., Mitchell, A., Dalla Rosa, I., Menunni, M., Pittmann, A., Poole, O., Holton, J., Quinlivan, R., Holt, I., Houlden, H., Hanna, M.G., Spinazzola, A., Pitceathly, R.D.S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 39 KB

english, 2018

52

Targeting ubiquitin pathways to develop new therapies for neuromuscular disease

Gillingwater, T.H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

53

Combining iPS cell-derived myogenic progenitors and human artificial chromosomes as a potential genomic integration-free cell and gene therapy for Duchenne muscular dystrophy

Ferrari, G., Hoshiya, H., Ragazzi, M., Casteels, T., Maffioletti, S.M., Uno, N., Kazuki, Y., Muntoni, F., Oshimura, M., Tedesco, F.S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

54

Strategies for treating myotonic dystrophy type 1 (DM1)

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 27 KB

english, 2018

55

A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features

Ardicli, D., Zaharieva, I., Phadke, R., Scoto, M.C., Borrel, L.M., Laurie, S., Agullo, S.B., Sarkozy, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 38 KB

english, 2018

56

Myostatin expression in neuromuscular diseases

Mariot, V., Le Guiner, C., Inès, B., Hourdé, C., Montus, M., Blot, S., Voit, T., Dumonceaux, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

57

Update of antisense oligonucleotide therapy in COL6-related congenital muscular dystrophy

Zhou, H., Perez, C.M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 38 KB

english, 2018

58

Oligonucleotide therapies for neuromuscular disease

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 27 KB

english, 2018

59

The changing scenario of molecular genetic diagnostics for neuromuscular diseases

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

60

Downregulation of miR-29 and miR-23 in urine of Duchenne muscular dystrophy patients

Catapano, F., Domingos, J., Perry, M., Ricotti, V., Phillips, L., Servais, L., de Groot, I., Niks, E.H., Verschuuren, J.J.G.M., Straub, V., Voit, T., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

61

Diagnostic challenges in paediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy

Pal-Magdics, M., Phadke, R., Pilkington, C., Maltby, S.L., Wood, M., Munot, P., Manzur, A., Sarkozy, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

62

Myostatin is a reliable biomarker for monitoring drug response in DMD

Mariot, V., Le Guiner, C., Inès, B., Hourdé, C., Montus, M., Blot, S., Voit, T., Dumonceaux, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

63

Region specific glial stress responses: implications for ALS

Clarke, B., San Gil, R., Yip, J., Kalmar, B., Greensmith, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

64

Therapeutic advances in hereditary ATTR amyloidosis

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 27 KB

english, 2018

65

Can forced vital capacity (FVC) or maximal inspiratory pressure (MIP) be used to predict changes in mobility, swallowing and/or cough peak flow in patients with type 1 myotonic dystrophy?

Massey, C., Allen, J., Nikolenko, N., Speigel, L., Jimenez-Moreno, A.C., Lochmuller, H., Turner, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

66

Metabolomics analysis in serum of muscular dystrophy patients

Spitali, P., Hettne, K., Tsonaka, R., Sabir, E., Seyer, A., Hemerik, J.B.A., Goeman, J.J., Picillo, E., Ergoli, M., Politano, L., Aartsma-Rus, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 25 KB

english, 2018

67

Outcome measures for central nervous system symptoms in myotonic dystrophy type 1: insights from a case-controlled study

Hamilton, M.J., McLean, J., Cumming, S., Ballantyne, B., McGhie, J., Jampana, R., Longman, C., Evans, J.J., Monckton, D.G., Farrugia, M.E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

68

Determination of the minimal clinically important difference (MCID) for clinical trial outcome measures in Duchenne Muscular Dystrophy (DMD)

Pitchforth, J.M., Domingos, J., Iodice, M., Mayhew, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

69

Interrogating mitochondrial dysfunction and ageing in facial appearance and ageing

Stefanetti, R.J., Dlay, S., Birch-Machin, M., Stout, R., Dyer, C., Newman, J., McFarland, R., Turnbull, D., Catt, M., Gorman, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 26 KB

english, 2018

70

Dr Joana Domingos (1984–2018)

Muntoni, Francesco, Hanna, Mike, Reilly, Mary

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 430 KB

english, 2018

71

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 85 KB

english, 2018

72

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 85 KB

english, 2018

73

Potential and challenges of using NMRI/NMRS as a biomarker/endpoint for clinical studies in neuromuscular disease

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 22 KB

english, 2018

74

Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

James, M.K., Jacobs, M., Mayhew, A., Feng, J., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 19 KB

english, 2018

75

Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures

Fernández-Torrón, R., James, M.K., Mayhew, A., Eagle, M., Muni Lofra, R., Díaz-Manera, J., Blamire, A.M., Carlier, P.G., Hilsden, H., Stojkovic, T., Walter, M.C., Coppenrath, E.M., Peduto, A., Jones,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 26 KB

english, 2018

76

Masseter muscle volume correlates with disease duration in adults with myotonic dystrophy type 1 (DM1)

Hocking, C., McLean, J., Cumming, S., Ballantyne, B., McGhie, J., Jampana, R., Longman, C., Farrugia, M.E., Monckton, D.G., Hamilton, M.J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 25 KB

english, 2018

77

Use of a ≥5-second threshold in baseline time to stand from supine to predict disease progression in Duchenne muscular dystrophy

McDonald, C.M., Souza, M., Elfring, G.L., McIntosh, J., Werner, C., Trifillis, P., Peltz, S.W., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 43 KB

english, 2018

78

Cardiorespiratory function in Duchenne muscular dystrophy in a UK large tertiary care centre: longitudinal progression and the role of steroid treatment

Domingos, J., Tay, C.G., Ridout, D., Munot, P., Sarkozy, A., Robb, S., Quinlivan, R., Riley, M., Burch, M., Fenton, M., Wallis, C., Chan, E., Abel, F., Manzur, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

79

Multiple administration of allo-CDCs showed additional improvement when compared with single treatment in a Duchenne muscular dystrophy model

Johnson, J., Kanagavelu, S., Rachid, H., Sakoda, C., Li, L., Vaturi, S., Fournier, M., Smith, R., Marban, L., Al-Daccak, R., Rodriguez-Borlado, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

80

Assessment of a 6-minute walk test (6MWT) for non-invasive, phenotypic evaluation of deltaE50-MD dogs, a preclinical model of Duchenne muscular dystrophy

Harron, R., Wells, D.J., Piercy, R.J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

81

Effect of idebenone on bronchopulmonary adverse events and hospitalizations in patients with Duchene muscular dystrophy (DMD)

Lawrence, C., Warnock, A., McDonald, C., Mayer, O., Meier, T., Leinonen, M., Buyse, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

82

Efficacy of idebenone in respiratory decline in Duchenne muscular dystrophy (DMD): comparison of analysis methods

Warnock, A., Lawrence, C., Leinonen, M., Buyse, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

83

The UK Myotonic Dystrophy Patient Registry: a key tool in the facilitation of clinical research

Cammish, P., Wood, L., Lochmuller, H., Gorman, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 24 KB

english, 2018

84

Extracellular myomiR abundance is not clearly correlated with skeletal muscle dystrophin expression in mdx mice with skewed X-chromosome inactivation

van Westering, T., Coenen-Stass, A.M.L., Hulsker, M., Aartsma-Rus, A., Wood, M.J.A., van Putten, M., Roberts, T.C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

85

Clinical relevance of regular blood monitoring in long-term immunoglobulin treatment

Compton, L., Kapoor, M., Groves, J., Nihoyannopoulos, L., Cade, R., Morrow, S., Gosal, D., Rossor, A., Manji, H., Reilly, M.M., Lunn, M.P., Carr, A.S., Lavin, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

86

Preliminary data from a survey looking at walking aid use in people with Charcot-Marie-Tooth disease

Dudziec, M., Reilly, M.M., Ramdharry, G.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

87

Immunoglobulin dosing in inflammatory neuropathy: an induction, maintenance and cessation algorithm

Groves, J., Compton, L., Kapoor, M., Rossor, A., Manji, H., Reilly, M.M., Lunn, M.P., Carr, A.S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 78 KB

english, 2018

88

Serum biomarker discovery for Charcot-Marie-Tooth disease

Jennings, M.J., Roos, A., Horvath, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 56 KB

english, 2018

89

Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity

Rossor, A.M., Sandelius, A., Adiutori, R., Malaspina, A., Blennow, K., Zetterberg, H., Reilly, M.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

90

Do diverse Charcot-Marie-Tooth disease-causing mutations show convergent disease pathomechanisms? Investigation of mitochondrial dysfunction in CMT

Sarajarvi, V., Kalmar, B., Fernandes, I., Reilly, M.M., Greensmith, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

91

Functional characterisation of a mouse model of DOK7 congenital myasthenic syndrome and response to treatment with salbutamol

Webster, R.G., Vanhaesebrouck, A.E., Maxwell, S.E., Cossins, J.A., Beeson, D.M.W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

92

An audit of acetazolamide use in genetic channelopathies

Suetterlin, K., James, N., Sud, R., Holmes, S., Fialho, D., Hanna, M.G., Matthews, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

93

Pilot study to explore the frequency and severity of pain in skeletal muscle channelopathies

James, N., Holmes, S., Skorupinska, I., Germain, L., Sud, R., Hanna, M.G., Matthews, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

94

Ataluren increases functional expression of R894X mutant skeletal muscle voltage gated chloride channels in vitro

Suetterlin, K., Matthews, E., Männikkö, R., Hanna, M.G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

95

Low mitochondrial DNA copy number suggests abnormal mitophagy in inclusion body myositis

Brady, S., Wang, E., Carver, J., Hofer, M., Diot, A., Hilton, D., Hilton-Jones, D., Poulton, J., Fratter, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

96

Abstract withdrawn

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

97

Biochemical markers of primary mitochondrial respiratory chain enzyme disorders

Lam, A., Neergheen, V., Chalasani, A., Salih, K., Pope, S., Hargreaves, I., Prunty, H., Heales, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

98

Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy

Oláhová, M., Scialo, F., Sriram, A., Alston, C.L., He, L., Kokai, G.K., Morris, A., Sanz, A., Taylor, R.W., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

99

Understanding the mechanism underpinning the transmission of mtDNA mutations

Pezet, M., Gomez-Duran, A., Aryaman, J., Jones, N.S., Chinnery, P.F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

100

Identification of a novel kinase target in DM pathophysiology

Ketley, A., Ghidelli-Disse, S., Bamborough, P., Ghosh, T.K., Sedehizadeh, S., Tang, Z., Powalowska, P., Bösche, M., Bantscheff, M., Rüdiger, M., Mossakowska, D.E., Drewry, D.H., Zuercher, W.J., Thornt

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

101

Evaluating the 12-minute walk test in McArdle disease

Chatfield, S., Booth, S., Godfrey, R., Pattni, J., Scalco, R., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

102

DMD HUB: expanding clinical trial capacity for Duchenne muscular dystrophy in the UK

Heslop, E., Guglieri, M., Bushby, K., Turner, C., Davis, B., Litchfield, N., Crossley, E., Johnson, A., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

103

McArdle disease patient completing the London Marathon with no serious adverse events

Pietrusz, A., Scalco, R., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

104

Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies

Sa, M., Sarkozy, A., Manzur, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

105

Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies

Ala, P., Torelli, S., Phadke, R., Feng, L., Main, R., Ardicli, D., Sarkozy, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

106

Reducing unplanned hospital admissions in patients with neuromuscular diseases: an NHS re-audit

Scalco, R.S., Nastasi, L., Hanna, M.G., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

107

Author index

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 29 KB

english, 2018

108

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

109

MRI evaluation of the pelvic limb and lumbar muscles of the deltaE50-MD dog model of Duchenne muscular dystrophy

Hornby, N., Drees, R., Wells, D.J., Piercy, R.J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

110

Genes, modifiers and other oddities in mitochondrial translation deficiencies

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

111

Manipulating mitochondrial ROS production as a therapeutic strategy

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 10 KB

english, 2018

112

Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Tiet, M., Fernandez-Torrón, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 33 KB

english, 2018

113

What is wrong with nuclei in Transportin 3 (TPNO3)-related muscular dystrophy?

Curtis-Wetton, E., Ross, J.A., Levy, Y., Vilchez, J.J., Ochala, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

114

Measuring activity and sedentary behaviour in people with muscle ion channelopathy and myotonic dystrophy type 1, and assessing the use of individual goal setting to support increasing habitual physical activity

Holmes, S., Massey, C., James, N., Skorupinska, I., Germain, K., Suetterlin, L., Sud, R., Matthews, E., Hanna, M., Turner, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

115

Progressive age-associated decline in resistance to electrically-induced repetitive eccentric tibiotarsal flexion torque in the deltaE50-MD dog

Riddell, D., Harron, R., Taylor-Brown, F., Wells, D.J., Piercy, R.J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

116

Characterising the skeletal muscle histological phenotype of the DeltaE50-MD dog, a preclinical model of Duchenne muscular dystrophy

Hildyard, J., Rawson, F., Harron, R., Riddell, D., Massey, C., Taylor-Brown, F., Wells, D.J., Piercy, R.J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

117

Comparison of clinical factors that impact disease activity in patients with inflammatory neuropathies

Kapoor, M., Carr, A., Lunn, M., Reilly, M.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

118

Establishing motor neuron and astrocytic cultures to study spinal and bulbar muscular atrophy

Devine, H.E., Malik, B., Mitchell, J., Greensmith, L., Patani, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 39 KB

english, 2018

119

RCT of bumetanide in hypokalaemic periodic paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure

Scalco, R.S., Morrow, J., Manole, A., Skorupinska, I., Bellin, A., Ricciardi, F., Matthews, E., Hanna, M.G., Fialho, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

120

The role of nidogens, a family of basement membrane proteins, at the neuromuscular junction in health and degeneration

Meyer, I.F.G., Schiavo, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

121

Adrenergic agonists modulate neuromuscular junction formation in zebrafish models of human myasthenic syndromes

McMacken, G., Cox, D., Roos, A., Müller, J., Whittaker, R., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

122

Strengthening the neuromuscular junction as a concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction

Howarth, R., Spendiff, S., McMacken, G., Cipriani, S., Roos, A., Horvath, R., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

123

Determining the threshold for Complex I and Complex IV deficiency in patients with the m.3243A>G MT-TL1 mutation

Ahmed, S.T., Ban, R., Rocha, M.C., Pickett, S.J., Taylor, R.W., Turnbull, D.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

124

mtDNA polymorphic variants as metabolic hubs

Gomez-Duran, A., Xu, Y., Golder, Z., Hudson, G., Santibanez-Koref, M., Ruiz-Pesini, E., Chinnery, P.F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 38 KB

english, 2018

125

Investigating the mechanisms involved in germline transmission of a heteroplasmic mtDNA variant

Burr, S.P., Floros, V.I., Gottgens, B., Chinnery, P.F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

126

Strength training in McArdle disease

Pietrusz, A., Scalco, R., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

127

Neuro-muscular bridges: development of an evidence based selfmanagement resource for people with neuro-muscular diseases

Ramdharry, G.M., Jones, F., Holmes, S., James, N., Booth, S., Reilly, M.M., Hanna, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

128

The genomic era: molecular genetics as the first line investigation

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 16 KB

english, 2018

129

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Doorenweerd, N., Mahfouz, A., van Putten, M., Kaliyaperumal, R., ’t Hoen, P.A.C., Hendriksen, J.G.M., Aartsma-Rus, A., Verschuuren, J.J.G.M., Niks, E.H., Reinders, M.J.T., Kan, H.E., Lelieveldt, B.P.F

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 18 KB

english, 2018

130

Profile of circadianly regulated metabolic genes in dystrophic heart

Betts, C.A., van Westering, T.L.E., Bowerman, M., McClorey, G., Meijboom, K., Wood, M.J.A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 30 KB

english, 2018

131

Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing

Khan, A.M., Sultan, T., Kriouile, Y., Pipis, M., Vandrovcova, J., Tariq, H., Efthymiou, S., Salpietro, V., Reilly, M.M., Houlden, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

132

Testing a novel therapy in a MYO9A-related Congenital Myasthenic Syndrome zebrafish model

O’Connor, E., Phan, V., Cairns, G., Cordts, I., Hettwer, S., Roos, A., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

133

Beneficial effect of salbutamol added to pyridostigmine in myasthenic mice is directly related to neuromuscular junction structure changes

Vanhaesebrouck, A., Webster, R., Maxwell, S., Liu, W., Cetin, H., Cheung, J., Wickens, J., Beeson, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 37 KB

english, 2018

134

Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L.E., Stroud, D.A., Garett, M., Lax, N.Z., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallabrera, C., Hardy, S.A., He, L., Brown, G.K., Martti

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 19 KB

english, 2018

135

Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases

Bellin, A., Bushby, K.M., Chinnery, P., Germain, L., Kozyra, D., Holton, J., Houlden, H., Laurá, M., Lochmüller, H., Lunn, M., McFarland, B., Matthews, E., Miller, J., Morrow, J., Muntoni, F., Parton,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 19 KB

english, 2018

136

Clinical research activity in the Newcastle MRC Centre for Neuromuscular Disease

Peel, A., Jordison, C., Brown, L., Davis, B., Robertson, A., Dyer, C., Straub, V., Lochmuller, H., Guglieri, M., Turnbull, D., Trenell, M., Horvath, R., McFarland, R., Gorman, G., Miller, J., Bushby,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 24 KB

english, 2018

137

Referrals to psychology within a neuromuscular service: what do patients want to talk about?

Pattni, J., Clark, H., Desikan, M., Scalco, R., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 31 KB

english, 2018

138

Quantitative methods to monitor RNA biomarkers in myotonic dystrophy

Wojciechowska, M., Sobczak, K., Sedehizadeh, S., Kozlowski, P., Czubak, K., Markus, R., Brook, J.D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

139

Obituary – Professor Jaap Bethlem (1924–2017)

Jennekens, Frans, de Visser, Marianne

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 492 KB

2018

140

Giovanni Nigro 1931–2017

Politano, Luisa, Nigro, Vincenzo

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 421 KB

2018

141

Obituary – Professor Jaap Bethlem (1924–2017)

Jennekens, Frans, de Visser, Marianne

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 492 KB

english, 2018

142

Giovanni Nigro 1931–2017

Politano, Luisa, Nigro, Vincenzo

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 421 KB

english, 2018

143

SMA THERAPIES I

Day, J., Feltner, D., Ogrinc, F., Macek, T., Wells, C., Muehring, L., Italien, J.L., Sproule, D., Nagendran, S., Kaspar, B., Mendell, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

144

NEUROMUSCULAR JUNCTION DEFECTS

Ruegg, M., Castets, P., Lin, S., Brenner, H., Ham, D., Rich, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 173 KB

english, 2018

145

I.2New genes and better treatment for congenital myasthenic syndromes

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 173 KB

english, 2018

146

MYASTHENIA GRAVIS

Verschuuren, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 215 KB

english, 2018

147

NEW GENES, FUNCTIONS AND BIOMARKERS

Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., Iannaccone, S., MacArthur, D., Foley, A.R., Schwake, M., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

148

NEW GENES, FUNCTIONS AND BIOMARKERS

van de Locht, M., Winter, J., Conijn, S., Ma, W., Helmes, M., Irving, T., Donkervoort, S., Mohassel, P., Medne, L., Quinn, C., Neto, O., Moore, S., Foley, A.R., Voermans, N., Bönnemann, C., Ottenheijm

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

149

NEW GENES, FUNCTIONS AND BIOMARKERS

Sasaki-Honda, M., Jonouchi, T., Arai, M., Hotta, A., Mitsuhashi, S., Nishino, I., Matsuda, R., Sakurai, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 104 KB

english, 2018

150

NEW GENES, FUNCTIONS AND BIOMARKERS

van den Heuvel, A., Mahfouz, A., Kloet, S., Balog, J., van Engelen, B., Tawil, R., Tapscott, S., van der Maarel, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

151

NEW GENES, FUNCTIONS AND BIOMARKERS

Darras, B., Finkel, R., Mercuri, E., Sumner, C., Oskoui, M., Tizzano, E., Ryan, M., Zhao, G., Petrillo, M., Stebbins, C., Farwell, W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

152

NEW GENES, FUNCTIONS AND BIOMARKERS

Reyngoudt, H., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

153

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Coimbra Neto, A., Leoni, T., Rosa, T., Iwabe-marchese, C., Martinez, A., Nucci, A., Franca, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

154

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Gonzalez-Quereda, L., Garrabou, G., Rodriguez, M., Gallano, P., Sanchez, A., Grau, J., Milisenda, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

155

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Luo, S., Cai, S., Gao, M., Xi, J., Liu, Z., Yue, D., Lu, J., Zhao, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

156

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Khawajazada, T., de Stricker Borch, J., Rudolf, K., Dahlqvist, J., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

157

LIMB-GIRDLE MUSCULAR DYSTROPHY I

De Luna, N., Suárez-Calvet, X., Garicano, M., Fernández-Simón, E., Rojas-Garcia, R., Diaz-Manera, J., Querol, L., Illa, I., Gallardo, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

158

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Shin, J., Seo, K., Park, J., Kim, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

159

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Park, H., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

160

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Gómez-Andrés, D., Díaz, J., Munell, F., Sánchez-Montáñez, A., Pulido-Valdeolivas, I., Suazo, L., Garrido, C., Bevilacqua, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

161

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Diaz-Manera, J., Fernández-Torron, R., James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 111 KB

english, 2018

162

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Fernandez-Torron, R., Diaz-Manera, J., James, M., Mayhew, A., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshim

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

163

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Karaduman, A., Alemdaroğlu Gürbüz, I., Acar Aslan, E., Güngör, M., Bulut, N., Aydin, G., Yilmaz, Ö., Talim, B., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 108 KB

english, 2018

164

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Garrido, C., Palavra, F., Cardoso, M., Sousa, A., Rocha, R., Alves, D., Santos, M., Vila Real, M., Vieira, J., Coelho, T., Fineza, I., Moreno, T., Santos, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

165

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Wang, L., Xu, M., Li, H., Zhang, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

166

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Verhaart, I., Fiorotto, M., De Luca, A., Wong, S., Quinlivian, R., Davidson, Z., van den Engel-Hoek, L., van Putten, M., de Roos, N., Kinnett, K., Saure, C., Dorchies, O., Roberts, I., Franken-Verbeek

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

167

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Saure, C., De Castro Perez, F., Monges, s., Caminiti, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

168

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Miranda, M., Yaeko, A., Sá, C., Grossklauss, L., Favero, F., Voos, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

169

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Arahata, H., Miyoshi, A., Watanabe, A., Kawano, Y., Yamamoto, A., Sasagasako, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

170

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Hellebrekers, D., Lionarons, J., Klinkenberg, S., Faber, C., Hendriksen, J., Vles, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

171

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Hellebrekers, D., Doorenweerd, N., Sweere, D., Kuijk, S., Aartsma-Rus, A., Klinkenberg, S., Vles, J., Hendriksen, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

172

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Bendixen, R., Kelleher, A., Little, N., Feltman, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 58 KB

english, 2018

173

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Karafilidis, J., Mayer, O., Griffin, B., Higgins, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 58 KB

english, 2018

174

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Jáuregui, A., Mesa, L., Corderí, J., Chloca, F., Flores, D., Dubrovsky, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

175

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Ogasawara, M., Ishiyama, A., Takeshita, E., Shimizu-Motohashi, Y., Komaki, H., Sasaki, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

176

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Kertesz, N., Kamp, A., Thompson, W., Barth, A., Law, I., Batlivala, S., Hanlon, N., Fournier, A., Spurney, C., Mori-Yoshimura, M., Markham, L., Cripe, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

177

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Wang, L., Chen, M., He, R., Sun, Y., Yang, J., Xiao, L., Cao, J., Zhang, H., Zhang, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

178

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Maeda, Y., Ishizaki, M., Nakajyo, Y., Yonemochi, Y., Ueyama, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 105 KB

english, 2018

179

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Souza, L., Tavares, P., Passos, S., Iwabe-Marchese, C., Rosa, T., Nucci, A., França Jr, M., Dertkigil, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

180

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Forbes, S., Willcocks, R., Triplett, W., Arora, H., Rooney, W., Wang, D., Daniels, M., Finanger, E., Finkel, R., Tennekoon, G., Sweeney, H., Walter, G., Vandenborne, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

181

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Naarding, K., Reyngoudt, H., van Zwet, E., Hooijmans, M., Wong, B., Tian, C., Rybalsky, I., Shellenbarger, K., Le Louër, J., Carlier, P., Kan, H., Niks, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

182

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Heatherington, A., Muntoni, F., Vandenborne, K., Layton, G., Roblin, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

183

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Stuij, W., Jansen, M., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

184

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS

Johnston, T., Hor, K., Mah, M., Cripe, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

185

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Schülke, M., Stenzel, W., Schwarz, M., Goebel, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

186

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Saade, D., Lee, M., Bharucha-Goebel, D., Donkervoort, S., Neuhaus, S., Alter, K., Zampieri, C., Stanley, C., Matsubara, J., Nickolls, A., Micheil Innes, A., Mah, J., Grosmann, C., Nascimento, A., Colo

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

187

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

188

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Reimann, J., Scholtes, C., Cremer, K., Schoenberger, S., Kunz, W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

189

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Aizpurua, M., Cepas, F., Sarkozy, A., Manzur, A., Muntoni, F., Sewry, C., Phadke, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

190

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Böhm, J., Malfatti, E., Oates, E., Jones, K., Romero, N., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

191

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Duband-Goulet, I., Catervi, F., Cabet, E., Davignon, L., Genetti, C., Gidaro, T., Koparir, A., Coppen, S., Pierce-Hoffman, E., Beggs, A., Servais, L., Ferreiro, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

192

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Camelo, C., Da Silva, A., Reed, U., Bönnemann, C., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

193

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Garibaldi, M., Rendu, J., Brocard, J., lacene, E., Beuvin, M., Brochier, G., Labasse, C., Madelaine, A., Malfatti, E., Bevilacqua, J., Lubieniecki, F., Monges, S., Taratuto, A., Marty, I., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

194

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Todd, J., Witherspoon, J., Kushnir, A., Reiken, S., Razaqyar, M., Shelton, M., Chrismer, I., Grunseich, C., Mankodi, A., Bönnemann, C., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

195

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Sa, M., DiStefano, M., Mein, R., Phadke, R., Feng, L., Munot, P., Quinlivan, R., Manzur, A., Robb, S., Main, M., Sewry, C., Sarkozy, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

196

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Chrismer, I., Witherspoon, J., Drinkard, B., Stockman, M., Shelton, M., Kuo, A., Allen, C., Todd, J., Jain, M., Meilleur, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

197

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Lawal, T., Todd, J., Witherspoon, J., Bonnemann, C., Hamilton, S., Dowling, J., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

198

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Karachunski, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

199

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

García Erro, M., Cavassa, E., Muntadas, J., Pauni, M., Vázquez, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 91 KB

english, 2018

200

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Rugiero, M., Salutto, V., Alvarez, V., Bettini, M., Genco, N., Mazia, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

201

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

de Meel, R., Keene, K., Tannemaat, M., Verschuuren, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

202

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Vajsar, J., Katzberg, H., Qashqari, H., Chrestian, N., Narang, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

203

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Rugiero, M., Bettini, M., Silveira, F., Sosa Albacete, F., Christiansen, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 90 KB

english, 2018

204

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Ho, S., So, J., Bae, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

205

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

So, J., Ho, S., Bae, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

206

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Louet, E., Misdrahi, S., Bedos, C. Orblin, Birnbaum, S., Hogrel, JR., Portero, P., Clair, B., Eymard, B., Demeret, S., Bassez, G., Berrih-Aknin, S., Jobic, A., Aegerter, P., Thoumie, P., Sharshar, T.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

207

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Zhang, Y., Ban, R., Liu, H., Pu, C., Shi, Q.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

208

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Eymard, B., Sternberg, D., Mayer, M., Stojkovic, T., Fournier, E., Nicole, S., Behin, A., Laforêt, P., Servais, L., Bauché, S., Fontaine, B., Hantaï, D., Fardeau, M., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

209

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Shen, X., Selcen, D., Brengman, J., Shen, S., Durmus, H., Preethish-Kumar, V., Yuceyar, A., Vengalil, S., Nalini, A., Deymeer, F., Sine, S., Engel, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

210

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Estephan, E., Zambon, A., Marchiori, P., Silva, A., Moreno, C., Reed, U., Töpf, A., Lochmüller, H., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

211

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Coppens, S., Glibert, G., Deconinck, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

212

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Gidaro, T., Vandenbrande, L., Malfatti, E., Labasse, C., Carlier, P., Romero, N., Servais, L., Böhm, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

213

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Jonsrud, C., Aden, P., Hansen, G., Mork, M., Nygård, B., Popperud, T., Rasmussen, M., Songstad, N., Ørstavik, K., Fagerheim, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

214

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Rodriguez Cruz, P., Palace, J., Beeson, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

215

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Balaraju, S., Töpf, A., Veeramani, P., Vengalil, S., Polavarapu, K., Nashi, S., Kirschner, J., Horvath, R., Atchayaram, N., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

216

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Munell, F., Gomez-Andrés, D., Costa Comellas, L., Macaya, A., Gratacós, M., Dusl, M., Senderek, J., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

217

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Natera - de Benito, D., Frongia, A., Alarcón, M., Borras, A., Armas, J., Exposito, J., Carrera, L., Martorell, L., Moya, D., Padros, N., Roca, S., Vigo, M., Medina, J., Colomer, J., Ortez, C., Nascime

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 106 KB

english, 2018

218

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Chabanon, A., Annoussamy, M., Daron, A., Péréon, Y., Cances, C., Vuillerot, C., Goemans, N., Cuisset, J., Laugel, V., Schara, U., Gidaro, T., Seferian, A., Lowes, L., Carlier, P., Hogrel, JR., Czech,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

219

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Oliveira Santos, M., Falcão de Campos, C., Garrido, C., Conceição, I., Palavra, F., Negrão, L., Pedro Vieira, J., Mendonça, C., Coelho, T., Fineza, I., Santos, M., Moreno, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

220

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Milev, E., Selby, V., Reznik, J., Tillmann, R., Iodice, M., Scoto, M., Hogrel, JR., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

221

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Belter, L., Jarecki, J., Jones, C., Paradis, A., Jhaveri, M., Reyna, S., Hobby, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

222

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Saure, C., de Castro Perez, F., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

223

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Martínez-Jalile, M., Lozano-Arango, A., Diemer, C., Suárez, B., Alvarez, K., Castiglioni, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 94 KB

english, 2018

224

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

DiIorgi, N., Medone, E., Brigati, G., Notarnicola, S., Panicucci, C., Fiorillo, C., Pedemonte, M., Minetti, C., Maghnie, M., Bruno, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

225

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Monges, S., Mozzoni, J., Franchi, M., Medrano, S., Gravina, L., Aráoz, H., de Castro, F., Aguerre, V., Alías, L., Chertkoff, L., Tizzano, E., Bernal, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

226

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Polido, G., Miranda, M., Junior, N. Carvas, Caromano, F., Reed, U., Zanoteli, E., Voos, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

227

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Paternoster, L., Baijot, S., Deliens, G., Goemans, N., Servais, L., Deconinck, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 104 KB

english, 2018

228

DMD CLINICAL THERAPIES I

Wagner, K., Wong, B., Byrne, B., Sweeney, H., Jacobsen, L., Tirucherai, G., Rabbia, M., Dukart, J., Kletz, H., Krishnan, M., Bechtold, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

229

CMT AND NEUROGENIC DISEASE

Sanchez, P. Massaro, Savransky, A., Rugilo, C., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 104 KB

english, 2018

230

Table of location of abstract topics (“The Tomé Table”)

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 154 KB

english, 2018

231

LIMB-GIRDLE MUSCULAR DYSTROPHY I

James, M., Mayhew, A., Muni Lofra, R., Jacobs, M., Canal, A., Duong, T., Gee, R., Harman, M., Holsten, S., Lowes, L., Maron, E., Mendez, B., Pedrosa Belmonte, I., Sakamoto, C., Semplicini, C., Siener,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 108 KB

english, 2018

232

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Miller, N., Lowes, L., James, M., Alfano, L., Mayhew, A., Maron, E., Gee, R., Harman, M., Duong, T., Vandervelde, B., Siener, C., Thiele, S., Mendez, B., Canal, A., Sakamoto, C., Holsten, S., Pedrosa

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

233

LIMB-GIRDLE MUSCULAR DYSTROPHY I

James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

234

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Karachunski, P., Dalton, J., Paulson, R., Mitchell, K., Mugugunyeki, Z., Machaka, R., Pazorora, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

235

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Hedberg-Oldfors, C., Lindberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

236

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Malfatti, E., Lornage, X., Böhm, J., Brochier, G., Carlier, R., Laporte, J., Fardeau, M., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

237

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Witting, N., Solheim, T., Dahlqvist, J., Poulsen, N., Duno, M., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

238

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Gonzalez-Quereda, L., Pellisé, A., Vidal, N., Rodriguez, M., Gallano, P., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

239

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Selby, V., Ramdharry, G., Hanna, M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

240

CONGENITAL MYOPATHIES (CNM)

Gonorazky, H., Amburgey, K., Hawkins, C., Dowling, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

241

MITOCHONDRIAL DISEASES (Posters)

Arroyo, M., Wong, B., Fuller, C., Schorry, E., Ulm, E., Tian, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

242

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Escobar, R., Gejman, R., Jaque, C., Beytia, M., Avila, D., Casar, J., Trujillo, O., Fadic, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

243

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Tavares, P., Conte, G., Passos, S., Rezende, T., Souza, L., Rosa, T., Ciasca, S., Nucci, A., França Jr, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 90 KB

english, 2018

244

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Nagaraju, K., Vila, M., Novak, J., Boehler, J., Hogarth, M., Zhang, A., Kinder, T., Mazala, D., Benny Klimek, M., Fiorillo, A., van den Anker, J., Hathout, Y., Hoffman, E., Partridge, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

245

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Nelson, L., Alfano, L., Chen, D., Miller, N., Dugan, M., Rust, S., Lin, E., Lin, S., Wang-Price, S., Swank, C., Thompson, M., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

246

MITOCHONDRIAL DISEASES II (Oral)

Hirano, M., Lopez-Garcia, C., Rosales, X., Engelstad, K., Uddin, J., Dominguez, C., Paradas, C., Marti, R., Garone, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

247

NEW INSIGHTS INTO CELLULAR FUNCTIONS

Mayorga, L., Salassa, B., Garcia Samartino, C., Loos, M., Eiroa, H., Romano, P., Roque, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

248

NEW THERAPEUTIC APPROACHES

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

249

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Servais, L., Gasnier, E., Grelet, M., Gidaro, T., Seferian, A., Vissieres, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

250

METABOLIC MYOPATHIES II

Rico, S., Schoser, B., Dimmock, D., Lawlor, M., James, E., Morton, M., Prasad, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

251

FSHD / OPMD / EDMD / DMI

Bachasson, D., Mosso, J., Marty, B., Carlier, P., Hogrel, JY.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 89 KB

english, 2018

252

FSHD / OPMD / EDMD / DMI

Ishiyama, A., Kusabiraki, S., Inoue, M., Oya, Y., Miyahara, H., Takeshita, E., Motohashi, Y., Komaki, H., Sasaki, M., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 104 KB

english, 2018

253

SMA THERAPIES I

Castro, D., Farrar, M., Finkel, R., Tulinius, M., Krosschell, K., Saito, K., Zhang, Y., Bhan, I., Farwell, W., Reyna, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

254

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Zaidman, C., Kapur, K., Darras, B., Wong, B., Yang, M., Leitner, M., Pazze, L. Dalle, Buck, M., Freedman, L., Rutkove, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 93 KB

english, 2018

255

CMT AND NEUROGENIC DISEASE

Van den Bergh, P., Piéret, F., Woodard, J., Attarian, S., Grapperon, A., Nicolas, G., Brisset, M., Cassereau, J., Rajabally, Y., Van Parijs, V., Verougstraete, D., Jacquerye, P., Raymackers, J., Redan

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

256

CONGENITAL MYOPATHIES (CNM)

Lornage, X., Sabouraud, P., Lannes, B., Gaillard, D., Biancalana, V., Böhm, J., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

257

CONGENITAL MYOPATHIES (CNM)

Rosa, T., Domingues, J., Martins Jr, C., Domingos, J., Iwabe-Marchese, C., Pacheco, E., Queiroz, L., França Jr, M., Nucci, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

258

INFLAMMATORY MYOPATHIES

Luo, Y.B., Duan, H., Li, Q., Bi, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

259

INFLAMMATORY MYOPATHIES

Zhao, Y., Zhang, W., Wang, Z., Yuan, Y.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

260

INFLAMMATORY MYOPATHIES

Suárez, B., Lozano, A., Díaz, A., Ortega, X., Diaz, J., Calcagno, G., Hervias, C., Bevilacqua, J., Castiglioni, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 95 KB

english, 2018

261

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Iwabe-Marchese, C., Morini, N., Sanches, c., Rosa, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

262

SMA THERAPIES II AND BIOMARKERS

Kletzl, H., Czech, C., Cleary, Y., Sturm, S., Günther, A., Baranello, G., Mercuri, E., Servais, L., Day, J., Deconinck, N., Klein, A., Darras, B., Masson, R., Kirschner, J., Goemans, N., Pera, M., Chi

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 114 KB

english, 2018

263

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Chamova, T., Taneva, A., Gospodinova, M., Zlatareva, D., Johnson, K., Töpf, A., Straub, V., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

264

INFLAMMATORY MYOPATHIES

Blanc-Durand, P., Van Der Gucht, A., Guedj, E., Abulizi, M., Aoun Sebaiti, M., Itti, E., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

265

METABOLIC MYOPATHIES I

Yuan, Y., Yan, C., Zhao, C., Hu, J., Zhang, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

266

DMD TREATMENT: ANIMAL MODELS

Le Guiner, C., Moullier, P., McIntyre, M., Larcher, T., Adjali, O., LaFoux, A., Toumaniantz, G., Owens, J., Xiao, X., Binks, M., LaRosa, G., Samulski, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

267

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Dabbous, O., Cloutier, M., Guerin, A., Pivneva, I., Wu, E., Droege, M., Sproule, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 105 KB

english, 2018

268

CMT AND NEUROGENIC DISEASE

Öncel, I., Loic, Q., Haliloğlu, G., Melki, J., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

269

CONGENITAL MUSCULAR DYSTROPHIES

Munell, F., Gomez-Andres, D., Sanchez-Montañez, A., Comellas, L. Costa, Ferrer-Aparicio, S., Romero, P., Quijano-Roy, S., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

270

FSHD / OPMD / EDMD / DMI

Giesige, C., Wallace, L., Heller, K., Eidahl, J., Fowler, A., Pyne, N., Saad, N., Alkharsan, M., Rashnonejad, A., Chermahini, G., Domire, J., Mukweyi, D., Garwick-Coppens, S., Guckes, S., McLaughlin,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 58 KB

english, 2018

271

SMA THERAPIES I

Aragon-Gawinska, K., Seferian, A., Vanden Brande, L., Daron, A., Ulinici, A., Deconinck, N., Annoussamy, M., Vuillerot, C., Cances, C., Ropars, J., Chouchane, M., Balintova, Z., Modrzejewska, S., Cupp

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

272

MYOFIBRILLAR AND DISTAL MYOPATHIES

Miao, J., Liu, X., Su, F., Wei, X., Kang, Z., Gao, Y., Yu, X.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 91 KB

english, 2018

273

SMA THERAPIES I

Edel, L., Muntoni, F., Robinson, V., Grime, C., Abel, F., Manzur, A., Munot, P., Scoto, M., Chan, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

274

SMA THERAPIES II AND BIOMARKERS

Mercuri, E., Baranello, G., Kirschner, J., Servais, L., Goemans, N., Carmela Pera, M., Buchbjerg, J., Armstrong, G., Kletzl, H., Gerber, M., Czech, C., Cleary, Y., Gorni, K., Khwaja, O.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

275

SMA THERAPIES II AND BIOMARKERS

Chiriboga, C., Mercuri, E., Fischer, D., Kraus, D., Thompson, N., Armstrong, G., Kletzl, H., Gerber, M., Cleary, Y., Bergauer, T., Gorni, K., Khwaja, O.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 75 KB

english, 2018

276

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Peeters, L., Mahmood, M., Verros, S., Koopman, H., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 99 KB

english, 2018

277

MITOCHONDRIAL DISEASES (Posters)

Schlapakow, E., Peeva, V., Jeub, M., Wabbels, B., Zsurka, G., Kunz, W., Kornblum, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

278

MITOCHONDRIAL DISEASES II (Oral)

Bacman, S., Pereira, C., Zekonyte, U., Arguello, T., Williams, S., Stewart, J., Jantz, D., Moraes, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

279

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Poyatos, J., Gomis, C., Muelas, N., Marti, P., Vilchez, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

280

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Hogrel, J., Annoussamy, M., Chabanon, A., Daron, A., Péréon, Y., Cances, C., Vuillerot, C., Goemans, N., Cuisset, J., Laugel, V., Schara, U., Gargaun, E., Gidaro, T., Seferian, A., Turk, S., Hermosill

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

281

SMA THERAPIES I

Nelson, L., Valle, M., Forrest, D., Klingman, E., Ramm, T., Farrow-Gillespie, A., Spain, T., Castro, D., Iannaccone, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

282

NEW INSIGHTS INTO CELLULAR FUNCTIONS

Filipe, A., Varone, E., Arbogast, S., Chernorudskiy, A., Pozzer, D., Villar, R., Dill, C., Dudhal, S., Fumagalli, S., De Simoni, M., Giovarelli, M., De Palma, C., Pinton, P., Giorgi, C., Clementi, E.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

283

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Sampaio, H., Kariyawasam, D., Buckley, M., Mowat, D., Robinson, J., Taylor, P., Jones, K., Farrar, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

284

SMA THERAPIES II AND BIOMARKERS

Muntoni, F., Fuerst-Recktenwald, S., Bertini, E., Mercuri, E., Kirschner, J., Reid, C., Lusakowska, A., Comi, G., Cuisset, J., Ives, J., van der Pol, W., Vuillerot, C., Gorni, K., Fontoura, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

285

CMT AND NEUROGENIC DISEASE

Lee, J., Shin, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

286

MITOCHONDRIAL DISEASES (Posters)

Gayathri, N., Bindu, P., Govindaraj, P., Shwetha, C., Chetan, K., Deepha, S., Madhu, N., Taly, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

287

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

McAdam, L., Greenspoon, D., Bell, K., English, K., Keenan, S., McPherson, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

288

CMT AND NEUROGENIC DISEASE

Ekmekci, O., Argin, M., Karasoy, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 54 KB

english, 2018

289

CONGENITAL MYOPATHIES (CNM)

Buono, S., Koch, C., Robé, A., Kretz, C., Gomez Oca, R., Guo, S., Depla, M., Monia, B., Laporte, J., Thielemans, L., Cowling, B.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

290

CONGENITAL MYOPATHIES (CNM)

Tasfaout, H., Buono, S., Prokic, I., Ross, J., Kretz, C., Guo, S., Koebel, P., Monia, B., Bitoun, M., Ochala, J., Laporte, J., Cowling, B.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

291

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Calligaris, S., Guzmán, A., Savransky, A., Buompadre, C., Lubieniecki, F., Tesi Rocha, C., Tiziano, D., Fano, V., Tizzano, E., Gravina, P., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

292

INFLAMMATORY MYOPATHIES

Villanova, M., Ivanovic-Barbeito, Y., Romero, N., Nectoux, J., Mongini, T., Leturcq, F., Malfatti, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

293

DMD TREATMENT: ANIMAL MODELS

Lionarons, J., Hoogland, G., Hendriksen, R., Faber, C., Hellebrekers, D., Van Koeveringe, G., Schipper, S., Vles, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

294

SMA THERAPIES II AND BIOMARKERS

Deconinck, N., Born, A., Baranello, G., Bertini, E., Jullien de Pommerol, H., Mancilla, B. Gomez, Goemans, N., Pingili, R., Praestgaard, J., Roubenoff, R., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

295

DMD CLINICAL THERAPIES I

Ismail, H., Dorchies, O., Gayi, E., Neff, L., Scapozza, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

296

MITOCHONDRIAL DISEASES (Posters)

Topf, A., Oktay, Y., Balaraju, S., Yılmaz, E., Sönmezler, E., Yaramis, A., Güngör, S., Laurie, S., Beltran, S., Gut, I., Lochmüller, H., Hiz, S., Horvath, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 94 KB

english, 2018

297

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Schoser, B., Bratkovic, D., Byrne, B., Clemens, P., Geberhiwot, T., Goker-Alpan, O., Kishnani, P., Ming, X., Mozaffar, T., Schwenkreis, P., Sivakumar, K., van der Ploeg, A., Wright, J., Johnson, F., S

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

298

METABOLIC MYOPATHIES I

Echaniz-Laguna, A., Nadjar, Y., Béhin, A., Biancalana, V., Piraud, M., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

299

Corrigendum to “Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up” [Neuromuscular Disorders 28/4 (2018) 315–322]

Durmus, Hacer, Shen, Xin-Ming, Serdaroglu-Oflazer, Piraye, Kara, Bulent, Parman-Gulsen, Yesim, Ozdemir, Coskun, Brengman, Joan, Deymeer, Feza, Engel, Andrew G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 194 KB

english, 2018

300

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Schottlaender, L., Domingos, J., D'Argenzio, L., Zaharieva, I., Ala, P., Manzur, A., Bourke, J., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

301

SMA THERAPIES I

Tagiyev, A., Bulut, N., Aydin, G., Alemdaroğlu Gürbüz, I., Eroğlu, N., Yilmaz, O., Haliloğlu, G., Karaduman, A., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

302

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Lehtonen, J., Sofieva, S., Laitila, J., Wallgren-Pettersson, C., Grönholm, M., Pelin, K., Lehtokari, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

303

NEW THERAPEUTIC APPROACHES

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

304

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Morales, R. Juntas, Cances, C., Cintas, P., Renard, D., Sole, G., Espil, C., Rivier, F., Louvier, U. Walther, Uro-Coste, E., Perrin, A., Leboucq, N., Rigau, V., Arne-Bes, M., Duval, F., Acket, B., Pey

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

305

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Belter, L., Jones, C., Paradis, A., Jhaveri, M., Reyna, S., Hobby, K., Jarecki, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

306

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Dabbous, O., Seda, J., Droege, M., Sproule, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

307

INFLAMMATORY MYOPATHIES

Goyal, N., Wencel, M., Araujo, N., Medina, E., Zhang, L., Nguyen, D., Mozaffar, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 94 KB

english, 2018

308

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Gicquel, E., Brown, S.C., Richard, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

309

MITOCHONDRIAL DISEASES (Posters)

Loos, M., Aráoz, H., Lubieniecki, F., Taratuto, A., Caraballo, R., Chertkoff, L., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

310

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Kuntz, N., Shieh, P., Smith, B., Bönnemann, C., Dowling, J., Lawlor, M., Müller-Felber, W., Noursalehi, M., Rico, S., Servais, L., Prasad, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 72 KB

english, 2018

311

Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many?

Pipis, M., Rossor, A.M., Polke, J., Cortese, A., Reilly, M.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 17 KB

english, 2018

312

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Pitchforth, J., Domingos, J., Iodice, M., Mayhew, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

313

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Bulut, N., Aydin, G., Gürbüz, i. Alemdaroglu, Karaduman, A., Topaloğlu, H., Yilmaz, O.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

314

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Okubo, M., Noguchi, S., Hayashi, S., Matsuo, M., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 35 KB

english, 2018

315

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Hayashi, S., Oishi, Y., Manabe, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

316

NEW INSIGHTS INTO CELLULAR FUNCTIONS

Gall, I. Le, Lucas, O., Roquevière, S., Mariot, V., Dumonceaux, J., Ouandaogo, G., TRANE study, G., Ratti, F., Mejat, A., Durieux, A., Gonzales De Aguilar, J., Martinat, C., Knoblach, S., Raoul, C., D

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

317

NEW INSIGHTS INTO CELLULAR FUNCTIONS

Nelson, D., Lindsay, A., Lowe, D., Ervasti, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

318

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Garibaldi, M., Fattori, F., Bortolotti, C., Brochier, G., Labasse, C., Verardo, M., Bertini, E., Pennisi, E., Paradas, C., Romero, N., Antonini, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

319

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Peeters, L., Kingma, I., van Dieën, J., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

320

SMA THERAPIES I

Mendonça, R., Silva, A., Velasco, O., Cardeal, D., Conti-reed, U., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

321

SMA THERAPIES I

Day, J., Wolford, C., Macpherson, C., Hagerman, K., Paulose, S., Zeineh, M., Martens, W., McDermott, M., Darras, B., De Vivo, D., Zolkipli Cunningham, Z., Finkel, R., Sampson, J., Duong, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

322

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Alfano, L., Miller, N., Iammarino, M., Berry, K., Moore-Clingenpeel, M., Dugan, M., Al-Zaidy, S., Tsao, C., Rodino-Klapac, L., Waldrop, M., Flanigan, K., Mendell, J., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

323

MYOFIBRILLAR AND DISTAL MYOPATHIES

Cabet, E., Delacour, D., Hakibilen, C., Delort, F., Pichon, S., Vicart, P., Ferreiro, A., Lilienbaum, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

324

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Marty, B., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 92 KB

english, 2018

325

METABOLIC MYOPATHIES I

Silva, A., Mendonça, R., Soares, D., Callegaro, D., Caldas, V., Carvalho, M., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

326

MYOFIBRILLAR AND DISTAL MYOPATHIES

Miao, J., Wei, X., Kang, Z., Gao, Y., Yu, X.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

327

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Laitila, J., McNamara, E., Goullee, H., Wingate, C., Lawlor, M., Ross, J., Ochala, J., Griffiths, L., Ravenscroft, G., Sewry, C., Laing, N., Wallgren-Pettersson, C., Pelin, K., Nowak, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

328

SMA THERAPIES I

Gomez Garcia de la Banda, M., Doré, B., Bénézit, A., Dabaj, I., Mbieleu, B., Pruvost, S., Felter, A., Thiry, T., Tirolien, S., Dupont, P., Bocassin, C., Essid, A., Durigneux, L., Cances, C., Servais,

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 61 KB

2018

329

SMA THERAPIES I

Vazquez, G., Cavassa, E., Pinto, M., Jaimovich, S., Schteinschnaider, A., Dallesandro, F., Duhalde, S., Aguerre, V., Routaboul, C.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 67 KB

2018

330

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Gonorazky, H., Naumenko, S., Kao, D., Mashouri, P., Ramani, A., Mathews, K., Tarnopolsky, M., Moore, S., Brudno, M., Dowling, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

331

INFLAMMATORY MYOPATHIES

Alonso-Jimenez, A., Suárez-Calvet, X., Castellví, I., Gallardo, E., Diaz-Manera, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

332

METABOLIC MYOPATHIES II

Kölbel, H., Marina, A. Della, Kaiser, O., Stehling, F., Weis, J., Abicht, A., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

333

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Gaume, M., Sauvagnac, R., Quijano-Roy, S., Azzi-Sallameh, V., Dabaj, I., Bénézit, A., Mbieleu, B., Verollet, D., Essid, A., Haegy, I., Bergounioux, J., Desguerre, I., Miladi, L., Glorion, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 100 KB

english, 2018

334

INFLAMMATORY MYOPATHIES

Inoue, M., Uruha, A., Charuel, J., Musset, L., Suzuki, S., Kuwana, M., Mimori, T., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

335

CMT AND NEUROGENIC DISEASE

Cao, S., Parelkar, S., Ko, H., Thompson, P., Hayward, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

336

METABOLIC MYOPATHIES I

Gayathri, N., Debashree, B., Kumar, K. Manish, Prasad, T. Keshava, Archana, N., Rita, C., Nalini, A., Bindu, P., Bharath, M. Srinivas

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

337

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Selvativci, R., Trabanelli, C., Neri, S., Rossi, R., Fini, S., Rimessi, P., Venturoli, A., Neri, M., Gualandi, F., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 67 KB

2018

338

FSHD / OPMD / EDMD / DMI

Strings-Ufombah, V., Malerba, A., Harbaran, S., Roth, F., Cappellari, O., Nguyen, N., Kao, S., Takahashi, K., Kloth, C., Roelvink, P., Dickson, G., Trollet, C., Suhy, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

339

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Muntoni, F., Layton, G., Bhattacharya, I., Vandenborne, K., Faelan, C., Heatherington, A., Roblin, D., Tinsley, J., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 75 KB

english, 2018

340

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Hunter, M., Hatzipolakis, A., Heatwole, C., Wicklund, M., Statland, J., Weihl, C., Johnson, N.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

341

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Selby, V., Ricotti, V., Mayhew, A., Ridout, D., Pitchforth, J., Niks, E., Servais, L., de Groot, I., Straub, V., Mercuri, E., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

342

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Miller, N., Alfano, L., Iammarino, M., Dugan, M., Moore-Clingenpeel, M., Al-Zaidy, S., Tsao, C., Waldrop, M., Flanigan, K., Mendell, J., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

343

MITOCHONDRIAL DISEASES I (Oral)

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 89 KB

english, 2018

344

DMD CLINICAL THERAPIES II

Geuens, S., Willen, J., Antonis, C., Goemans, N., De Waele, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

345

DMD CLINICAL THERAPIES I

Nakayama, T., Kuru, S., Komaki, H., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 96 KB

2018

346

CONGENITAL MYOPATHIES (CNM)

Kumutpongpanich, T., Hayashi, S., Iida, A., Okubo, M., Matsuo, M., Noguchi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 70 KB

2018

347

DMD CLINICAL THERAPIES I

McDonald, C., Wei, L., Jin, F., Elfring, G., Trifillis, P., Souza, M., McIntosh, J., Peltz, S., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

348

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Arora, H., Willcocks, R., Forbes, S., Triplett, W., Rooney, W., Wang, D., Daniels, M., Finanger, E., Tennekoon, G., Brandsema, J., Sweeney, H., Walter, G., Vandenborne, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

349

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Dangouloff, T., Hiligsmann, M., Caberg, J., Boemer, F., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

350

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Sagath, L., Lehtokari, V., Wallgren-Pettersson, C., Pelin, K., Kiiski, K.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 99 KB

2018

351

DMD CLINICAL THERAPIES I

Nakayama, T., Kuru, S., Komaki, H., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

352

CONGENITAL MYOPATHIES (CNM)

Kumutpongpanich, T., Hayashi, S., Iida, A., Okubo, M., Matsuo, M., Noguchi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

353

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Sagath, L., Lehtokari, V., Wallgren-Pettersson, C., Pelin, K., Kiiski, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 99 KB

english, 2018

354

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Goemans, N., Wong, B., Signorovitch, J., Sajeev, G., Jenkins, M., Dieye, I., Yao, Z., Hossain, I., Ward, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 99 KB

english, 2018

355

CMT AND NEUROGENIC DISEASE

Al-dahhak, R., Conway, J., Bostan-Shirin, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 54 KB

english, 2018

356

SMA THERAPIES II AND BIOMARKERS

Crawford, T., Sumner, C., Finkel, R., De Vivo, D., Oskoui, M., Tizzano, E., Zhao, G., Petrillo, M., Stebbins, C., Farwell, W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 101 KB

english, 2018

357

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Duong, T., Gordish-Dressman, H., Pavlvolgyi, M., Fensterwald, M., McDonald, C., Henricson, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

358

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

El-Khoury, R., Sawaya, R., Lamaa, M., Ahdab-Barmada, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

359

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Kennedy, A., Valdez, R., Westfield, C., Bolen, J., Kinnett, K., Perez, D., Furlong, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

360

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Mullen, A., Uaesoontrachoon, K., Srinivassane, S., Moraca, M., Ross, W., MacKinnon, A., Bell, C., Gillis, E., Rowsell, J., Malbasic, M., Barkhouse, M., Warford, J., Shala, D., Hoffman, E., Nagaraju, K

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

361

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Lilien, C., Grelet, M., Gasnier, E., Gidaro, T., Seferian, A., Rigaud, A., Vissière, D., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

362

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Ricotti, V., Haar, S., Selby, V., Voit, T., Faisal, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

363

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Nelson, I., De Ridder, W., Asselbergh, B., De Paepe, B., Beuvin, M., Ben Yaou, R., Boland, A., Deleuze, J., Maisonobe, T., Eymard, B., De Bleecker, J., Symoens, S., Schindler, R., Brand, T., Töpf, A.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

364

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Andrade, R., Lima, L., Melo, M., Miranda, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

365

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Liang, W., Wang, C., Tian, X., Chen, W., Kan, T., Nishino, I., Wong, L., Jong, Y.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 95 KB

2018

366

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Angelini, C., Marozzo, R., Pegoraro, V.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 62 KB

2018

367

SMA THERAPIES I

Apkon, S., Weaver, J., Natarajan, N., Shaw, D., Koo, K., Shivaram, G., Monroe, E.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 61 KB

2018

368

SMA THERAPIES I

Shell, R., Al-Zaidy, S., Arnold, W., Rodino-Klapac, L., Prior, T., Kotha, K., Paul, G., Lowes, L., Alfano, L., Berry, K., Church, K., Kissel, J., Nagendran, S., Ogrinc, F., Sproule, D., Wells, C., Mey

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 71 KB

2018

369

MITOCHONDRIAL DISEASES (Posters)

Bertini, E., Verrigni, D., Battaglia, D., Torraco, A., Figa Talamanca, L., Carrozzo, R., Diodato, D., D'Amico, A., Papetti, L., Ghezzi, D., Ardissone, A., Lamperti, C., Legati, A., Goffrini, P.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 65 KB

2018

370

NEW INSIGHTS INTO CELLULAR FUNCTIONS

Gimpel, P., Roman, W., Lee, Y., Burke, B., Gomes, E., Cadot, B.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 98 KB

2018

371

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Kemaladewi, D., Bassi, P., Lindsay, K., Erwood, S., Hyatt, E., Place, K., Marks, R., Gawlik, K., Durbeej, M., Ivakine, E., Cohn, R.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 63 KB

2018

372

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

D'Amico, A., Fattori, F., Fiorillo, C., Verardo, M., Catteruccia, M., Bellacchio, E., Moggio, M., Bruno, C., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 65 KB

2018

373

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Konersman, C., Aykanat, A., Troiano, E., Beggs, A.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 64 KB

2018

374

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Steel, D., Sarkozy, A., Mein, R., Phadke, R., Sewry, C., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 64 KB

2018

375

METABOLIC MYOPATHIES I

Gitiaux, C., Gobin-Limballe, S., Desguerre, I., Barnerias, C., De Lonlay, P., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 66 KB

2018

376

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Bleyenheuft, C., Goemans, N., Wanyama, S., Van Damme, P., De Bleecker, J., Van Coster, R., De Jonghe, P., Beysen, D., Van den Bergh, P., Paquay, S., Servais, L., Maertens de Noordhout, A., Haan, J., D

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 73 KB

2018

377

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Sa, M., Biancheri, R., McCrea, N., Phadke, R., Pitt, M., Manzur, A., Munot, P.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 60 KB

2018

378

METABOLIC MYOPATHIES II

Santos, M. Oliveira, Conceição, I.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 68 KB

2018

379

METABOLIC MYOPATHIES II

Lun, Y., Xu, S., Soska, R., Nair, A., Frascella, M., Garcia, A., Ponery, A., Feng, J., Valle, C. Della, Gotschall, R., Do, H., Valenzano, K., Khanna, R.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 65 KB

2018

380

METABOLIC MYOPATHIES II

Corderí, J., Chloca, F., Jáuregui, A., Flores, D., Dubrovsky, A.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 97 KB

2018

381

FSHD / OPMD / EDMD / DMI

Dahlqvist, J., Poulsen, N., Oestergaard, S., Fornander, F., Eisum, A., Thomsen, C., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 60 KB

2018

382

FSHD / OPMD / EDMD / DMI

Park, J., Hwang, S., Chang, Y., Song, H.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 64 KB

2018

383

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Luo, S., Xue, M., Sun, J., Qiao, K., Song, J., Cai, s., Zhu, W., Zhou, L., Xi, J., Lu, J., Ni, X., Dou, T., Zhao, C.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 67 KB

2018

384

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Blondelle, J., Tallapaka, K., Shapiro, P., Ghassemian, M., Singer, J., Lange, S.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 96 KB

2018

385

DMD CLINICAL THERAPIES I

Ortez, C., Medina, J., Vigo, M., Moya, O., Padros, N., Natera De Benito, D., Carrera, L., Colomer, J., Zschaeck, I., Jimenez-Mallebrera, C., Solé, L., Cubells, M., Jou, C., Nascimento, A.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 70 KB

2018

386

CONGENITAL MYOPATHIES (CNM)

Bullivant, J., Murphy, L., Napier, K., Render, L., Hunter, A., Spring, M., Lennox, A., Lochmuller, H., Bellgard, M., Marini-Bettolo, C.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 66 KB

2018

387

INFLAMMATORY MYOPATHIES

Weihl, C., Ciryam, P., Guttsches, A., Marcus, K., Morimoto, R., Vendruscolo, M., Kley, R.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 60 KB

2018

388

SMA THERAPIES I

Mendell, J., Al-Zaidy, S., Shell, R., Arnold, W., Rodino-Klapac, L., Prior, T., Lowes, L., Alfano, L., Berry, K., Church, K., Kissel, J., Nagendran, S., Italien, J.L., Sproule, D., Wells, C., Burghes,

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 68 KB

2018

389

DMD TREATMENT: ANIMAL MODELS

Egorova, T., Reshetov, D., Polikarpova, A., Vassilieva, S., Vlodavets, D., Deikin, A.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 60 KB

2018

390

DMD TREATMENT: ANIMAL MODELS

Rogers, R., Fournier, M., Sanchez, L., Aminzadeh, M., Marban, E.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 96 KB

2018

391

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Mah, M., Cripe, L., Al-Zaidy, S., Camino, E., Slawinski, M., Jackson, J., Mendell, J., Hor, K.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 97 KB

2018

392

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Namgung, D., Lee, J., Kim, W., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 64 KB

2018

393

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Neuhaus, S., Donkervoort, S., Leach, M., Iannaconne, S., Konersman, C., Saade, D., Foley, A.R., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 67 KB

2018

394

METABOLIC MYOPATHIES II

Wenninger, S., Greckl, E., Babacic, H., Schoser, B.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 62 KB

2018

395

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Ribeiro, A., Ishiba, R., Alcântara Fernandes, S., Freitas Almeida, C., Ayub Gerrieri, D., Fernandes dos Santos, A., Santos E. Souza, L., Souza, E., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 60 KB

2018

396

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Nelson, I., De Ridder, W., Asselbergh, B., De Paepe, B., Beuvin, M., Ben Yaou, R., Boland, A., Deleuze, J., Maisonobe, T., Eymard, B., De Bleecker, J., Symoens, S., Schindler, R., Brand, T., Töpf, A.,

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 98 KB

2018

397

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Andrade, R., Lima, L., Melo, M., Miranda, A.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 59 KB

2018

398

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Zapata-Aldana, E., Campbell, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

399

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Alfano, L., Miller, N., Iammarino, M., Moore-Clingenpeel, M., Lowes, S., Dugan, M., Waldrop, M., Flanigan, K., Noritz, G., Tsao, C., Al Zaidy, S., Kissel, J., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

400

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Deguise, M., Beauvais, A., Tiernay, A., Paul, B., McFall, E., De Repentigny, Y., Kothary, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

401

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Dahlqvist, J., Oestergaard, S., Poulsen, N., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

402

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Da, Y.W., Sun, Y.N., Chen, H., lu, Y., Di, L., Wen, X.M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

403

INFLAMMATORY MYOPATHIES

Mozaffar, T., Coulis, G., Kastenschmidt, J., Wencel, M., Villalta, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

404

INFLAMMATORY MYOPATHIES

Shin, J., Lee, A., Choi, S., Hong, Y., Sung, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

405

INFLAMMATORY MYOPATHIES

Silva, A., Vianna, M., Esteves, H., Comello, F., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 94 KB

english, 2018

406

SMA THERAPIES I

Lowes, L., Alfano, L., Iammarino, M., Miller, N., Menier, M., Cardenas, J., Sproule, D., Nagendran, S., Al-Zaidy, S., Mendell, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

407

SMA THERAPIES I

Alfano, L., Lowes, L., Al-Zaidy, S., Shell, R., Arnold, W., Rodino-Klapac, L., Prior, T., Berry, K., Church, K., Kissel, J., Nagendran, S., Italien, J.L., Sproule, D., Wells, C., Burghes, A., Foust, K

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

408

MITOCHONDRIAL DISEASES (Posters)

Zhao, Y., Yan, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

409

MITOCHONDRIAL DISEASES (Posters)

Wang, Z., Zhao, X., Liu, J., Zhang, W., Yuan, Y.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

410

NEW INSIGHTS INTO CELLULAR FUNCTIONS

Brady, S., Wang, E., Carver, J., Hofer, M., Hilton, D., Hilton-Jones, D., Poulton, J., Fratter, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

411

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Saade, D., Bharucha-Goebel, D., Jain, M., Waite, M., Norato, G., Cheung, K., Foley, A.R., Soldatos, A., Rybin, D., Lehky, T., Ying, H., Whitehead, M., Calcedo Del Hoyo, R., Jacobson, S., Leibovitch, E

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 110 KB

english, 2018

412

MYOFIBRILLAR AND DISTAL MYOPATHIES

Chen, Y., Xi, J., Zhu, W., Lin, J., Luo, S., Yue, D., Cai, S., Sun, C., Zhao, C., Mitsuhashi, S., Nishino, I., Xu, M., Lu, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

413

MYOFIBRILLAR AND DISTAL MYOPATHIES

Shin, J., Park, Y., Lee, J., Kim, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

414

MYOFIBRILLAR AND DISTAL MYOPATHIES

Luo, Y., Li, Q., Duan, H., Bi, F., Yang, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

415

SMA THERAPIES II AND BIOMARKERS

Bertini, E., Day, J., Al Muhaizea, M., Xiong, H., Servais, L., Prufer, A., Buchbjerg, J., Armstrong, G., Gorni, K., Khwaja, O.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 113 KB

english, 2018

416

SMA THERAPIES II AND BIOMARKERS

Jullien de Pommerol, H., Kieloch, A., Leppert, D., Peters, T., Theil, D., Valentin, M., Voltz, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

417

METABOLIC MYOPATHIES I

Sampaio, H., Farrar, M., Al Safar, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

418

METABOLIC MYOPATHIES I

Angelini, C., Marozzo, R., Pegoraro, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

419

METABOLIC MYOPATHIES I

Pehl, D., von Renesse, A., Harms, L., Goebel, H., Schuelke, M., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

420

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Amburgey, K., Gonorazky, H., Dowling, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 90 KB

english, 2018

421

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Pedrosa, A., Van der Linden, V., Iwabe-Marchese, C., Voos, M., Zanoteli, E., Teixeira, J., Araújo, E., Reed, U.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

422

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Zacher, S., van Egmond-Fröhlich, A., Weiss, S., Guenther, B.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

423

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Kurashige, T., Kanbara, T., Sumi, N., Tasaka, S., Sugiura, T., Maruyama, H., Torii, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

424

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Erro, M. Garcia, Cavassa, E., Muntadas, J., Pauni, M., Vazquez, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

425

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Escolar, D., Hermreck, M., Semus, H., Hood, D., Jackson, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

426

METABOLIC MYOPATHIES II

Heffner, G., James, L., Chaivorapol, C., Mei, M., Stinchcombe, T., Ton, J., Schoser, B., Meng, H., Lawlor, M., Prasad, S., Gray, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

427

METABOLIC MYOPATHIES II

Hogrel, JR., Chéraud, C., Ledoux, I., Ollivier, G., Yaou, R. Ben, Leturcq, F., Behin, A., Stojkovic, T., Eymard, B., Laforet, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

428

FSHD / OPMD / EDMD / DMI

Drivsholm, P., Busk, L., Nybro, T., Werlauff, U.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

429

FSHD / OPMD / EDMD / DMI

Saad, N., Al-Kharsan, M., Garwick-Coppens, S., Pyne, N., Harper, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

430

FSHD / OPMD / EDMD / DMI

Statland, J., Bravver, E., Karam, C., Elman, L., Johnson, N., Joyce, N., Kissel, J., Shieh, P., Korngut, L., Weihl, C., Tawil, R., Amato, A., Campbell, C., Genge, A., Manousakis, G., Leneus, A., Mille

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

431

FSHD / OPMD / EDMD / DMI

De Antonio, M., Dogan, C., Hamroun, D., Geille, A., Eymard, B., Bassez, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

432

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Donkervoort, S., Foley, A.R., Saade, D., Neuhaus, S., Mohassel, P., Bharucha-Goebel, D., Chao, K., Cummings, B., Lek, M., MacArthur, D., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

433

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Lee, J., Shin, H., Lee, S., Choi, J., Kim, S., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

434

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Savarese, M., Jonson, P., Huovinen, S., Paulin, L., Auvinen, P., Udd, B., Hackman, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

435

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Kabeya, Y., Takeuchi, Y., Nakano, H., Okubo, M., Inoue, M., Tokumasu, R., Ozawa, I., Takano, A., Iwamori, T., Yonezawa, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

436

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Ellis, M., Sardone, V., Torelli, S., Saeed, S., Sigurta, A., Hill, N., Scaglioni, D., Feng, L., Sewry, C., Singer, M., Muntoni, F., Phadke, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 74 KB

english, 2018

437

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Moreno, C., Estephan, E., Abath Neto, O., Camelo, C., Silva, A., Reed, U., Bönnemann, C., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

438

CMT AND NEUROGENIC DISEASE

Estephan, E., Sampaio, P., Souza, F., Rocha, M., Zanoteli, E., Marques, W.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

439

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Foncuberta, M., Lubieniecki, F., Gravina, L., González Quereda, L., Gallano, P., Chertkoff, L., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 98 KB

2018

440

DMD CLINICAL THERAPIES I

Due, B., Becker, P., Crawford, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

441

DMD CLINICAL THERAPIES II

Mata Lopez, S., Balog, C., Vitha, S., Bettis, M., Barnett, H., Kornegay, J., Nghiem, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

442

DMD CLINICAL THERAPIES II

Flanigan, K., Chicoine, L., Cheatham, J., Cheatham, S., Simmons, T., Lowes, L., Iammarino, M., Miller, N., Alfano, L., Rinaldi, F., Waldrop, M., Zygmunt, D., Xu, R., Martin, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

443

DMD TREATMENT: ANIMAL MODELS

Goddard, M., Drayton, B., Piétri-Rouxel, F., Relaix, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

444

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Passos, S., Tavares, P., Rezende, T., Souza, L., Rosa, T., Iwabe-Marchese, C., Nucci, A., França, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

445

Author Index

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 312 KB

2018

446

DMD CLINICAL THERAPIES II

Khan, N., Han, L., Kinane, B., Gordish-Dressman, H., Lowes, L., McDonald, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

447

DMD TREATMENT: ANIMAL MODELS

Forbes, S., Batra, A., Baligand, C., Vandenborne, K., Walter, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

448

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

de Winter, J., Molenaar, J., van Willigenburg, M., Conijn, S., Lassche, S., Irving, T., Campbell, K., Van Engelen, B., Voermans, N., Ottenheijm, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

449

Update in NMD Announcement

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 151 KB

2018

450

Title

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 154 KB

2018

451

DMD CLINICAL THERAPIES II

Khan, N., Han, L., Kinane, B., Gordish-Dressman, H., Lowes, L., McDonald, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

452

DMD CLINICAL THERAPIES II

Tinsley, J., Muntoni, F., Layton, G., Faelan, C., Patterson-Kane, J., Hetherington, A., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

453

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Malfatti, E., Avila-Polo, R., Lornage, X., Nelson, I., Nectoux, J., Bohm, J., Hedberg-Oldfors, C., Eymard, B., Monges, S., Lubieniecki, F., Brochier, G., Madelaine, A., Labasse, C., Taratuto, A., Udd,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 107 KB

english, 2018

454

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

González-Quereda, L., Fuentealba, M., Díaz, J., Trangulao, A., Gallano, P., Bevilacqua, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

455

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Phadke, R., Herron, B., Hurrell, D., Craig, S., Kelly, B., Sarkozy, A., Sewry, C., Muntoni, F., McConnell, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

456

CONGENITAL MYOPATHIES (CNM)

Souza, L., Almeida, C., Silva, L., Pavanello, R., Gurgel-Gianneti, J., Zanoteli, E., Zatz, M., Otto, P., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 106 KB

english, 2018

457

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Siebers, E., Tinklenberg, J., Meng, H., Ayres, S., Vanden Avond, M., Slick, R., Nowake, K., Granzier, H., Hardeman, E., Montanaro, F., Lawlor, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 104 KB

english, 2018

458

CONGENITAL MUSCULAR DYSTROPHIES

Silwal, A., Scoto, M., Ridout, D., Schmidt, A., Laverty, A., Henriques, M., D'Argenzio, L., Main, M., Mein, R., Sarkozy, A., Manzur, A., Al-Ghamdi, F., Genetti, C., Abel, F., Haliloglu, G., Ardicli, D

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

459

DMD TREATMENT: ANIMAL MODELS

Lionarons, J., Slegers, R., Hendriksen, J., Faber, C., Hoogland, G., Vles, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

460

CONGENITAL MUSCULAR DYSTROPHIES

Natera-de Benito, D., Foley, A.R., Diaz-Manera, J., Fink, M., Mebrahtu, A., Minal, J., Donkervoort, S., Hu, Y., Cuadras, D., Carrera-Garcia, L., Alarcón, M., Milisenda, J., Dominguez, R., Olive, M., J

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

461

DMD TREATMENT: ANIMAL MODELS

Eilers, W., Foster, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

462

CONGENITAL MUSCULAR DYSTROPHIES

Arahata, Y., Ishiyama, A., Ogawa, M., Noguchi, S., Tanaka, R., Takeshita, E., Shimizu-Motohashi, Y., Komaki, H., Saito, Y., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

463

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Artilheiro, M., Oliveira, E., Carvas, N., Favero, F., Caromano, F., Sá, C., Voos, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

464

CMT AND NEUROGENIC DISEASE

Goyal, N., Wencel, M., Araujo, N., Medina, E., Nguyen, D., Zhang, L., Mozaffar, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

465

DMD CLINICAL THERAPIES I

Nagaraju, K., Clemens, P., Damsker, J., McCall, J., Mengle-Gaw, L., Conklin, L., Smith, E., Castro, D., Mah, J., McDonald, C., Kuntz, N., Finkel, R., Guglieri, M., Tulinius, M., Nevo, Y., Ryan, M., We

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 107 KB

english, 2018

466

DMD CLINICAL THERAPIES I

Finkel, R., McDonald, C., Sweeney, H., Mancini, M., MacDougall, J., Donovan, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

467

DMD CLINICAL THERAPIES I

Schmidt, S., Hafner, P., Orsini, A., Rubino-Nacht, D., Dorchies, O., Nascimiento Osorio, A., Schara, U., Spinty, S., Topaloğlu, H., Fischer, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

468

DMD CLINICAL THERAPIES II

Komaki, H., Takeshima, Y., Matsumura, T., Ozasa, S., Funato, M., Egawa, Y., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

469

CONGENITAL MYOPATHIES (CNM)

Shieh, P., Müller-Felber, W., Smith, B., Bönnemann, C., Dowling, J., Kuntz, N., Muntoni, F., Servais, L., Bilder, D., Duong, T., Graham, R., Jain, M., Lawlor, M., MacBean, V., Noursalehi, M., Pitts, T

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

470

CONGENITAL MYOPATHIES (CNM)

Annoussamy, M., Lilien, C., Gidaro, T., Chê, V., Schara, U., D'Amico, A., Dowling, J., Darras, B., Daron, A., Mayer, M., Hernandez, A., Vuillerot, C., Fontaine, S., deLattre, C., Bellance, R., Biancal

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 72 KB

english, 2018

471

DMD TREATMENT: ANIMAL MODELS

Egorova, T., Vlodavets, D., Starikova, A., Polikarpova, A., Smidt, A., Trushkin, N., Luckina, E., Vassilieva, S., Usachev, E., Deikin, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

472

DMD TREATMENT: ANIMAL MODELS

Dilda, P., Serova, M., On, S., Didry-Barca, B., Latil, M., Veillet, S., Lafont, R.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

473

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Al Zaidy, S., Camino, E., Miller, N., Lehman, K., Lowes, L., Alfano, L., Iammarino, M., Alexander, J., Cripe, L., Hor, K., Mah, M., Mendell, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

474

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Ille, A., Schmidt, W.M., Gosk-Tomek, M., Weiss, S., Freilinger, M., Bittner, R.E., Bernert, G.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

475

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Martins, J., Oliveira, J., Taipa, R., Garrido, C., Melo Pires, M., Santos, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 61 KB

english, 2018

476

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Wang, Z., Hu, Z., Zhang, W., lv, H., Yu, M., Yuan, Y.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

477

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Neuhaus, S., Hayes, L., Saade, D., Donkervoort, S., Mohassel, P., Dastgir, J., Bharucha-Goebel, D., Leach, M., Vuillerot, C., Iannaccone, S., Grosmann, C., Beggs, A., Foley, A., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

478

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Duong, T., Bello, L., Henricson, E., Hoffman, E., McDonald, C., Gordish-Dressman, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

479

CONGENITAL MUSCULAR DYSTROPHIES

Noguchi, S., Ogawa, M., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 67 KB

english, 2018

480

CONGENITAL MUSCULAR DYSTROPHIES

Jain, M., Meilleur, K., Norato, G., Waite, M., Leach, M., Donkervoort, S., Foley, A., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

481

CONGENITAL MUSCULAR DYSTROPHIES

Bugiardini, E., Phadke, R., Maas, R., Pittman, A., Kusters, B., Morrow, J., Parton, M., Nunes, A., Akhtar, M., Syrris, P., Lopes, L., Fotelonga, T., Houlden, H., Elliott, P., Hanna, M., Raaphorst, J.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

482

CMT AND NEUROGENIC DISEASE

Saade, D., Bharucha-Goebel, D., Norato, G., Foley, A.R., Waite, M., Jain, M., Debs, S., Vasavada, R., Nichols, C., Kaur, R., Donkervoort, S., Neuhaus, S., Hu, Y., Lehky, T., Gray, S., Fink, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

483

CMT AND NEUROGENIC DISEASE

Shy, M., Herrmann, D., Thomas, F., Quinn, C., Statland, J., Walk, D., Johnson, N., Subramony, S., Karam, C., Mozaffar, T., D'Eon, S., Miller, B., Glasser, C., Sherman, M., Attie, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 99 KB

english, 2018

484

Gene delivery translation: lessons learned

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 27 KB

english, 2018

485

DMD TREATMENT: ANIMAL MODELS

Eilers, W., Gadd, A., Foster, H., Foster, K.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

486

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Solheim, T., Fornander, F., Møgelvang, R., Poulsen, N., Andersen, A., Eisum, A., Duno, M., Bundgaard, H., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

487

DMD TREATMENT: ANIMAL MODELS

Lionarons, J., Slegers, R., Hendriksen, J., Faber, C., Hoogland, G., Vles, J.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 60 KB

2018

488

CONGENITAL MUSCULAR DYSTROPHIES

Natera-de Benito, D., Foley, A.R., Diaz-Manera, J., Fink, M., Mebrahtu, A., Minal, J., Donkervoort, S., Hu, Y., Cuadras, D., Carrera-Garcia, L., Alarcón, M., Milisenda, J., Dominguez, R., Olive, M., J

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 65 KB

2018

489

DMD TREATMENT: ANIMAL MODELS

Eilers, W., Foster, K.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 68 KB

2018

490

CONGENITAL MUSCULAR DYSTROPHIES

Arahata, Y., Ishiyama, A., Ogawa, M., Noguchi, S., Tanaka, R., Takeshita, E., Shimizu-Motohashi, Y., Komaki, H., Saito, Y., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 67 KB

2018

491

DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Artilheiro, M., Oliveira, E., Carvas, N., Favero, F., Caromano, F., Sá, C., Voos, M.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 59 KB

2018

492

CMT AND NEUROGENIC DISEASE

Goyal, N., Wencel, M., Araujo, N., Medina, E., Nguyen, D., Zhang, L., Mozaffar, T.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 68 KB

2018

493

CMT AND NEUROGENIC DISEASE

Ho, S., Bae, D.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 88 KB

english, 2018

494

DMD TREATMENT: ANIMAL MODELS

Boulanger Piette, A., Marcadet, L., Hamoudi, D., Bossé, S., Argaw, A., Frenette, J.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

495

DMD CLINICAL THERAPIES I

Buyse, G., Drake, R., Hasham, S., Quinlivan, R., Mercuri, E., Mayer, O.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

496

DMD CLINICAL THERAPIES II

Buyse, G., Meier, T., Leinonen, M., Hasham, S., Mayer, O., Voit, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

497

DMD TREATMENT: ANIMAL MODELS

Eilers, W., Gadd, A., Foster, H., Foster, K.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 102 KB

2018

498

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Solheim, T., Fornander, F., Møgelvang, R., Poulsen, N., Andersen, A., Eisum, A., Duno, M., Bundgaard, H., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 62 KB

2018

499

DMD TREATMENT: ANIMAL MODELS

Dalle Pazze, L., Gordish-Dressman, H.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

500

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Luce, L., Carcione, M., Mazzanti, C., Mesa, L., Dubrovsky, A., Giliberto, F.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 97 KB

english, 2018

501

CMT AND NEUROGENIC DISEASE

Ho, S., Bae, D.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 88 KB

2018

502

CONGENITAL MUSCULAR DYSTROPHIES

Foley, A.R., Leach, M., Averion, G., Hu, Y., Yun, P., Neuhaus, S., Saade, D., Arevalo, C., Fink, M., DeCoster, J., Mendoza, C., Mayer, O., Hausmann, R., Petraki, D., Cheung, K., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

503

DMD CLINICAL THERAPIES I

Buyse, G., Drake, R., Hasham, S., Quinlivan, R., Mercuri, E., Mayer, O.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 64 KB

2018

504

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 155 KB

2018

505

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 61 KB

2018

506

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 22 KB

2018

507

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 23 KB

2018

508

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 38 KB

2018

509

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 36 KB

2018

510

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 62 KB

2018

511

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 19 KB

2018

512

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 66 KB

2018

513

DMD CLINICAL THERAPIES I

Richard, F., Vandenborne, K., Sweeney, H., Finanger, E., Tennekoon, G., Shieh, P., Willcocks, R., Walter, G., Rooney, W., Forbes, S., Triplett, W., Yum, S., Mancini, M., MacDougall, J., Fretzen, A., B

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 65 KB

2018

514

DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Lara, S., Saez, V., Santander, P., Fariña, G., Troncoso, M., Legaza, G.

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 67 KB

2018

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