Volume 23; Issue 9-10

Main
Neuromuscular Disorders
Volume 23; Issue 9-10

Neuromuscular Disorders

Volume 23; Issue 9-10

1

P.6.4 Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric, molecular and clinical, double-blind, placebo-controlled study

Morandi, L., Abiusi, E., Pasanisi, M.B., Lomastro, R., Fiori, S., Di Pietro, L., Angelini, C., Sorarù, G., Gaiani, A., Mongini, T., Vercelli, L., Vasco, G., Vita, G., Vita, G.L., Messina, S., Politano

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

2

P.4.11 Developing therapies for congenital myopathies by high throughput chemical screening in ryanodine receptor 1 mutant zebrafish

Gupta, V.A., Kuwada, J.Y., Beggs, A.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

3

P.17.3 Changes in the six minute walk test (6MWT) in Pompe disease

Dubrovsky, A., Chloca, F., Corderi, J.R., Jauregui, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

4

O.20 BMP signalling controls muscle mass

Amthor, H., Sartori, R., Schirwis, E., Blaauw, B., Bortolanza, S., Zhao, J., Enzo, E., Stantzou, A., Mouisel, E., Toniolo, L., Ferry, A., Stricker, S., Goldberg, A.L., Dupont, S., Piccolo, S., Sandri,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

5

P.10.17 Morphological changes in skeletal muscle associated with chronic ischemia

Oldfors, A., Ullman, M., Fyhr, I.M., Moslemi, A.R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

6

P.3.5 Identification of rare variants in GNE and other sialic biosynthetic genes in HIBM2 and sIBM

Harms, M.B., Kakkis, E., Allred, P., Hilliard, J.K., Cooper, P., Florence, J., Baloh, R.H., Pestronk, A., Weihl, C.C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

7

T.I.2 Exon skipping and PRO044 in Duchenne muscular dystrophy: Extending the program

Ferlini, A., Goemans, N., Tulinius, M., Niks, E.H., Dorricott, S., Morgan, A., Lourbakos, A., Kimpe, S., Wilson, R., Armaroli, A., van Deutekom, J., Campion, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

8

P.11.1 Peptide-PMO induced exon-skipping restores muscle physiology in the mdx mouse

Wells, K.E., Muses, S., Terry, R., Wood, M.J., Gait, M.J., Wells, D.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

9

P.19.5 Development of an alphascreen-based substrate ubiquitination assay to identify inhibitors of the muscle ubiquitin ligase MuRF1

Swearingen, C., Dixon, J., Xu, Y., Thirunavukkarasu, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

10

P.7.14 Effects of a regular aquatic therapy program on one individual with Duchenne Muscular Dystrophy (DMD): A case study

Nelson, L., Early, D., Iannaccone, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

11

P.9.11 Transgenic zebrafish expressing mutant skeletal muscle actin, acta1a, model human nemaline myopathy

Ceyhan, O., Beggs, A.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

12

18th WMS Congress – 2013 – Program

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 558 KB

english, 2013

13

O.5 Mutations in MuRF1 and MuRF3 cause a novel protein aggregate myopathy and cardiomyopathy

Olivé, M., Abdul-Hussein, S., Oldfors, A., Fürst, D.O., van der Ven, P.F.M., Gonzalez-Mera, L., Gonzalez-Costello, J., Torrejon-Escribano, B., Alio, J., Pou, A., Ferrer, I., Tajsharghi, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

14

P.1.14 Knee extensor muscle force correlates with and may predict sit to stand ability in congenital muscular dystrophy

Jain, M., Hall, D., Waite, M., Collins, J., Meilleur, K., Rutkowski, A., Dastgir, J., Donkervoort, S., Leach, M., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

15

P.5.6 Aerobic training in patients with myopathy and hyperCKemia caused by anoctamin 5 deficiency

Vissing, C.R., Preisler, N.R., Husu, E., Prahm, K.P., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

16

P.2.13 Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy

Ricotti, V., Scoto, M., Mandy, W., Entwistle, K., Robb, A., Pane, M., Mercuri, E., Skuse, D., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

17

M.I.4 Progress in gene therapy for muscular dystrophy using vascular delivery of GALGT2

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

18

P.3.9 Unusual pathologic features in a patient with clinical features of Laing early onset distal myopathy

Margeta, M., de la Motte, G., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

19

O.2 Collagen type XII: A new congenital matrix and muscle disease

Zou, Y., Zwolanek, D., Hu, Y., Schreiber, G., Brockmann, K., Izu, Y., Tian, Z., Devoto, M., Gandhy, S., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N., Birk, D.E., Barton, E.R., Koch, M

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

20

P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing

Scoto, M., Cirak, S., Whyte, T., Foley, A.R., Pitt, M., Polke, J., Hurles, M.E., Manzur, A.Y., Reilly, M.M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

21

P.21.3 Skeletal muscle provides a permissive environment for Th2-M2 polarisation in neuromuscular sarcoidosis

Preusse, C., Goebel, H.H., Pehl, D., Doeser, A., Kley, R.A., Vorgerd, M., Heppner, F.L., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

22

P.7.15 What can we learn from an assisted bicycle training in a symptomatic girl with Duchenne muscular dystrophy? A case study

Huijben, A.L.C., Jansen, M., Ginjaar, H.B., Lammers, M., Putten, M., Alfen, N., de Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

23

P.8.10 Losartan up-regulates NFκB signaling pathway and favors survival versus apoptosis in the dy2J/dy2J mouse model of Congenital Muscular Dystrophy

Elbaz, M., Yanay, N., Gelb, S., Rabie, M., Rosenbaum, S. Mitrani, Nevo, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

24

P.17.11 c.250G>A in ETFDH, a common sequence variant in southern Chinese population is a pathogenic mutation to cause multiple acyl-CoA dehydrogenase deficiency

Liang, W.C., Lin, Y.F., Liu, D.Y., Nishino, I., Jong, Y.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

25

O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy

Joubert, R., Moal, C., Vignaud, A., Martin, S., Richard, I., Moullier, P., Beggs, A.H., Childers, M.K., Mavilio, F., Buj-Bello, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

26

P.11.7 Prediction equations based on arm measurements may overestimate standing height in Duchenne Muscular Dystrophy (DMD) patients on glucocorticoid (GC) therapy

Wong, B.L., Miller, L., Hu, S.Y., Horn, P., Cantanzaro, A., Godshall, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

27

P.5.19 Fhl1 W122S knock-in mice manifest late-onset mild myopathy

Emmanuele, V., Kubota, A., Garcia-Diaz, B., Garone, C., Akman, H.O., Tanji, K., Quinzii, C.M., Hirano, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

28

P.18.9 Pain in patients with myotonic dystrophy: Comparison between type 1 and type 2

Vohanka, S., Parmova, O., Strenkova, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

29

P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients

Laforêt, P., Semplicini, C., Dahlqvist, J.R., Eymard, B., Bello, L., Witting, N., Stojkovic, T., Angelini, C., Duno, M., Leturcq, F., Carlier, R.Y., Vissing, J., Pegoraro, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

30

P.4.6 Useful differential diagnostic markers between congenital myotonic dystrophy and X-linked myotubular myopathy

Hamanaka, K., Noguchi, S., Hayashi, Y.K., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

31

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

Malfatti, E., Lehtokari, V.L., Schaeffer, U., Bohm, J., Estournet, B., Quijano-Roy, S., Monges, S., Lubieniecki, F., Bellance, R., Taratuto, A.L., Eymard, B., Fardeau, M., Wallgren-Pettersson, C., Lap

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

32

P.9.14 Next generation sequencing provides diagnosis for multiple foetal akinesia disorders

Todd, E.J., Ong, R., Barnett, C., Slee, J., Ryan, M., Howell, K., Sivadorai, P., Davis, M.R., Allcock, R.J.N., Laing, N.G., Ravenscroft, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

33

P.14.16 Longitudinal changes in strength and functional outcomes in sporadic inclusion body myositis

Lowes, L.P., Alfano, L.N., Dvorchik, I., Yin, H., Maus, E.G., Flanigan, K.M., Mendell, J.R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

34

P.1.1 Natural history of Ullrich congenital muscular dystrophy

Yonekawa, T., Komaki, H., Okada, M., Hayashi, Y.K., Noguchi, S., Nonaka, I., Sugai, K., Sasaki, M., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

35

P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

Fattori, F., Maggi, L., Bruno, C., Codemo, V., Tasca, G., Battini, R., Berardinelli, A., Catteruccia, M., Cassandrini, D., Fiorillo, C., Pane, M., Pegoraro, E., Mora, M., Morandi, L., Comi, P.G., Merc

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

36

M.I.3 The role of laminins in myomatrix assembly and skeletal muscle stability

Ruegg, M.A., Meinen, S., Maier, G., Lin, S., Yurchenco, P.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 136 KB

english, 2013

37

P.7.20 Effects of dynamic arm training on trunk muscle strength and lower extremity functions in children with Duchenne Muscular Dystrophy

Alemdaroglu, I., Karaduman, A.A., Yilmaz, O., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

38

P.2.11 CINRG Duchenne Natural History Study: Relationship of longitudinal measures of ambulatory timed function tests and loss of clinical milestones

McDonald, C.M., Duong, T., Henricson, E., Abresch, T., Hu, F., Cnaan, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

39

P.1.3 Postural changes in forced vital capacity characterize congenital muscular dystrophy subtypes

Meilleur, K.G., Linton, M.M., Rutkowski, A., Leach, M.E., Jain, M., Jolley, C., Barton, M., McGraw, P., Collins, J., Donkervoort, S., Dastgir, J., Fontana, J.R., Sawnani, H., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

40

P.18.4 Physical activity profile and barriers to physical activity in individuals with myotonic dystrophy

Eichinger, K., Dekdebrun, J., Dilek, N., Chen, D., Pandya, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

41

P.7.13 Whole body vibration training lowers serum creatine kinase levels in boys with Duchenne muscular dystrophy

Mah, J.K., Khan, A., Chiu, A., Ramage, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

42

P.13.12 An objective method for immunofluorescence analysis of dystrophin levels in muscle from DMD patients in clinical studies

Beekman, C., Testerink, J., Giannakopoulos, S., Kreuger, D., Sipkens, J., van Deutekom, J., Campion, G., de Kimpe, S., Lourbakos, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

43

P.9.13 Congenital myopathies in a pediatric referral center

Karakaya, M., Talim, B., Kale, G., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

44

P.20.6 Muscle physiology properties of mouse models for Duchenne muscular dystrophy

van Putten, M., Terry, R., Hulsker, M., Wells, K.E., Aartsma-Rus, A., Wells, D.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

45

P.12.4 Great phenotypic variability in two siblings affected by congenital myasthenic syndrome associated with mutations in MUSK

Maggi, L., Brugnoni, R., Confalonieri, P., Scaioli, V., Morandi, L., Engel, A.G., Mantegazza, R., Bernasconi, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

46

P.10.9 A cross sectional validation study of the English version of the NM-Score in patients with neuromuscular diseases

Vuillerot, C., Rippert, P., Berard, C., Bonnemann, C., Meilleur, K., Jain, M., Waite, M., Payan, C.A.M., Hamroun, D., Poirot, I., Ecochard, R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

47

P.13.2 A prostaglandin D2 metabolite is elevated in the urine samples of patients with Duchenne muscular dystrophy

Nakagawa, T., Takeuchi, A., Kakiuchi, R., Lee, T., Yagi, M., Awano, H., Iijima, K., Takeshima, Y., Urade, Y., Matsuo, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

48

P.12.5 Subunit specific effects of the invariant AChR Cys-loop Aspartate residues on gating and AChR expression

Shen, X.M., Brengman, J.M., Neubauer, D., Engel, A.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

49

P.20.1 Optimised dystrophin mini-constructs for gene delivery

Reza, M., Laval, S.H., Counsell, J., Muntoni, F., Morgan, J., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

50

P.9.10 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

Ottenheijm, C.A.C., Buck, D., de Winter, J., Ferrara, C., Piroddi, N., Tesi, C., Jasper, R., Malik, F., Meng, F., Stienen, G., Beggs, A.H., Labeit, S., Poggesi, C., Lawlor, M., Granzier, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

51

P.16.2 The DUX4 promoter is expressed in FSHD-affected tissues

Wallace, L., Liu, J., Garwick-Coppens, S., Guckes, S., Harper, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

52

P.8.2 Reduction of LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

Balci-Hayta, B., Talim, B., Topaloglu, H., Kale, G., Dincer, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

53

P.21.6 A case of familial Rippling muscle disease showing decreased of caveolin-3 in muscle biopsy suggesting an immunologic mechanism

Arahata, H., Furuya, H., Kinoshita, M., Fujii, N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

54

P.3.3 MUC1 is associated with the pathogenesis of GNE-myopathy

Kurashige, T., Takahashi, T., Nagano, Y., Kushitani, K., Sugie, K., Ueno, S., Arihiro, K., Matsumoto, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

55

P.13.1 Molecular biomarker of angiogenesis in neuromuscular disorders

Saito, T., Kikuchi-Taura, A., Tada, S., Iyama, A., Kimura, N., Matsumura, T., Fujimura, H., Sakoda, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

56

P.8.5 Therapeutic intervention for dysphagia in patients with Fukuyama congenital muscular dystrophy

Ishigaki, K., Murakami, T., Saito, T., Sato, T., Kato, I., Osawa, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

57

P.13.3 Serum miRNA profiling of GRMD dog identified novel cardiomyopathy biomarker candidates for DMD

Jeanson-Leh, L., Krimi, S., Buisset, J., Amor, F., Guiner, C. Le, Servais, L., Voit, T., Israeli, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

58

P.20.2 Restoration of dystrophin expression after skipping of single and double exon DMD duplications in patient-derived cell lines using antisense oligonucleotide and AAV-U7snRNA approaches

Vulin, A., Wein, N., Findlay, A.R., Wilton, S.D., Flanigan, K.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

59

P.2.8 The 6-min walk test and clinical endpoints in Duchenne MD: Reliability, validity, and clinically-important differences

McDonald, C.M., Henricson, E.K., Abresch, R.T., Florence, J.M., Eagle, M., Gappmaier, E., Glanzman, A., Spiegel, R., Barth, J., Elfring, G., Reha, A., Peltz, S.W., P.T.C. Study Group,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

60

P.14.9 Functional redundancy of MyD88-dependent signaling pathways in a murine model of histidyl-tRNA synthetase-induced myositis

Fernandez, I., Harlow, L., Zang, Y., Liu-Bryan, R., Ridgway, W., Clemens, P., Ascherman, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

61

P.12.12 Preclinical in vitro and in vivo evaluation of sodium channel blockers as possible alternative to mexiletine in the treatment of myotonia

Desaphy, J.F., Carbonara, R., Costanza, T., Lentini, G., Cavalluzzi, M.M., Franchini, C., Conte Camerino, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

62

P.10.20 Recent and future additions to the MDA Monoclonal Antibody Resource for Neuromuscular Disorders

Le Thanh Lam, L., Holt, I., Humphrey, E., Sewry, C.A., Nguyen thi Man, M., Morris, G.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

63

P.21.5 Progress report on the development of new classification criteria for adult and juvenile idiopathic inflammatory myopathies

Lundberg, I.E., Tjärnlund, A., Bottai, M., Rider, L.G., Werth, V.P., Pilkington, C., de Visser, M., Alfredsson, L., Amato, A.A., Barohn, R.J., Liang, M.H., Singh, J.A., Miller, F.W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

64

O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder

Kornblum, C., Nicholls, T., Haack, T.B., Schoeler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., Wieland, T., Sciacco, M., Ronchi, D., Comi, G.P., Moggio, M., Quinzii,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

65

P.5.16 Predominant right ventricular involvement in patients with laminopathies

Ben Yaou, R., Wahbi, K., Meune, C., Fressart, V., Feldman, L., Behin, A., Pénisson-Besnier, I., Urtizberea, J.A., Eymard, B., Richard, P., Bonne, G., Duboc, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

66

P.13.13 Electrical impedance myography in DMD: A multi-center study of reliability and relationships to strength and function

Zaidman, C., Bohorquez, J., Wang, L., Florence, J., Connolly, A.M., Escolar, D.M., Williams, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

67

P.2.6 Comparison of 6MWD and person-reported functional measures in boys with Duchenne muscular dystrophy aged 4–12years

Henricson, E.K., Abresch, R.T., Han, J.J., Nicorici, A., Goude, E.M., de Bie, E., McDonald, C.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

68

O.15 Engineering a Wnt7a-based protein therapeutic for the treatment of muscular dystrophy

Parone, P., Bennett, M., Lee, T., Lai, K., Fitch, M., Lynch, C., Rudniki, M., Flynn, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

69

Title

Journal:

Neuromuscular Disorders

Year:

2013

File:

PDF, 1.20 MB

2013

70

I.I.2 Role of cytokines and chemokines in inflammatory myopathies

De Bleecker, J.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

71

P.1.12 Whole exome sequencing as a genetic diagnostic tool for congenital muscular dystrophies

Ceyhan, O., Talim, B., Beggs, A.H., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

72

P.8.1 Muscle biopsy findings in Limb Girdle muscle Dystrophy 2I (LGMD2I)

Lindal, S., Myreng, K., Løseth, S., Jonsrud, C., Alhamidi, M., Stensland, E., Nilssen, Ø.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

73

P.5.10 Clinical and ultrastructural changes in transportinopathy

Angelini, C., Peterle, E., Fanin, M., Cenacchi, G., Nigro, V.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

74

P.3.8 Laing early-onset distal myopathy in a Belgian family

Van den Bergh, P.Y.K., Laterre, E.C., Martin, J.J., Fardeau, M., Lecouvet, F., Liebaers, I., Schmedding, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

75

P.10.12 Difference of the mechanism of dysphagia between Duchenne muscular dystrophy and myotonic dystrophy type 1

Furuya, H., Umemoto, G., Kikuta, T., Arahata, H., Fujii, N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

76

G.I.1 New advances in facioscapulohumeral dystrophy

van der Maarel, S.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

77

P.4.5 Muscle NMR imaging in the rare E650K mutation in the DNM2 gene in a centronuclear myopathy patient

Vainzof, M., Calyjur, P., Otaduy, M.C.G., Almeida, C.F., Martins-Bach, A., Carlier, R.Y., Gurgel-Giannetti, J., Amaro, E., Carlier, P.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

78

P.17.6 Globular inclusions are a frequent finding in infantile Pompe’s disease

Jou, C., Nascimento, A., Ortez, C., Olivè, M., Ferrer, I., Cusí, V., Rovira, C., Sunol, M., Corbera, J., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

79

O.1 Collagen XII as a new disease gene for Bethlem-like myopathy

Hicks, D., Farsani, G. Torabi, Laval, S., Collins, J., Martoni, E., Shah, A., Zou, Y., Koch, M., Bonnemann, C., Lochmuller, H., Bushby, K., Roberts, M., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

80

P.7.2 Natural history of a steroid naive DMD cohort

Steffensen, B.F., Jeppesen, J., Werlauff, U., Rahbek, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

81

P.17.7 Quantitative NMR imaging of lower limb musculature in type II glycogenosis patients: Preliminary analysis of a 4-year follow-up

Carlier, P.G., Azzabou, N., Loureiro de Sousa, P., Carlier, R.Y., Boisserie, J.M., Wary, C., Orlikowski, D., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

82

P.8.7 Assessment of neuromuscular junction abnormalities induced by α-dystroglycan glycosylation defects

Fernandez-Fuente, M., Kim, J., Wells, D., Brown, S.C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

83

P.4.8 X-linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report

Ortez, C., Nascimento, A., Jou, C., Jimenez-Mallebrera, C., Paco, S., Corbera, J., Viancalana, V., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

84

P.20.10 Human adipose mesenchymal stem-cells injections in golden retriever muscular dystrophy (GRMD) dogs: a four-year follow-up

Zatz, M., Vieira, N., Secco, M., Zucconi, E., Valadares, M., Bueno, C.R., Vainzof, M., Gomes, J., Landini, V., Andrade, T.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

85

P.7.6 Needs of caregivers/families affected by Duchenne and Becker Muscular Dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

Pandya, S., Caspers, K., Eichinger, K., Mathews, K., Romitti, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

86

P.1.10 siRNA-mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrich Congenital muscular dystrophy

Bolduc, V., Zou, Y., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

87

P.15.4 ZASP–sZM mutations in myofibrillar myopathy cause skeletal muscle Z-disc disruption by disassembling α-actinin cross-linked skeletal actin filaments

Lin, X., Ruiz, J., Bajraktari, I., Banerjee, S., Gribble, K., Griggs, R., Fischbeck, K., Mankodi, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

88

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

89

P.2.5 Performance of Upper Limb Scale for use in Duchenne muscular dystrophy – An iterative process to establish its suitability for clinical trials

Mayhew, A.G., Eagle, M., Mazzone, E., Main, M., Ash, M., James, M.K., Vandenhauwe, M., Klingels, K., Duong, T., Florence, J., Decostre, V., Mercuri, E., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

90

P.18.8 Day profile of plasma glucose in diabetic-complicated myotonic dystrophy type 1

Takada, H., Goto, T., Kon, S., Oyama, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

91

P.14.12 Mutations in prion domains of RNA binding proteins hnRNPA2/B and A1 cause IBM associated with Paget’s disease, dementia and ALS

Weihl, C.C., Benatar, M., Kimonis, V.E., Shorter, J., Taylor, J.P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

92

P.8.3 Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy

Sato, T., Ishigaki, K., Murakami, T., Saito, K., Osawa, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

93

P.17.13 Steroid-responsive polyneuropathy with MRI cauda equina root involvement in a girl with novel heterozygous POLG mutation

Kostera-Pruszczyk, A., Nojszewska, M., Maj, E., Golebiowski, M., Kaliszewska, M., Tonska, K., Bartnik, E., Mazurczak, T., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

94

P.16.9 Epigenetic variability is a modifier of facioscapulohumeral muscular dystrophy

Jones, T.I., Debarnot, C., Himeda, C., Sun, C.Y., Emerson, C.P., Jones, P.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

95

P.8.12 Mild phenotype in a Limb Girdle muscular dystrophy type 2I mouse model homozygous for the common L276I mutation

Krag, T.O., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

96

P.16.1 DUX4 regulates expression of the Pro-Apoptotic Gene, p63

Domire, J.S., Wallace, L.M., Guckes, S., Liu, J., Harper, S.Q.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

97

P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study

Foley, A.R., Quijano-Roy, S., Collins, J., Straub, V., McCallum, M., Deconinck, N., Mercuri, E., Pane, M., D’Amico, A., Bertini, E., North, K., Ryan, M.M., Auh, S., Muntoni, F., Bönnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

98

P.11.10 Height predictions using ulna length are inaccurate in glucocorticoid-treated boys with Duchenne Muscular Dystrophy (DMD)

Rutter, M.M., Collins, J., Sawnani, H., Horn, P., Blum, S., Hu, S.Y., Morehart, P., Taylor, M.D., Wong, B.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

99

P.18.2 A ten-year follow-up study on muscle strength and motor function in children, adolescents and young adults with myotonic dystrophy

Kroksmark, A.K., Ekström, A.B., Stridh, M.L., Tulinius, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

100

P.1.18 NMR imaging comparison of dystrophic mouse models: mdx, Large, mdx/Large

Martins-Bach, A.B., Malheiros, J., Melo Machado, P.C., Almeida, C.F., Matot, B., de Sousa, P.L., Tannús, A., Carlier, P.G., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

101

P.9.2 Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability

Park, J.S., Shin, J.H., Hwang, S.J., Kim, D.S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

102

P.9.3 Repair of mutant nebulin transcripts by exon exchange

Laitila, J., Dowling, J.J., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

103

P.10.3 The characteristics of low back pain and its effects on quality of life in patients with neuromuscular diseases

Ayvat, E., Kilinc, M., Demir, Y. Parlak, Yildirim, S.A., Tan, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

104

P.20.14 Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype than the general Duchenne population

Servais, L., Seferian, A., Ben Yahou, R., Leturcq, F., Zehrouni, K., Benali, M., Decostre, V., Delahais, V., Butoianu, N., Cuisset, J.M., Cances, C., Le Moing, A.G., Laugel, V., Klein, A., Sabouraud,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

105

P.18.5 The value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2)

Gawel, M., Szmidt-Salkowska, E., Lusakowska, A., Nojszewska, M., Sulek, A., Krysa, W., Rajkiewicz, M., Seroka, A., Kaminska, A.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

106

P.13.4 Diaphragm structural abnormalities revealed by NMR imaging in the dystrophic dog

Thibaud, J.L., Matot, B., Barthélémy, I., Blot, S., Carlier, P.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

107

O.21 Congenital Myasthenic Syndrome (CMS), autophagic myopathy, and cognitive dysfunction caused by mutations in DPAGT1

Selcen, D., Shen, X.M., Li, Y., Wieben, E.D., Engel, A.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

108

P.10.14 IBIC-NMD: Database of muscular images

Nakayama, T., Oya, Y., Komaki, H., Sato, N., Satoshi, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

109

P.11.6 Functional motor changes in Duchenne Muscular Dystrophy (DMD) patients on long term daily glucocorticoid (GC) treatment

Wong, B.L., Miller, L., Hu, S.Y., Horn, P., McCormick, A., McGuire, M., Rybalsky, I., Morehart, P., Bange, J., Collins, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

110

P.10.11 Validity of the 2min walk test as an outcome measure in individuals with CMD and other neuromuscular diseases

Jain, M., Logaraj, R., Waite, M., Shieh, C.Y., Dastgir, J., Donkervoort, S., Leach, M., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

111

P.12.1 Diagnostic pitfalls in congenital myasthenic syndromes in children: Clinical experience in an academic neuromuscular centre

Ekker, M.S., Rietveld, A., Kamsteeg, E.J., van Alfen, N., Sie, L.T.L., Erasmus, C.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

112

P.17.17 McArdle disease with pronounced axial myopathy

Witting, N., Duno, M., Piraud, M., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

113

P.16.6 Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD

Broucqsault, N., Roche, S., Morere, J., Gaillard, M.C., Levy, N., Nguyen, K., Magdinier, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

114

P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy

Tsai, L., Schwake, M., Corbett, M.A., Gecz, J., Berkovic, S., Shieh, P.B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

115

P.4.13 Central core disease (CCD): Improving the screening for mutations in RYR1 gene

Cuperman, T., Alcântara, S., Lourenço, N.C.V., Yamamoto, L.U., Pavanello, R.C., Silva, H.C., Gurgel-Gianetti, J., Zatz, M., Oliveira, A.S., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

116

P.8.6 Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

Xiong, H., Tan, D.D., Wang, S., Chang, X.Z., Yuan, Y., Wu, X.R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

117

P.10.16 The presence of developmental and fetal/neonatal myosin in neonatal human muscle

Feng, L., Scoto, M., Chambers, D., Phadke, R., Muntoni, F., Sewry, C.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

118

P.2.20 Prioritizing the worries of parents of children with Duchenne muscular dystrophy using best-worst scaling

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

119

P.7.18 Effects of upper extremity exercise training on respiratory function and quality of life in children with Duchenne Muscular Dystrophy

Alemdaroglu, I., Karaduman, A.A., Yýlmaz, O., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

120

P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Ferreboeuf, M., Mariot, V., Bessières, B., Vasiljevic, A., Attié-Bitach, T., Collardeau, S., Roche, S., Magdinier, F., Robin-Ducellier, J., Rameau, P., Whalen, S., Sacconi, S., Mouly, V., Butler-Brown

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

121

P.16.7 Length dependent telomere looping affects long-distant gene expression (5Mb) in FSHD

Robin, J.D., Ludlow, A.T., Stadler, G., Magdinier, F., Wright, W.E., Shay, J.W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

122

T.I.1 Targeted therapies for myotonic dystrophy

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

123

P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry

van der Ploeg, A., Angelini, C., Kishnani, P.S., Amartino, H., Müller-Felber, W., Kruijshaar, M.E., Devecseri, Z., Miller, T., Wilson, A., Case, L.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

124

P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series

Scoto, M., Rossor, A., Harms, M.B., Calissano, M., Cirak, S., Foley, A.R., Sewry, C., Hafezparast, M., Robb, S., Manzur, A.Y., Baloh, R.H., Reilly, M.M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

125

O.9 First-in-human phase I study to assess safety, tolerability and dose for intrathecal injection of ISIS-SMNRx in SMA patients

Swoboda, K., Chiriboga, C., Darras, B., Iannaccone, S., Montes, J., Rausch, N., Parad, R., Johnson, S., Vivo, D. De, Norris, D., Alexander, K., Bennet, F.C., Bishop, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

126

O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches

Savarese, M., Torella, A., Giugliano, T., del Vecchio Blanco, F., di Fruscio, G., Dionisi, M., Iacomino, M., Garofalo, A., Piluso, G., LGMD Network, I. Italian, Nigro, V.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

127

P.20.11 Dystrophin rescue needed to recover a correct location of nNOS and the return to a normalized RyR1 status in treated GRMD dogs

Gentil, C., le Guiner, C., Cherel, Y., Montus, M., Moulier, P., Servais, L., Voit, T., Pietri-Rouxel, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

128

P.11.11 Pulmonary function characteristics of boys with Duchenne Muscular Dystrophy by age groups, ambulatory status and steroid use

Abresch, R.T., McDonald, C.M., Henricson, E.K., Gustavo, N., Hu, F., Duong, T., Joyce, N., Mah, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

129

P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1

Oldfors, A., Hedberg, C., Lindvall, B., Tulinius, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

130

P.5.3 Whole body MRI study in 27 genetically confirmed Chilean patients with dysferlinopathy

Díaz, J., Woudt, L., Castiglioni, C., Suazo, L., Garrido, C., Bevilacqua, J.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

131

P.17.14 Myohistological mitochondrial changes in patients with mtDNA singular deletions, multiple deletions and A3243G point mutation

Joshi, P.R., Zierz, C., Zierz, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

132

P.6.6 Splice switching Antisense Oligonucleotides: A “kink” in the design?

Price, L., Mitrpant, C., Fletcher, S., Wilton, S.D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

133

P.19.6 PIK3CA somatic mutation in congenital monomelic muscular hypertrophy of the upper extremity. Case report

Castiglioni, C., Orellana, P., Las Heras, F., Hinzpeter, D., Paolinelli, P., Bevilacqua, J.A., Bertini, E., Alvarez, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

134

P.6.1 Clinical and upper limb evaluation at one year of non-ambulant patients with spinal muscular atrophy

Seferian, A.M., Moraux, A., Benali, M., Canal, A., Decostre, V., Diebate, O., Deconinck, N., Parys, F. Van, Vereecke, W., Wittevrongel, S., Jousten, V., Denis, S., Cuisset, J.M., Tiffreau, V., Mayer,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

135

P.9.8 Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene

Lehtokari, V.L., Laitila, J., Hanif, M., Pelin, K., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

136

P.5.13 Remarkable muscle pathology in DNAJB6 mutated LGMD1D

Sandell, S.M., Huovinen, S., Palmio, J.M., Haapasalo, H., Udd, B.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

137

P.11.21 Bioanalysis of a double blind, placebo-controlled clinical phase 2 study of drisapersen for the treatment of boys suffering from Duchenne muscular dystrophy and comparison to clinical outcome results

Lourbakos, A., Beekman, C., Holling, T., Testerink, J., Duinsbergen, D., Giannakopoulos, S., Morgan, A., van Deutekom, J., Campion, G., Rolfe, K., Kraus, J., Hood, S., de Kimpe, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

138

P.10.2 Rasch measurement model to investigate the Turkish version of Abilhand-kids questionnaire in neuromuscular disease

Oksuz, C., Kilinc, M., Alemdaroglu, Ý., Karahan, S., Demirhan, H.A., Yilmaz, O.T., Yildirim, S.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

139

P.21.1 Autophagy as a link between immunity and inflammation in idiopathic inflammatory myopathies

Cappelletti, C., Vattemi, G.N.A., Tonin, P., Salerno, F., Kapetis, D., Maggi, L., Confalonieri, P., Morandi, L., Mora, M., Tomelleri, G., Mantegazza, R., Bernasconi, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

140

P.4.14 A novel mutation in RYR1 gene for central core disease in a Chinese family

Wang, M., Lu, Y., Da, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

141

O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies

Maerkens, A., Pfeffer, G., Sarkozy, A., Chevessier, F., Uzkoreit, J., Feldkirchner, S., Barresi, R., Bushby, K., Straub, V., Oldfors, A., Marcus, K., Vorgerd, M., Schröder, R., Lochmüller, H., Chinner

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

142

P.7.9 Current status of dystrophinopathy patient registry in Japan: Remudy

Kimura, E., Nakamura, H., Hayashi, Y.K., Mori-Yoshimura, M., Shimuzu, R., Komaki, H., Nishino, I., Kawai, M., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

143

P.19.8 The effect of water-soluble fullerene with different number of hydroxyl groups in muscle regeneration process of experimental murine skeletal muscle

Ishii, A., Ohkoshi, N., Yoshida, M., Tamaoka, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

144

P.14.4 Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis

Carlier, P.G., Azzabou, N., de Sousa, P. Loureiro, Florkin, B., Deprez, E., Romero, N.B., Denis, S., Decostre, V., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

145

P.4.12 Association of two mutations in the RYR1 gene in central core disease: Recessive or modifying effect?

Cuperman, T., Alcântara, S., Canovas, M., Yamamoto, L.U., Pavanello, R.C., Zatz, M., Oliveira, A.S., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

146

P.5.17 LMNA-associated myopathies: The Italian Laminopathies Network experience in a large cohort of patients

Maggi, L., D’Amico, A., Sivo, S., Pane, M., Ricci, G., Vercelli, L., D’ambrosio, P., Scarlato, M., Pegoraro, E., Toscano, A., Benedetti, S., Lattanzi, G., Bertini, E., Mercuri, E., Siciliano, G., Rodo

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

147

P.10.13 Swallowing evaluation in adult neuromuscular patients

Serel, S., Demir, N., Karaduman, A.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

148

P.17.10 New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD)

Toscano, A., Barca, E., Rodolico, C., Romeo, S., Ciranni, A., Aguennouz, M., Vita, G., Musumeci, O.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

149

P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice

Danièle, N., Jamet, T., Moal, C., Joubert, R., Messaddeq, N., Lawlor, M.W., Vignaud, A., Buj-Bello, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

150

T.I.3 Perspectives on microdystrophins and delivery

Dickson, G., Le Guiner, C., Montus, M., Servais, L., Cherel, Y., Hogrel, J.Y., Carlier, P., Masurier, C., Adjali, O., Athanasopoulos, T., Koo, T., Malerba, A., Mavilio, F., Voit, T., Moullier, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

151

I.I.4 Autoimmune muscle diseases in dogs and cats: Spontaneous models for evaluation of therapies?

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

152

P.4.10 Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy

Rendu, J., Brocard, J., Monnier, N., Piétri-Rouxel, F., Garcia, L., Lunardi, J., Fauré, J., Fourest-Lieuvin, A., Marty, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

153

P.14.2 Dermatomyositis associated with MDA-5 antibodies: Report of the first European series

Allenbach, Y., Leroux, G., Uzuhnan, Y., Valeyre, D., Saadoun, D., Aubart, F., Hervier, B., Hie, M., Wipff, J., Myiara, M., Charuel, J.L., Musset, L., Audia, S., Devillier, H., Bonnote, B., Barete, S.,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

154

P.2.15 Expectations and decision making in clinical trials for Duchenne and Becker muscular dystrophy

Peay, H., Sheffer, H., Tibben, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

155

P.14.7 Anti-SRP antibody induces muscle cell lysis through complement mediated pathway

Rojana-udomsart, A., Mitrpant, C., Bundell, C., Hollingsworth, P., Mastaglia, F.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

156

P.16.12 OPMD from the myoblast’s and fibroblast’s point of view

Gidaro, T., Negroni, E., Klein, P., Oloko, M., Lesnik, M., Bigot, A., Mamchaoui, K., Périé, S., Guily, J.L. St, Butler-Browne, G., Mouly, V., Trollet, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

157

P.17.16 Enophthalmos and MELAS

Simon, J.P., Mouriaux, F., Emery, E., Chapon, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

158

P.16.13 Myopathy with typical OPMD morphology without association with the PABPN1 gene locus

Hedberg, C., Chinnery, P., Lindberg, C., Martinsson, T., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

159

P.11.5 PMO-mediated dystrophin exon 23 skipping restores mitochondrial function in the mdx mouse heart

Fletcher, S., Viola, H.M., Adams, A.M., Wilton, S.D., Hool, L.C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

160

P.12.3 Do congenital myasthenic syndromes in childhood have a common face? Clinical profile of slow channel, CHRNE and RAPSYN mutations

Ekker, M.S., Rietveld, A., Eymard, B., Erasmus, C.E., Sie, L.T.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

161

P.18.10 A qualitative approach to exploring myotonic dystrophy type 1: Truths and misinformation

Ghavanini, A.A., LaDonna, K.L., Venance, S.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

162

P.8.4 Steroid Treatment for exacerbation of muscle weakness after viral infection in Fukuyama congenital muscular dystrophy

Murakami, T., Ishigaki, K., Sato, T., Osawa, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

163

P.3.7 A prodrug strategy to increase oral absorption and bioavailability of Sialic acid in an HIBM mouse model

Morris, G., Chan, Y., Grubb, J., Jungles, S., Kakkis, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

164

P.20.5 Muscle regeneration modification by mesenchymal cells: A novel cell therapy for muscular degeneration

Maeda, Y., Koga, A., Ishizaki, M., Hidaka, H., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

165

P.10.15 Clinical aspects on estimation of renal function in patients with primary neuromuscular disease

Lindberg, C., Aldenbratt, A., Andersson, B., Hakansson, K., Svensson, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

166

P.3.13 Gene expression profiling in Welander distal myopathy

Screen, M., Hackman, P., Johson, P., Huovinen, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

167

P.3.6 Antioxidant capacity is impaired in hyposialylated myotubes of GNE myopathy

Cho, A., Malicdan, M.C., Nonaka, I., Hayashi, Y.K., Nishino, I., Noguchi, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

168

T.I.4 Cell therapy and muscular dystrophy

Butler-Browne, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

169

P.16.5 Anxiety is responsible for altered sleep quality in Facio-Scapulo-Humeral Muscular Dystrophy (FSHD)

Leclair-Visonneau, L., Magot, A., Tremblay, A., Bruneau, X., Pereon, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

170

P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

Palmio, J., Evila, A., Tasca, G., Edstrom, L., Oldfors, A., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

171

P.11.8 The impact of deflazacort on upper extremity function in young adults with Duchenne muscular dystrophy

McAdam, L.C., Biggar, W.D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

172

P.14.14 LC3, p62 and TDP-43 immunohistochemistry in differentiation of inclusion body myositis from other T-cell inflammatory myopathies

Hiniker, A.E., Daniels, B.H., Lee, H.S., Margeta, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

173

P.5.18 Tissue-specific expression of nesprin isoforms and its relevance to muscular dystrophy and dilated cardiomyopathy

Holt, I., Thuy, D. Nguyen, Le Thanh Lam, L., Zhang, Q., Sewry, C.A., Shanahan, C.M., Morris, G.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

174

P.18.11 Nerve conduction alterations in Mexican patients with myotonic dystrophy type 1

Kaji, M.E., Jimenez, K.E., Escobar, R.E., Leon, S.R., Magaña, J.J., Hernandez, O.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

175

P.6.5 Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing

Mitrpant, C., Porensky, P.N., Zhou, H., Price, L., Muntoni, F., Fletcher, S., Wilton, S.D., Burghes, A.H.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

176

P.18.7 Endocrine function in patients with myotonic dystrophy type 1–9 year follow-up

Dahlqvist, J.R., Oerngreen, M.C., Witting, N., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

177

P.7.12 Recovery of ambulation and functional mobility in boys with Duchenne Muscular Dystrophy following femoral fractures

McCormick, A., Wong, B., McGuire, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

178

P.6.10 Phenotypic variability in a French family presenting with seipinopathy

Magot, A., Ollivier, Y., Latour, P., Perrier, J., Mercier, S., Maisonobe, T., Pereon, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

179

P.7.19 Effects of upper extremity exercise training on upper extremity endurance in patients with Duchenne Muscular Dystrophy

Alemdaroglu, I., Karaduman, A.A., Yýlmaz, O., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

180

P.1.7 Contiguous gene syndrome causing ColVI myopathy, dysmorphism, frontal atrophy and diaphragmatic hernia

Seferian, A.M., Vandenbrande, L., Allamand, V., de Becdelievre, A., Richard, P., Lyonnet, S., Malan, V., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

181

P.21.4 Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy

de Visser, M., van de Vlekkert, J., Maas, M., Hoogendijk, J.E., Schaik, I.N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

182

P.13.14 Future clinical and biomarker development for SMTC1100, the first utrophin modulator to enter clinical trials for Duchenne Muscular Dystrophy (DMD)

Tinsley, J.M., Robinson, N., Wilson, F.X., Horne, G., Fairclough, R.J., Davies, K.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

183

P.15.3 Effects of ZASP mutations on Z-disc proteins associated with myofibrillar myopathy in skeletal muscle

Lin, X., Brubaker, L., Bajraktari, I., Ohman, R., Griggs, R., Fischbeck, K., Mankodi, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

184

P.1.11 Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy

Bianco, F., D’Amico, A., Messina, S., Politano, L., Santorelli, F.M., Bruno, C., Boffi, P., Pegoraro, E., Berardinelli, A., Comi, G.P., Pini, A., Moroni, I., Bertini, E., Pane, M., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

185

P.5.12 A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology

Kubota, A., Melia, M.J., Ortolano, S., Vilchez, J.J., Gamez, J., Tanji, K., Bonilla, E., Palenzuela, L., Fernandez-Cadenas, I., Pristoupilova, A., Garcia-Arumi, E., Andreu, A.L., Navarro, C., Marti, R

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

186

P.5.11 LGMD1D mutations in DNAJB6 disrupt disaggregation of TDP-43

Bengoechea, R., Tuck, E.P., Stein, K.C., Pittman, S.K., Baloh, R.H., True, H.L., Harms, M.B., Weihl, C.C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

187

P.14.8 Ethnic origins influence the natural history modelling of necrotizing myopathy with anti-SRP antibodies

Bloch Queyrat, C., Rigolet, A., Allenbach, Y., Musset, L., Treluyer, J.M., Urien, S., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

188

P.19.7 Muscle wasting and repair after injury can be potentialy modulated by autologous growth factors combined with a TGF-β antagonist

Kelc, R., Trapecar, M., Vogrin, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

189

P.21.9 Responsiveness of muscle testing and functions in a retrospective 51 inflammatory myopathies patient series

Devilliers, H., Shewaro, N., Allenbach, Y., Rigolet, A., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

190

P.11.16 Three-dimensional gait analysis of Duchenne muscular dystrophy: A trial to evaluate the therapeutic effect of RNA/ENA chimera antisense oligonucleotide that induces dystrophin exon 45 skipping

Takeshima, Y., Yagi, M., Lee, T., Kusunoki, N., Ojima, I., Minami, S., Asai, T., Nakagawa, A., Iijima, K., Matsuo, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

191

P.1.13 Autophagy and the pathogenesis of congenital muscular dystrophies

Horstick, E., Li, X., Moore, S., Dowling, J.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

192

P.6.8 Late-onset spinal motor neuronopathy (LOSMoN) – Increasing number of patients, decreasing number of candidate genes

Penttilä, S., Jokela, M., Saukkonen, A.M., Toivanen, J., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

193

P.9.1 Clinical and histopathological features of nemaline myopathy

Karakaya, M., Talim, B., Kale, G., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

194

P.7.17 Effects of quadriceps muscle kinesiologic taping on gait and performance in children with Duchenne Muscular Dystrophy

Alemdaroglu, I., Harput, G., Karaduman, A.A., Ergun, N., Yýlmaz, O., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

195

P.12.7 Swallowing evaluation in Escobar syndrome : A case report

Serel, S., Demir, N., Karaduman, A.A., Kayýhan, H., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

196

P.13.10 Unexpected findings in array analysis with possible implications for dystrophinopathy

Ginjaar, I., Van Heusden, D., Dutch University Hospitals, C.G.C., Hoffer, M.J.V.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

197

P.12.2 Dominant distal myopathy due to slow channelopathy

Angelini, C., Vazza, G., Mostacciuolo, M.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

198

P.17.9 AAV9 vector encoding hGAA improves synaptic pathology of the neuromuscular junction in Pompe disease

Falk, D.J., Todd, A.G., Soustek, M.S., Cloutier, D.C., ElMallah, M., Fuller, D.D., Byrne, B.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

199

18th WMS Congress – 2013 – Program (Summary)

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 194 KB

english, 2013

200

P.13.8 MRI measures of bone in Duchenne muscular dystrophy

Finanger, E.L., Pollaro, J., Russman, B., Lott, D.J., Bryne, B.J., Finkel, R.S., Tennekoon, G.I., Forbes, S.C., Walter, G.A., Vanenborne, K., Rooney, W.D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

201

P.9.12 Exploring the pathological mechanism of Actin myopathies in zebrafish

Sztal, T., Zhao, M., Currie, P., Laing, N., Nowak, K., Bryson-Richardson, R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

202

Welcome to the World Muscle Society Congress in Asilomar

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 183 KB

english, 2013

203

P.5.8 Why is LGMD2G rare?

Almeida, C.F., Onofre-Oliveira, P.C.G., Zatz, M., Negrao, L., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

204

P.15.5 An unsual phenotype of late onset desminopathy

Palmio, J.M., Penttilä, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

205

P.14.11 Auto-immune necrotizing myopathies with anti-HMGCR antibodies are related to statin-exposure only for a minority of cases

Allenbach, Y., Rigolet, A., Drouot, L., Charuel, J.L., Jouen, F., Jouen, F., Maisonobe, T., Dubourg, O., Behin, A., Eymard, B., Laforet, P., Stojkovic, T., Konepaut, I., Konepaut, I., Cacoub, P., Kief

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

206

P.19.4 PDGF-BB is expressed by muscle fibers in myopathies and regulates growth and migration of satellite cells and pericytes

Díaz-Manera, J., Gallardo, E., Luna, N. De, Pastoret, A., Navas, M., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

207

P.11.2 Naproxcinod, a nitric oxide-donating anti-inflammatory compound, is effective in two mouse models of muscle dystrophy

Miglietta, D., Sciorati, C., De Palma, C., Ongini, E, Clementi, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

208

M.I.2 The matrix as a modifier for muscular dystrophy

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 110 KB

english, 2013

209

P.10.10 The Rasch-scaled motor function measure for patients with congenital disorders of muscle

Vuillerot, C., Rippert, P., Jain, M., Waite, M., Glanzman, A., Kinet, V., Auh, S., Berard, C., Payan, C.A.M., Hamroun, D., Poirot, I., Ecochard, R., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

210

P14.15 High prevalence of hepatitis C virus infection in a Japanese inclusion body myositis cohort

Uruha, A., Noguchi, S., Hayashi, Y.K., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

211

P.1.17 Immunostaining of the sarcolemma with a new monoclonal antibody against alpha-dystroglycan core and its relevance to diagnosis

Wilson, E., Lacey, E., Holt, I., Sciandra, F., Brancaccio, A., Hewitt, J.E., Kobayashi, K., Toda, T., Sewry, C.A., Brown, S.C., Morris, G.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 63 KB

english, 2013

212

P.15.9 An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum

Chan, S.H.S., Kan, A., Tse, H.F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

213

P.2.16 Cooperative International Neuromuscular Research Group (CINRG) study of echocardiographic outcome measures for use in clinical trials in muscular dystrophy

Clemens, P., Spurney, C., McCaffrey, F., Hache, L., Gordish-Dressman, H., Arrieta, A., Lasota, M., Connolly, A., McDonald, C., Lotze, T., Cnaan, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

214

P.16.4

Forbes, J., Genesini, T., Riolfi, C., Macedo, E., Rüdiger, D., Lise, L., Mouzat, A., Pavanello, R.C.M., Zatz, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

215

P.17.18 Contribution of muscle MRI and 13C nuclear magnetic resonance spectroscopy in McArdle disease

Semplicini, C., Carlier, R.Y., Stojkovic, T., Behin, A., Eymard, B., Wary, C., Carlier, P.G., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

216

P.20.13 Gene therapy of Duchenne Muscular Dystrophy using rAAV vectors: Exon skipping and microdystrophin approaches in GRMD dogs

Le Guiner, C., Montus, M., Servais, L., Cherel, Y., Hogrel, J.Y., Carlier, P., Masurier, C., Adjali, O., Mavilio, F., Dickson, G., Moullier, P., Voit, T., Consortium, AFM-Duchenne

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

217

P.3.12 Characterization of CAPN3-dependent proteolysis of C-terminal titin

Sarparanta, J., Charton, K., Luque, H., Jonson, P.H., Richard, I., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

218

P.18.6 Self-questionnaire is effective for screening of patients with myotonic dystrophy

Matsumura, T., Kimura, T., Kokunai, Y., Nakamori, M., Ogata, K., Fujimura, H., Takahashi, M.P., Mochizuki, H., Sakoda, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

219

M.I.1 Mechanism of laminin assembly: Insight for structural repairs of MDC1A

Yurchenco, P.D., Crosson, S., McKee, K.K., Ruegg, M.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 110 KB

english, 2013

220

P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl

Servais, L., Quijano-Roy, S., Seferian, A.M., Allamand, V., Baumann, C., Richard, P., Estournet, B., Carlier, R., Fardeau, M., Voit, T., Romero, N.B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

221

P.11.3 Long term treatment with naproxcinod significantly improves skeletal and cardiac function in mdx mouse model of dystrophy

Nagaraju, K., Uaesoontrachoon, K., Quinn, J., Tatem, K., Creeden, B., Vandermeulen, J., Yu, Q., Gordish, H., Ongini, E., Miglietta, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

222

P.2.10 A shorter timed walking or running test may be sufficient for testing function in Duchenne muscular dystrophy

Alfano, L.N., Lowes, L.P., Flanigan, K.M., Mendell, J.R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

223

P.17.1 Phenotypic variation within 22 families with Pompe disease

Wens, S.C.A., Van Gelder, C.M., Kruijshaar, M.E., De Vries, J.M., Van der Beek, N.A.M., Reuser, A.J.J., Van Doorn, P.A., Van der Ploeg, A.T., Brusse, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

224

P.19.3 Phenotypic characterization of the autosomal recessive (Pink-1 and DJ-1) gene knockout rat models of Parkinson’s disease

Ramboz, S., Silva, S. De, Stevenson, R., Osborne, M., Willms, M., Kudwa, A., Cirillo, C., Mushlin, R., Olsen, M., Bent, S., Ghavami, A., Sherer, T., Frasier, M., Dave, K.D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

225

P.12.11 Atypical paramyotonia congenita in a boy with a new mutation in the SCN4A gene

Wallace, S., Ørstavik, K., Torbergsen, T., Abicht, A., Rasmussen, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

226

P.21.10 Withdrawn

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

227

P.12.8 The results of aerobic exercise program in Escobar syndrome: A case report

Subasi, S., Alemdaroglu, I., Yilmaz, O., Karaduman, A.A., Kilic, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

228

P.17.4 Magnetic Resonance Imaging (MRI) to evaluate the effect of enzyme replacement therapy in Late Onset Pompe Disease (LOPD)

Corti, M., Baligand, C., Falk, L., Walter, G.A., Byrne, B.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

229

P.7.5 Sociodemographic and health related profile of adults with Duchenne/Becker Muscular Dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

Pandya, S., Kumar, A., James, K., Westfield, C., Ciafaloni, E., Cunniff, C., Romitti, P., Moxley, R.T., STARnet, N.Y. MD

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

230

P.18.12 Histological and magnetic resonance imaging findings of Vastus Lateralis in Myotonic Dystrophies: Do they match up?

Merkel, C.J., Wattjes, M.P., Reimann, J., Kornblum, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

231

Author index

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 206 KB

english, 2013

232

P.11.20 Results at 2years of a phase IIb extension study of the exon-skipping drug eteplirsen in patients with DMD

Mendell, J.R., Rodino-Klapac, L., Sahenk, Z., Roush, K., Bird, L., Lowes, L.P., Alfano, L., Gomez, A.M., Lewis, S., Malik, V., Shontz, K., Flanigan, K.M., Kean, J.R., Allen, H.D., Shilling, C., Sazani

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

233

O.16 Morphological and molecular heterogeneity in autoimmune necrotizing myopathies

Stenzel, W., Preusse, C., Pehl, D., Heppner, F.L., Weis, J., Claes, K., Rushing, E., Kana, V., Benveniste, O., Goebel, H.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

234

P.11.13 Phosphorothioate modification increases capability of dystrophin exon 45 skipping and reduces cytotoxicity of RNA/ENA chimera

Malueka, R.G., Dwianingsih, E.K., Yagi, M., Awano, H., Lee, T., Nishida, A., Takeshima, Y., Matsuo, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

235

P.16.10 Muscle MRI of scapular girdle in Facioscapulohumeral muscular dystrophy (FSHD)

Tasca, G., Monforte, M., Iannaccone, E., Masciullo, M., Laschena, F., Ottaviani, P., Ricci, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

236

O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)

Oates, E.C., Rosser, A.M., Hafezparast, M., Lek, M., Scoto, M., Greensmith, L., Auer-Grumbach, M., Schule, R., Herrmann, D.N., Clarke, N.F., MacArthur, D.G., Züchner, S., Muntoni, F., Reilly, M.M., No

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

237

P.10.5 The effect of the limitation of ankle joint’s movement on the walking performance in neuromuscular diseases

Kaya, P., Alemdaroglu, I., Yýlmaz, O., Karaduman, A.A., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

238

P.10.6 Reliability and validity of trunk assessment methods in neuromuscular disease

Parlak Demir, Y., Kilinc, M., Yildirim, S.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

239

P.10.18 Common data elements for muscle biopsy reporting

Dastgir, J., Rutkowski, A., Alvarez, R., Cossette, S., Yan, K., Hoffmann, R., Sewry, C., Hayashi, Y., Moore, S.A., Goebel, H., Bonnemann, C., Lawlor, M.W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

240

P.10.19 Net muscle volumetry using MRI and CT

Nakayama, T., Kuru, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

241

P.1.19 Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression

Kanagawa, M., Yu, C.C., Ito, C., Fukada, S.I., Hozoji-Inada, M., Chiyo, T., Miyagoe-Suzuki, Y., Kobayashi, K., Okada, T., Takeda, S.I., Toda, T.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

242

P.7.1 A prospective natural history study of the progression of physical impairment, activity limitation, and quality of life in Duchenne muscular dystrophy

Goemans, N., Mercuri, E., Morgan, A., Eagle, M., Lawrence, F., Wilson, R., Callendret, L., Campion, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

243

P.19.1 Sarcoplasmic reticulum alterations cause part of anti-dysferlin reactivity changes in neurogenic damage

Reimann, J., Kappes-Horn, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

244

P.17.15 Life-threatening lactic acidosis occurring in adults with rare mutations of mtDNA: About three cases

Laforêt, P., Pottier, C., Behin, A., Gilleron, M., Sharshar, T., Lombes, A., Jardel, C., Eymard, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

245

P.11.18 Design of a confirmatory phase 3, multicenter, randomized, double-blind, placebo-controlled study of ataluren in patients with nonsense mutation Duchenne muscular dystrophy

Barth, J., Reha, A., Spiegel, R., Elfring, G.L., Husain, M., Peltz, S.W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

246

P.10.21 Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders

Kesari, A., Punetha, J., Uapinyoying, P., Clarke, N., Waddell, L., North, K., Plotz, P., Tesi-Rocha, C., Bonnemann, C., Grosmann, C., Bertorini, T., Hoffman, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

247

O.3 Identification of novel dystroglycan-associated glycoprotein complexes in skeletal muscle

Johnson, E.K., Li, B., Yoon, J.H., Flanigan, K.M., Martin, P.T., Ervasti, J.M., Montanaro, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

248

P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy

Childers, M.K., Joubert, R., Poulard, K., Holder, M.N., Grange, R.W., Doering, J., Lawlor, M.W., Moal, C., Jamet, T., Danièle, N., Martin, C., Rivière, C., Poppante, K., Soker, T., Hammer, C., Van Wit

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

249

P.20.7 Longitudinal neuromuscular responses in mdx mice challenged with or without addition of forced exercise

Kudwa, A.E., Jimenez, Y., Gomez, D., Sanchez, A., Stevenson, R., Alosio, B., Mushlin, R., Cirillo, K.N., Ramboz, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 68 KB

english, 2013

250

P.17.2 Late onset Pompe disease with dilated cardiomyopathy

Kurashige, T., Shiroma, N., Motoda, A., Ikenaga, H., Oda, N., Takahashi, T., Kosuga, M., Kihara, Y., Arihiro, K., Matsumoto, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

251

P.11.12 Pulmonary function characteristics of boys with Duchenne muscular dystrophy: Data from the CINRG longitudinal study project

Abresch, R.T., McDonald, C.M., Henricson, E.K., Gustavo, N., Hu, F., Duong, T., Joyce, N., Mah, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

252

P.2.2 North Star ambulatory assessment in young DMD boys

De Sanctis, R., Bianco, F., Mazzone, E., Palermo, C., Sivo, S., Fanelli, L., Graziano, A., Pane, M., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

253

P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI

Castiglioni, C., Cassandrini, D., Fattori, F., Bellacchio, E., Alvarez, K., D’Amico, A., Gejman, R., Díaz, J., Santorelli, F.M., Bevilacqua, J.A., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

254

P.5.2 A comparison of muscle imaging in DYSF and ANO5 related muscular dystrophies

ten Dam, L., van der Kooi, A.J., Rövekamp, F., Linssen, W.H., de Visser, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

255

P.15.10 Megaconial myopathy presenting as a progressive limb-girdle myopathy

Behin, A., Laforêt, P., Malfatti, E., Pellegrini, N., Hayashi, Y., Carlier, R.Y., Orlikowski, D., DiMauro, S., Nishino, I., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

256

P.14.1 Dysregulation of innate immunity-related genes in Dermatomyositis

Suárez-Calvet, X., Gallardo, E., Nogales-Gadea, G., Navas, M., Querol, L., Diaz-Manera, J., Rojas-Garcia, R., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

257

O.8 Intrathecal delivery of AAV9 vectors to model and rescue a large animal model of SMA

Duque, S., Porensky, P., William, D.A., Odermatt, P., Nlend, R. Nlend, Bevan, A.K., Foust, K., Braun, L., Schmelzer, L., Schumperli, D., Kaspar, B.K., Burghes, A.H.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

258

P.17.8 The co-formulation of pharmacological chaperone AT2220 with recombinant human acid alpha-glucosidase improves enzyme uptake and glycogen reduction in a mouse model of Pompe disease

Khanna, R., Xu, S., Pellegrino, L., Lun, Y., Soska, R., Feng, J., Frascella, M., Garcia, A., Flanagan, J., Lockhart, D.J., Valenzano, K.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

259

P20.4 Antithetic role of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy

Zanotti, S., Gibertini, S., Savadori, P., Curcio, M., Mantegazza, R., Morandi, L., Mora, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

260

P.7.7 Health care services received by patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

Pandya, S., Campbell, K., Andrews, J., Meaney, F.J., Cunniff, C., Romitti, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

261

P.10.8 Comparison of the static and dynamic balance in different neuromuscular diseases

Kaya, P., Alemdaroglu, I., Yýlmaz, O., Karaduman, A.A., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

262

P.13.7 Elevated muscle metabolites in Becker muscular dystrophy detected by MR spectroscopy

Hooijmans, M.T., Wokke, B.H.A., van den Bergen, J.C., Aartsma-Rus, A.A., Niks, E.H., Webb, A.G., Verschuuren, J.J.G., Kan, H.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

263

P.1.16 Sarcospan amelioration of muscular dystrophy restores laminin binding and is dependent on α7β1 integrin and utrophin

Marshall, J.M., Oh, J., Chou, E., Lee, J., Allan, K., Holmberg, J., Burkin, D.J., Crosbie-Watson, R.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

264

P.10.7 The effects of trunk stabilization exercise and kinesiotaping application on patients with muscular disease: A pilot study

Demirci, C.S., Yildirim, S.A., Baltaci, G., Kilinc, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

265

P.5.9 Clinical and molecular analysis of a large cohort of patients with anoctaminopathy

Sarkozy, A., Hicks, D., Hudson, J., Laval, S.H., Barresi, R., Guglieri, M., Harris, E., Straub, V., Bushby, K., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

266

P.11.9 Analyses of 70 patients with Duchenne muscular dystrophy receiving intermittent intravenous combined with oral glucocorticoid therapy

Jing, H., Keyou, H., Qi, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

267

P.11.14 Phase 1b single and multiple ascending dose study to evaluate the safety, tolerability and pharmacokinetics of HT-100 in DMD

Escolar, D.M., Davis-Golden, J., Loewy, J., Bush, E., Dykstra, K., Blaustein, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

268

P.17.12 POLG mitochondrial myopathy presenting as a limb girdle syndrome

Jablecki, C.K., Zolkipli, Z., Du, A., Xu, C., Le, T., Haas, R.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

269

P.7.8 The national Dutch dystrophinopathy patient registry

Bergen van den, J.C., Koeks, Z., Straathof, C.S.M., Ginjaar, H.B., Groot, I., Kooi van der, A., Fock, A., Pangalila, R., Tol van der, M., Faber, C., Wolf, N., Coo, I., Hendriksen, J., Vroom, E., Horem

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

270

P.9.5 A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy

Agrawal, P.B., Joshi, M., Marinakis, N., Ciarlini, P.D., Schmitz-Abe, K., Markianos, K., De Girolami, U., Beggs, A.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

271

P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity

Evila, A., Vihola, A., Sarparanta, J., Raheem, O., Sandell, S., Eymard, B., Illa, I., Rojas-Garcia, R., Hankiewicz, K., Negrao, L., Lopponen, T., Nokelainen, P., Karppa, M., Penttila, S., Screen, M.,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

272

P.2.17 Hypertrophic cardiomyopathy in a patient with Duchenne muscular dystrophy

Cripe, L., Hor, K., Taylor, M., Goldberg, P., Garrison, A., Spicer, R., Kinnett, K., Markham, L., Ware, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

273

P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy

Mayhew, J.E., Skrinar, A.M., Bronstein, F., Esposito, A., Feinsod-Meiri, Y., Florence, J., Fowler, E., Greenberg, M., Malkus, E., Rebibo, O., Siener, C., Caraco, Y., Kolodny, E., Lau, H., Pestronk, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

274

P.2.12 The Duchenne brain: A matter of grey and white

Doorenweerd, N., Straathof, C.S.M., Dumas, E.M., Niks, E.H., Schrans, D.G.M., Wokke, B.H.A., van den Bergen, J.C., Webb, A.G., van Buchem, M.A., Hendriksen, J.G.M., Verschuuren, J.J.G., Kan, H.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

275

P.1.8 Genetic ablation of p66Shc rescues functional and morphological abnormalities in collagen VI dystrophic mice

Menazza, S., Carpi, A., Pignataro, V., Blaauw, B., Bonaldo, P., Giorgio, M., Lisa, F. Di, Canton, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

276

P.7.16 One year outcome assessment of young boys with DMD using the Bayley-III Scales of Infant and Toddler Development

Connolly, A.M., Florence, J.M., Cradock, M.M., Malkus, E.C., Schierbecker, J.R., Siener, C.A., Wulf, C.O., Anand, P., Golumbek, P.T., Zaidman, C.M., Lowes, L.P., Alfano, L.N., Viollet-Callendret, L.,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

277

P.15.7 A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure

Pfeffer, G., Barresi, R., Wilson, I.J., Hardy, S.A., Griffin, H., Hudson, J., Elliott, H.R., Ramesh, A.V., Radunovic, A., Winer, J., Vaidya, S., Raman, A., Busby, M., Farrugia, M.E., Ming, A., Everett

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

278

P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders

Dastgir, J., Vuillerot, C., Harrison, K., Poon, A., Donkervoort, S., Leach, M., Jain, M., Meilleur, K., Rutkowski, A., Mankodi, A., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

279

P.7.4 Quality of life of adult patients with Duchenne muscular dystrophy

Kobayashi, M., Obara, K., Abe, E., Wada, C., Toyoshima, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

280

O.19 Specification of muscle stem cells : A genome-wide screen to identify new regulators of skeletal muscle satellite cell renewal

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

281

P.14.3 Dermatomyositis in a patient with Behcet’s disease

Karasoy, H., Ekmekçi, O., Yuceyar, A.N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

282

P.16.11 Upper extremity reachable workspace evaluation in FSHD using Kinect

Han, J.J., Kurillo, G., Nicorici, A., Johnson, L.B., Abresch, R.T., Henricson, E.K., McDonald, C.M., Bajcsy, R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

283

P.21.2 New insights into eosinophilic fasciitis

Pehl, D., Preusse, C., Rinnenthal, J.L., Schneider, U., Goebel, H.H., Heppner, F.L., Alten, R., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

284

P.14.6 Evidence for a direct role of anti-signal recognition particle antibodies in the pathogenesis of necrotizing myopathies

Bloch Queyrat, C., Drouot, L., Arouche, L., Browne, G. Butler, Boyer, O., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

285

P17.19 Deoxypyrimidine monophosphates treatment for thymidine kinase 2 deficiency

Garone, C., Garcia-Diaz, B., Emmanuele, V., Tadesse, S., Akman, H.O., Tanji, K., Quinzii, C.M., Hirano, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 51 KB

english, 2013

286

P.9.16 The cause of developmental myopathy due to the embryonic myosin heavy chain Thr178Ile mutation

Pokrzywa, M., Ghobadpour, M., Abdul-Hussein, S., Moslemi, A.R., Tajsharghi, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

287

P.3.4 In vivo GNE interactions

Argov, Z., Harazi, A., Becker Cohen, M., Hinderlich, S., Mitrani Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

288

O.12 Peptide-enhanced uptake and bioactivity of antisense oligonucleotides in muscle and heart of DMD and DM1 mouse models

Aguilera, B., Mulders, S.A.M., Winter, C. Tanganyika-de, van den Broek, W.J.A., Muilwijk, D., Heemskerk, H., Sirka, S.M.G., de Visser, P.C., Wansink, D.G., Aartsma-Rus, A., van Deutekom, J.C.T.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

289

P.14.13 Involvement of optineurin as well as TDP-43 in the pathogenesis of inclusion body myositis

Yamashita, S., Tawara, N., Kawakami, K., Nishikami, T., Maeda, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

290

P.1.6 Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

Torabi Farsani, G., Hicks, D., laval, S., Salih, M., Seidhamed, M.Z., Cossins, J., Beeson, D., Straub, V., Lochmüller, H., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

291

P.21.7 Rippling muscle disease associated with myasthenia gravis: A case report

Lusakowska, A., Gawel, M., Kaminska, A.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

292

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 54 KB

english, 2013

293

P.9.4

Hayashi, Y.K., Goto, K., Noguchi, S., Matsumoto, N., Laing, N., North, K., Clark, N., Nonaka, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

294

P.15.2 Elucidating the mechanism of disease in BAG3 related myofibrillar myopathy

Ruparelia, A.A., Bryson-Richardson, R.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

295

P.7.10 Territory wide study of patients with dystrophinopathy in Hong Kong

Chan, S.H.S., Lo, I.F.M., Cherk, S., Cheng, W.W.S., Fung, E., Yeung, W.L., Lee, W.C., Wong, S., Ma, C.K.L., Tai, S.M., Yau, M.M., Ng, G., Wu, S.P., Wong, C.V.N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

296

P.9.6 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

Malfatti, E., Schaeffer, U., Chapon, F., Yang, Y., Eymard, B., Xu, R., Laporte, J., Romero, N.B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

297

P.14.5 Antibodies against TIF1-gamma in cancer associated myositis may precede cancer symptoms and persist after cancer removal

Lundberg, I.E., Dani, L., Dastmalchi, M., Martínez, M.A., Labrador-Horrillo, M., O’Callaghan, A. Selva

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

298

P.20.15 Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne muscular dystrophy

Anthony, K., Ricotti, V., Guglieri, M., Servais, L., Voit, T., Bushby, K., Straub, V., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

299

P.8.8 Basement membrane deposition during muscle development in the FKRP Deficient Mouse

Kim, J., Fuente-Fernandez, M., Kavishwar, M., Brown, S.C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

300

O.11 Personalized therapy in Duchenne muscular dystrophy: An integrated approach

Campion, G., Voit, T., Levin, A.A., Vroom, E., Furlong, P., Morgan, A., de Kimpe, S., Holslag, R., Bell, L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

301

P.20.12 Gene therapy of Duchenne Muscular Dystrophy using rAAV vectors: Patterns of dystrophin expression and histological improvements

Cherel, Y., Guiner, C. Le, Guigand, L., Dutilleul, M., Larcher, T., Goubin, H., Fraysse, B., Deschamps, J.Y., Montus, M., Servais, L., Voit, T., Moullier, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 54 KB

english, 2013

302

P.1.4 Gene expression profile of collagen VI deficient human fibroblasts

Casserras, T., Kalko, S.G., Paco, S., Jou, C., Nascimento, A., Ortez, C., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

303

P.20.3 Targeting fibrosis and inflammation in Duchenne Muscular Dystrophy

Preusse, C., Goebel, H.H., Moers, A. von, Heppner, F.L., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

304

O.23 A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without features of myofibrillar myopathy

Cetin, N., Balci-Hayta, B., Gundesli, H., Korkusuz, P., Purali, N., Talim, B., Tan, E., Selcen, D., Erdem-Ozdamar, S., Dincer, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

305

P.2.3 Assessment of Upper Limb function in DMD patients: Comparison with normative data

Mazzone, E., Pane, M., Fanelli, L., De Sanctis, R., Bianco, F., Sivo, S., D’Amico, A., Messina, S., Politano, L., Battini, R., Frosini, S., Pedemonte, M., Boffi, P., Pegoraro, E., Berardinelli, A.L.,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

306

P.4.4 BIN1 deficiency in zebrafish results in centronuclear myopathy

Smith, L.L., Gupta, V.A., Beggs, A.H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

307

P.16.8 Does endurance training and protein supplementation improve fitness in patients with Facioscapulohumeral Muscle Dystrophy (FSHD)?

Andersen, G., Prahm, K.P., Dahlquist, J., Citirak, G., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

308

P.12.9 Electrophysiological characterization of novel CLCN1 mutations found in Korean patients with myotonia congenita

Shin, J.H., Park, Y.E., Ha, K., So, I.S., Kim, D.S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

309

P.13.11 Proteomic analysis of cardiomyopathic tissue from the aged mdx model of Duchenne muscular dystrophy

Holland, A., Ohlendieck, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

310

P.11.17 Optimization of preclinical antisense oligonucleotide development for Duchenne muscular dystrophy

Kolfschoten, I.G.M., Janson, A.A.M., den Eijnde, R.E.Y.van, Bijl, S., Zonneveld-Mulder, M.H.C., de Visser, P.C., Deutekom, J.C.T.van

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

311

P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

Nevo, Y., Ben-Zeev, B., Tabib, A., Straussberg, R., Anikster, Y., Shorer, Z., Fattal-Valevski, A., Ta-Shma, A., Aharoni, S., Rabie, M., Zenvrit, S., Goldshmidt, H., Felig, Y., Shaag, A., Mevorach, D.,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

312

P.6.3 Effects of trunk support in sitting position on upper extremity endurance and performance: A case report of Spinal Muscular Atrophy Type 2

Subasi, S., Yilmaz, O.T., Karaduman, A.A., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

313

P9.17 Function of CCDC78 in muscle development and muscle disease

Davidson, A., Li, X., Dowling, J.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

314

P.6.2 Development of a proof-of-concept device using the Microsoft Kinect to assess movement in infants with spinal muscular atrophy

Lowes, L.P., Alfano, L.N., Ray, W., Wolock, S., Flanigan, K.M., Mendell, J.R., Kaspar, B.K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

315

P.11.15 Recombinant human insulin-like growth factor-I (IGF-I) therapy in Duchenne Muscular Dystrophy (DMD): A 6-month prospective randomized controlled trial

Rutter, M.M., Collins, J., Backeljauw, P.F., Horn, P., Taylor, M.D., Hu, S.Y., Blum, S., Morehart, P., Sawnani, H., Wong, B.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 49 KB

english, 2013

316

P.7.3 The adult Duchenne Muscular Dystrophy (DMD) patient: Report of current status and functional issues

Hsu, J., Wong, M., Sarino, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

317

P.10.1 The Turkish version of Rasch built ACTIVLIM questionnaire for Neuromuscular diseases

Kilinc, M., Oksuz, C., Oztuna, D., Alemdaroglu, I., Demirci, C., Yildirim, S.A., Yilmaz, O.T.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

318

P.11.4 Altered mechano-transduction in dystrophic muscle is accompanied by changes in function and expression of ClC-1 chloride channel

Camerino, G.M., Capogrosso, R.F., Cannone, M., Cozzoli, A., De Luca, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

319

P.18.3 Test–retest reliability of strength measurements of the long finger flexors (LFF) in patients with myotonic dystrophy type 1

Eichinger, K., Dilek, N., Dekdebrun, J., Martens, W., Heatwole, C., Thornton, C.A., Moxley, R.T., Pandya, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

320

O.13 Using out-of-frame exon skipping to induce IRES-driven expression of an N-truncated dystrophin isoform for 5’ DMD mutations

Wein, N., Vulin, A., Falzarano, M.S., Szigyarto, A., Findlay, A., Vattemi, G., Perrone, D., Gualandi, F., Howard, M.T., Flanigan, K.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

321

P.20.8 AAV genome loss from dystrophic mouse muscles during AAV-U7snRNA-mediated exon skipping therapy

Hir, M. Le, Goyenvalle, A., Peccate, C., Précigout, G., Davies, K.E., Voit, T., Garcia, L., Lorain, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

322

P.2.4 Upper extremity reachable workspace evaluation in DMD using Kinect

Kurillo, G., Han, J.J., Nicorici, A., Johnson, L.B., Abresch, R.T., Henricson, E.K., McDonald, C.M., Bajcsy, R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

323

P.21.8 Long-term follow up of a cohort of 62 newly diagnosed patients with a subacute-onset idiopathic inflammatory myopathy

de Visser, M., van de Vlekkert, J., Hoogendijk, J.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

324

I.I.3 Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: Which came first, the chicken or the egg?

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

325

P.19.2 Targeting the Huntingtin gene with splice-switching AOs: An unusual result

Barrett, L., Fletcher, S., Wilton, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

326

O.7 Spinal muscular atrophy: How it works and therapeutic targets

Burghes, A., McGovern, V., Porensky, P., Arnold, D., Laporte, A., Foust, K., Mitrpant, C., Le, T., Wilton, S., Kaspar, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

327

P.15.11 Megaconial congenital muscular dystrophy in two children with mutations in the CHKB Gene

Nascimento, A., Jou, C., Ortez, C., Hayashi, Y.K., Nishino, I., Olivé, M., Ferrer, I., Colomer, J., Paco, S., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

328

P.12.10 Exome sequencing analysis reveals a mutation of Kir3.4 in a patient with Andersen–Tawil syndrome

Kokunai, Y., Nakamori, M., Kubota, T., Mochizuki, H., Takahashi, M.P., Nakata, T., Ohno, K., Sakata, S., Okamura, Y., Kimura, H., Itoh, H., Horie, M., Osaki, Y., Shindo, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

329

P.1.5 Gene expression profiling identifies molecular pathways associated with collagen VI deficiency

Paco, S., Kalko, S.G., Jou, C., Rodriguez, M.A., Cusi, V., Corbera, J., Torner, F., Muntoni, F., Feng, L., Rivas, E., Nascimento, A., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

330

P.5.4 Clinical outcome measures for dysferlinopathy: An exploration of reliability and suitability of novel functional rating scales

Eagle, M., Mayhew, A.G., Bettinson, K., James, M.K., Von Rekowski, B., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

331

P.4.7 The natural history of myotubular myopathy, summary of the first year of enrollment

Amburgey, K., Julian, D., Howell, E., Britt, M., Dowling, J.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

332

P.10.4 The analysis of the factors associated with quality of life in patients with Neuromuscular diseases

Ayvat, E., Kilinc, M., Iyigun, G., Yildirim, S.A., Ozdamar, S.E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

333

P.12.6 Congenital myasthenic syndromes: Diagnosis difficulties, course and prognosis, and therapy – The French CMS network experience

Eymard, B., Stojkovic, T., Sternberg, D., Richard, P., Nicol, S., Fournier, E., Behin, A., Laforêt, P., Servais, L., Romero, N., Fardeau, M., Hantaï, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

334

P.18.1 The DM-Scope registry: Interfacing myotonic dystrophy clinical care and research

Dogan, C., Hamroun, D., Katsahian, S., Fabbro, M., French, M., Quebec, M., Eymard, B., Puymirat, J., Bassez, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

335

P.8.11 Glatiramer acetate improved motor conduction velocity in dy2J/dy2J mouse peripheral neuropathy

Yanay, N., Nevo, Y., Felig, Y., Elbaz, M., Gelb, S., Mitrani-Rosenbaum, S., Rabie, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

336

P.11.19 Phase 2b, dose-ranging study of ataluren (PTC124®) innonsense mutation Duchenne muscular dystrophy – results of a post hoc analysis of change in %-predicted 6-min walk distance

McDonald, C.M., Henricson, E.K., Abresch, R.T., Elfring, G.L., Barth, J., Peltz, S.W., Reha, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

337

P.14.10 Respiratory failure as presenting symptom of paraneoplastic necrotizing autoimmune myopathy

Jaeger, B., de Visser, M., Aronica, E., van der Kooi, A.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

338

P.2.19 Long term growth hormone therapy in Duchenne Muscular Dystrophy (DMD): A case report

Lee, H.N., Rose, S.R., Rutter, M.M., Sawnani, H., Ryan, T., Rybalsky, I., Wong, B.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

339

P.13.6 Nuclear Magnetic Resonance imaging and spectroscopy provide quantitative indices of disease severity in forearms of boys with Duchenne Muscle Dystrophy

Wary, C., Azzabou, N., Zehrouni, K., Giraudeau, C., Le Louër, J., Voit, T., Servais, L., Carlier, P.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

340

O.18 Systematic identification of causal mutations in Mendelian disorders using exome sequence data

Lek, M., Clarke, N.F., Waddell, L., Thomas, B., DePristo, M., Daly, M.J., North, K.N., MacArthur, D.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

341

P.20.9 Muscle fibrosis in the sgcb-null mouse model versus the mdx model

Gibertini, S., Zanotti, S., Curcio, M., Savadori, P., Mora, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

342

P.15.6 Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis

Maerkens, A., Sarkozy, A., Barresi, R., Evangelista, T., Bushby, K., Marcus, K., Vorgerd, M., Lochmüller, H., Kley, R.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

343

P.10.22 Powerful mouse resource for determining modifier genes for neuromuscular diseases

Boutilier, J.K., Ma, J., Ram, R., McNamara, E., Laing, N.G., Morahan, G.E., Nowak, K.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

344

P.2.9 The 6-min walk test and other endpoints in Duchenne MD: Multi center longitudinal natural history observations over 48weeks

McDonald, C.M., Henricson, E.K., Abresch, R.T., Florence, J.M., Eagle, M., Gappmaier, E., Glanzman, A., Spiegel, R., Barth, J., Elfring, G., Reha, A., Peltz, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

345

O.14 Optimization and evaluation of new read-through compounds (RTCs) for the treatment of Duchenne Muscular Dystrophy (DMD)

Gintjee, T., Kayali, R., Magh, A., Bertoni, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

346

P.19.9 Gαi2 signaling is required for skeletal muscle regeneration and for satellite cell differentiation

Minetti, G.C., Feige, J.N., Bombard, F., Birnbaumer, L., Glass, D.J., Fornaro, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

347

P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency

Stojkovic, T., Nelson, I., Nectoux, J., Cossee, M., Allamand, V., Gartioux, C., Yaou, R. Ben, Ferreiro, A., Richard, P., Carlier, P.Y., Carlier, P., Dupont, S., Lehéricy, S., Eymard, B., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

348

P21.11 Muscle weakness and atrophy as initial symptoms of acquired immunodeficiency syndrome (AIDS): A case report

Keyou, H., Jing, H., Hongrui, S.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

349

P.2.18 Bone mineral density and bone mineral content as measures of bone health in ambulatory boys with Duchenne Muscular Dystrophy

Tian, C., Rutter, M., Hornung, L., Khoury, J., Miller, L., Bange, J., Wong, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

350

I.I.1 Myopathologic classification of acquired immune and inflammatory myopathies

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

351

P.5.5 Clinical and genetic characterization of a cohort of 30 Chilean patients with dysferlinopathy

Bevilacqua, J.A., Castiglioni, C., Di Capua, G.A., Woudt, L., Díaz, J., Velásquez, B., Hughes, R., Campero, M., González-Hormazábal, P., Godoy-Herrera, R., Levy, N., Krahn, M., Jara, L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

352

P.8.9 Progressive muscular dystrophy in a mouse model of FKRP deficiency

Fernandez-Fuente, M., Whitmore, C., Kim, J., Parr, C., Brown, S.C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

353

P.5.14 The co-chaperone DNAJB6 – mutated in LGMD1D – and its role in handling of aggregation-prone muscle proteins

Jonson, P.H., Sarparanta, J., Luque, H., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

354

O.22 Autosomal dominant Core Congenital Myopathy caused by a mutation in the MYH7 gene

Romero, N.B., Xie, T., Malfatti, E., Schaeffer, U., Fardeau, M., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

355

P.14.17 Evaluation of the ability of timed walking tests to quantify function in sporadic inclusion body myositis

Alfano, L.N., Lowes, L.P., Dvorchik, I., Yin, H., Maus, E.G., Flanigan, K.M., Mendell, J.R.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

356

P.13.5 Magnetic resonance imaging and spectroscopy detect changes with age, corticosteroid treatment, and functional progression in DMD

Willcocks, R.J., Forbes, S.C., Finanger, E.L., Russman, B.S., Lott, D.J., Senesac, C.R., Triplett, W.T., Arpan, I., Daniels, M.J., Byrne, B.J., Finkel, R.S., Tennekoon, G.I., Rooney, W.D., Walter, G.A

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

357

P.15.1 Evaluation of pathogenicity of a novel BAG3 mutation by using transgenic medaka

Ohisa, S., Hayashi, K.Y., Sato, T., Noguchi, S., Nonaka, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

358

P.7.11 The clinic services resource survey on Duchenne Connect

Martin, A.S., Peay, H.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

359

P.4.9 Variable clinical and histological features in severe congenital RYR1 associated myopathy

Santi, M., Medne, L., Bharucha-Goebel, D., Bonnemann, C., Dastgir, J., Zukosky, K., Shieh, P., Winder, T., Tennekoon, G., Finkel, R., Dowling, J., Monnier, N.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

360

P.4.1 PIP kinases, muscle development, and the pathogenesis of myotubular myopathy

Reifler, A., Michele, D., Archambeau, A., Li, X., Dowling, J.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

361

P.5.1 Sarcolemmal repair and reorganization of microtubule

Matsuda, C., Miyake, K., Imamura, T., Araki, N., Nishino, I., Hayashi, Y.K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

362

P.1.9 Repeated cardiotoxin treatment progresses muscle phenotype in Collagen VI deficient mice

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

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

363

P.2.1 The NorthStar Ambulatory Assessment in Duchenne Muscular Dystrophy: Considerations for the design of clinical trials

Ricotti, V., Ridout, D.A., Mercuri, E., Quinlivan, R., Robb, S.A., Manzur, A.Y., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

364

P.2.7 6min walk test 12month changes in DMD: Correlation with genotype

Pane, M., Mazzone, E., Sormani, M.P., Scalise, R., Berardinelli, A., Messina, S., Torrente, Y., D’Amico, A., Doglio, L., Viggiano, E., D’Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., De Sanctis

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

365

P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence

Skrinar, A.M., Argov, Z., Caraco, Y., Kolodny, E., Lau, H., Pestronk, A., Shieh, P., Bronstein, F., Esposito, A., Feinsod-Meiri, Y., Florence, J., Fowler, E., Greenberg, M., Malkus, E., Rebibo, O., Si

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

366

P.5.15 Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

Claeys, K.G., Gorodinskaya, O., Handt, S., Kress, W., Kornblum, C., Reimann, J., Kuhl, C., Schulz, J.B., Weis, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

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