Volume 22; Issue 9-10

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Neuromuscular Disorders
Volume 22; Issue 9-10

Neuromuscular Disorders

Volume 22; Issue 9-10

1

Welcome to the World Muscle Society Congress in Perth

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 94 KB

english, 2012

2

D.I.1 Novel Neuromuscular Diseases

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 106 KB

english, 2012

3

D.I.2 Gene by gene sequencing to whole genome analysis: A perspective on neuromuscular disorders

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 106 KB

english, 2012

4

D.I.3 Ethical implications of unexpected results from next generation sequencing studies

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 125 KB

english, 2012

5

D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes

Willer, T., Lee, H., Lommel, M., Yoshida-Moriguchi, T., Beltran Valero de Bernabe, D., Venzke, D., Cirak, S., Schachter, H., Vajsar, J., Voit, T., Muntoni, F., Strahl, S., Mathews, K.D., Nelson, S.F.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

6

D.O.1 A two-tiered approach to newborn screening for Duchenne muscular dystrophy (DMD) using dried blood spots for sequential CK and DNA analysis

Mendell, J.R., Shilling, C., Leslie, N.D., Flanigan, K.M., al-Dahhak, R., Gastier-Foster, J., Kneile, K., Dunn, D.M., Duval, B., Aoyagi, A., Hamil, C., Mahmoud, M., Roush, K., Bird, L., Chandrasekar,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

7

D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

Howell, K.B., Forbes, R., Burgess, T., O’Reilly, D., DuSart, D., Chong, B., Clarke, N., McLean, C.A., Leventer, R.J., Laing, N.G., Wilton, S.D., Ryan, M.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

8

D.O.3 Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies

Savarese, M., Torella, A., Mutarelli, M., Dionisi, M., Giugliano, T., Di Fruscio, G., Iacomino, M., Garofalo, A., Aurino, S., Del Vecchio Blanco, F., Piluso, G., Politano, L., Fanin, M., Angelini, C.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

9

D.O.4 Next generation sequencing for genetic diagnosis and gene identification in myopathies

Bohm, J., Vasli, N., Schaffer, U., Gras, S. Le, Jost, B., Romero, N.B., Levy, N., Malfatti, E., Biancalana, V., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

10

D.O.5 A combination of linkage analysis and exome sequencing identifies a new gene for X-linked Charcot–Marie–Tooth neuropathy

Kennerson, M., Yiu, E., Chuang, D., Tso, S., Ly, C., Kidambi, A., Ryan, M., Nicholson, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

11

D.O.6 Quantification of inflammation, necrosis or damages by NMR imaging in fatty infiltrated muscles: A practical approach

Carlier, P.G., Azzabou, N., Loureiro de Sousa, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

12

D.P.1 Next-generation sequencing approach for muscular dystrophy diagnosis: Advantages and pitfalls of new diagnostic technology

Tesi Rocha, C., Kesari, A., Punetha, J., Bonnemann, C., Hoffman, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

13

D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders

Nelson, I., Allamand, V., Ben Yaou, R., Baulande, S., Criqui, A., De Cid Ibeas, R., Richard, I., Richard, P., Voit, T., Lévy, N., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

14

D.P.3 Ethical, social, legal implications of clinical and research genetic testing in the neuromuscular setting: A case study approach

Donkervoort, S., Medne, L., Schindler, A., Pappa, M.B., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

15

D.P.4 Comparison of commercially-available exome capture kits in the diagnosis of neuromuscular disorders

Flanigan, K.M., Gastier-Foster, J., Pyatt, R., Rosales, X.Q., Thrush, D.L., Kneile, K., Mendell, J.R., Kelly, B., Newsom, D., Hu, P., White, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

16

D.P.5 Whole exome sequencing applied to Charcot–Marie–Tooth (CMT) disease

Ong, R.W., Lamont, P.J., Yau, K.S., Kresoje, N., Davis, M.R., Allcock, R.J., Laing, N.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

17

D.P.6 Whole exome sequencing applied to foetal akinesia

Ravenscroft, G., Todd, E., Yau, K.S., Kresoje, N., Sivadorai, P., Sollis, E., Friend, K., Riley, K., Thompson, E., Manton, N., Blumbergs, P., Kiraly-Borri, C., Haliloglu, G., Orhan, D., Kale, G., Char

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

18

D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies

Neri, M., Bovolenta, M., Scotton, C., Castrignanò, T., Vattemi, G.A.G., Schwartz, E., Daraselia, N., Kotelnikova, E., Gualandi, F., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

19

D.P.8 Expanding the clinical and genetic phenotype of TPM2-related myopathies

Dowling, J.J., Davidson, A.E., Lopez, M.E., Siddiqui, F.M., Lunt, P., Li, J.Z., Jungbluth, H., Love, S., Moore, S.A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

20

D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia

Neri, M., Bovolenta, M., Scotton, C., De Grandis, D., Castrignanò, T., Dallapiccola, B., Gualandi, F., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

21

D.P.10 Whole-genome analysis in Korean patients with autoimmune myasthenia gravis

Na, S.-J., Lee, J.H., Park, H.J., Sohn, E.H., Kim, D.S., Park, Y.E., Shim, D.S., Choi, Y.-C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

22

D.P.11 Dual pathology identified by next generation sequencing in siblings with peripheral neuropathy, ataxia and retinal dystrophy

Kingston, H., Urquhart, J., O’Sullivan, J., Hughes, M.I., Black, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

23

D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers

Brioschi, S., Bovolenta, M., Neri, M., Scotton, C., Castrignanò, T., Pesole, G., Bertini, E., Dallapiccola, B., Kotelnikova, E., Gualandi, F., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

24

D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy

Kiiski, K., Lehtokari, V.L., Laari, L., Lunkka-Hytönen, M., Angelini, C., Petty, R., Hackman, P., Udd, B., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

25

D.P.14 Mining modifier genes for skeletal muscle actin diseases

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 69 KB

english, 2012

26

G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies

Stevens, E., Carss, K., Cirak, S., Torelli, S., Foley, A.R., Sewry, C., Topaloglu, H., Haliloglu, G., Stemple, D., Hurles, M., Lin, Y.Y., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

27

G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

Cirak, S., Foley, R.A., Herrmann, R., Willer, T., Elisabeth, S., Yau, M., Brodd, L., Torelli, S., Kamynina, A., Vondracek, P., Roper, H., Longman, C., Korinthenberg, R., Marrosu, G., Nurnberg, P., Pla

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

28

G.P.3 Modeling congenital muscle diseases in zebrafish

Gupta, V., Gundry, S.R., Bass, J., Chen, A.T., Zhou, Y., Zon, L.I., Beggs, A.H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

29

G.P.4 A comparison of the structural brain defects in dystroglycanopathy mouse models

Booler, H., Whitmore, C., Fernandez-Fuente, M., Brown, S.C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

30

G.P.5 Over expression of the LARGE transgene exacerbates muscle pathology in the mdx mouse

Wells, K.E., Muses, S., Ruberg, A., Terry, R., Shihab, N., Wells, D.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

31

G.P.6 Assessing the long term expression of LARGE as a potential therapy in a mouse model of LGMD2I

Whitmore, C., Booler, H., Parr, C., Ackroyd, M., Fernandez-Fuente, M., Muntoni, F., Wells, D., Brown, S.C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

32

G.P.7 Effects of overexpression of LARGE on a mouse model of congenital muscular dystrophy

Saito, F., Hagiwara, H., Ikeda, M., Masaki, T., Shimizu, T., Matsumura, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

33

G.P.9 Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish

Wood, A., Cumine, A.P., Müller, J., Laval, S.H., Bushby, K., Lochmüller, H., Barresi, R., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

34

G.P.10 Basement membrane deposition in the skeletal muscle of the FKRP knock-down mouse

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

35

G.P.11 Fukutin-related protein (FKRP) is involved in the post-phosphoryl modification of α-dystroglycan

Kuga, A., Kanagawa, M., Sudo, A., Chan, Y.M., Tajiri, M., Manya, H., Kobayashi, K., Endo, T., Lu, Q.L., Wada, Y., Toda, T.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

36

G.P.12 Eye abnormalities in children with congenital muscular dystrophy due to mutations in FKRP

Kava, M.P., Ray, P., Chitayat, D., McAdam, L., Blaser, S., Vajsar, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

37

G.P.13 Merosin-deficient congenital muscular dystrophy: A case with immunohistochemical analysis

Suh, G.I., Park, H.J., Jeong, J., Choi, Y.C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

38

G.P.14 Scoliosis in Fukuyama congenital muscular dystrophy (FCMD) patients

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

39

G.P.27 Muscle atrophy in the GNE myopathy mouse model is associated with oxidative stress

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

40

G.P.28 GNE interactions and interactors

Harazi, A., Zer, H., Cohen, M. Becker, Hinderlich, S., Mitrani-Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

41

G.P.29 Results from a pilot study of muscle strength and function in adults with Hereditary Inclusion Body Myopathy (HIBM)

Skrinar, A.M., Mayhew, J.E., Maurer, M.L., Kakkis, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

42

G.P.30 Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Mori-Yoshimura, M., Oya, Y., Noguchi, S., Hayashi, Y.K., Nishino, I., Murata, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

43

G.P.31 MYH7 gene mutation related myopathies of skeletal and cardiac muscle

Dastgir, J., Donkervoort, S., Meilleur, K., Wheeler, P., Laing, N.G., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

44

G.P.32 Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene

Sarkozy, A., Polvikoski, T., Eagle, M., Lochmüller, H., Bushby, K., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

45

G.P.33 Protein turnover mechanisms in M-band titinopathies

Sarparanta, J., Jonson, P.H., Vihola, A., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

46

G.P.34 Gene expression profiling in tibial muscular dystrophy reveals new involved molecular pathways

Screen, M.A., Jonson, P.H., Raheem, O., Huovinen, S., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

47

G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations

Palmio, J.M., Evilä, A., Kärppä, M., Tasca, G., Quinlivan, R., Xiang, F., Edström, L., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

48

G.P.36 An autosomal dominant distal myopathy

Hu, J., Zhao, Z.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

49

G.P.37 Muscle immunohistochemistry and pathology in Welander distal myopathy

Vihola, A., Screen, M., Raheem, O., Huovinen, S., Haapasalo, H., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

50

G.P.50 A nationwide survey of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF) in Japan

Sugie, K., Komaki, H., Kaneda, D., Kurashige, T., Matsumoto, M., Nonaka, I., Ueno, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

51

G.P.51 Structural changes in X-linked myopathy with excessive autophagy: What do they look like?

Mussini, J.M., Vital, A., Coquet, M., David, A., Magot, A., Ferrer, X., Pereon, Y.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

52

G.P.52 A case of X-linked myopathy with excessive autophagy (XMEA) showing a VMA21 gene mutation

Junckerstorff, R.C., Gooding, R., Lamont, P.J., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

53

G.P.53 Abstract withdrawn

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

54

G.P.54 Abstract withdrawn

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

55

G.P.55 Evaluation of pathogenicity of a novel BAG3 mutation by using transgenic medaka

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

56

G.P.56 Novel homozygous stop mutation in alphaB crystallin: Expanding the phenotype

Tesi Rocha, C., Taylor, M., Chang, T., Reyes, C., Winder, T., Moore, S., Bonnemann, C., Nelson, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

57

G.P.57 Differential proteomic analysis of protein aggregates in desminopathy

Maerkens, A., Kley, R.A., Schreiner, A., Theis, V., Mueller, T., Vorgerd, M., Marcus, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

58

G.P.58 Muscle MRI in a filaminopathy family: Involvement of paraspinals is earlier and more severe than of thigh muscles

Ozturk Yavuz, A., Goldfarb, L., Tuncer, O., Dursun, M., Olive, M., Deymeer, F., Parman, Y., Tuncay, R., Serdaroglu-Oflazer, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

59

G.P.59 Characterization and investigation of zebrafish models of Filamin related myofibrillar myopathy

Ruparelia, A.A., Zhao, M., Currie, P.D., Bryson-Richardson, R.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

60

G.P.60 On mitochondrial function and genome integrity in myofibrillar myopathies

Dold, T., Reimann, J., Zsurka, G., Kunz, W.S., Kornblum, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

61

D.P.15 Quantitative T2 relaxation times in lower leg of Duchenne and Becker muscular dystrophy patients

Wokke, B.H., Van den Bergen, J.C., Verschuuren, J.J., Kan, H.E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

62

D.P.16 Metabolic and hemodynamic alterations in the mdx skeletal muscle revisited using multi-parametric functional NMR

Matot, B., Jouvion, G., Martins-Bach, A.B., Wary, C., Carlier, P.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

63

D.P.17 Whole body muscle MRI in three patients suffering from XMEA: A peculiar involvement pattern

Magot, A., Caillon, F., Mussinia, J.M., David, A., Pereon, Y.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

64

D.P.18 Manganese enhanced MRI as an outcome measure in assessing skeletal muscle calcium uptake in muscular dystrophy mouse models

Greally, E., Blain, A., Blamire, A.M., MacGowan, G., Laval, S.H., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

65

D.P.19 Progression of muscle damage in dystrophinopathy

Kuru, S., Konagaya, M., Sakai, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

66

D.P.20 CT volumetry demonstrates muscle volume decrement in GNE myopathy

Nakayama, T., Mori, M., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

67

D.P.21 Reliability and accuracy of skeletal muscle imaging in limb girdle muscular dystrophies

ten Dam, L., van der Kooi, A.J., van Wattingen, M., de Haan, R.J., de Visser, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

68

D.P.22 Muscle ultrasound as a consistent imaging marker for RYR1 related myopathies

Dastgir, J., Bharucha-Goebel, D., Medne, L., Donkervoort, S., Meilleur, K., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

69

D.P.23 3D imaging of internal structures of skeletal muscle with an ultrathin side-viewing optical needle probe

Yang, X., Lorenser, D., Kirk, R.W., Pinniger, G.J., Grounds, M.D., McLaughlin, R.A., Sampson, D.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

70

D.P.24 Identification of muscle necrosis in mdx mice using optical birefringence imaging

Chin, L., Xiaojie, Y., McLaughlin, R.A., Klyen, B.R., Radley-Crabb, H.G., Pinniger, G.J., Shavlakadze, T., Grounds, M.D., Sampson, D.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

71

D.P.25 Mutation in lamin A/C gene causes mechanotransduction defects in human myoblasts

Bertrand, A., Ehret, C., Mamchaoui, K., Ziaei, S., Mayer, M., Desguerre, I., Bonne, G., Coirault, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

72

D.P.26 3D kinematic and EMG study of the arm function in boys with DMD: A pilot study

Janssen, M.M.H., De Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

73

D.P.27 Arm function in LGMD studied with 3D movement kinematics and EMG

Bergsma, A., Murgia, A., Cup, E., Meijer, K., De Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

74

D.P.28 Arm function in FSHD studied with 3D movement kinematics and EMG

Bergsma, A., Murgia, A., Cup, E., Meijer, K., De Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

75

G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers

Bovolenta, M., Scotton, C., Bonaldo, P., Bernardi, P., Grumati, P., Gualandi, F., Schwartz, E., Daraselia, N., Kotelnikova, E., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

76

G.P.16 Myopathy with lobulated fibers, cores and rods caused by a COL6 mutation

Claeys, K.G., Schrading, S., Bozkurt, A., Pallua, N., Kuhl, C., Schulz, J.B., Weis, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

77

G.P.17 Getting to the core of the matter: Cores as a common muscle pathology finding in the collagen VI-related myopathies

Foley, A.R., Phadke, R., Feng, L., Sewry, C.A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

78

G.P.18 Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

Solares Perez, A., Gartioux, C., Beuvin, M., Thao, M. Viou, Laine, J., Medja, F., Ferry, A., Romero, N.B., Bonne, G., Allamand, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

79

G.P.19 Collagen VI genes in zebrafish skeletal muscle: Implications for collagen VI-myopathies

Ramanoudjame, L., Rocancourt, C., Lainé, J., Lyphout, L., Gartioux, C., Schwartz, M.E., Cousin, X., Allamand, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

80

G.P.20 Transcriptome profiling identifies key regulators of molecular pathogenesis in collagen VI myopathies

Butterfield, R.J., Bonnemann, C., Weiss, R.B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

81

G.P.21 Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways

Deconinck, N., Mussche, S., De Paepe, B., Gartioux, C., Allamand, V., Richard, P., Smet, J., Devreese, B., Coster, R. Van

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

82

G.P.22 Possible mutation dependent mechanisms for intra-familial variation of severity in Collagen VI-Related Myopathies (COL6-RM)

Donkervoort, S., Hu, Y., Dastgir, J., Meilleur, K., Zou, Y., Foley, A.R., Harper, A., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

83

G.P.23 Phenotypic variability and survey in a series of Bethlem myopathy

Deconinck, N., Richard, P., Allamand, V., Behin, A., Lafôret, P., Ferreiro, A., Ledeuil, C., Gartioux, C., Carlier, R.Y., Carlier, P., Romero, N.B., Eymard, B., Stojkovic, T.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

84

G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

Mrazova, L., Vondracek, P., Buckova, H., Fajkusova, L., Hermanova, M., Vesely, K., Muchova, M., Oslejskova, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

85

G.P.25 A 3′UTR mutation creates a potential microRNA target site in the GFPT1 gene of LG-CMS patients

Müller, J.S., Dusl, M., Pertl, A., Lochmüller, H., Abicht, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

86

G.P.26 DOK7 limb girdle myasthenic syndrome mimicking congenital muscular dystrophy

Mahjneh, I., Lochmüller, H., Muntoni, F., Abicht, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

87

G.P.38 The LGMD1D gene DNAJB6: Its role in sarcomeric protein maintenance and aggregation

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

88

G.P.39 DNAJB6 myopathy in Japanese cohort

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

89

G.P.40 LGMD2G with clinical presentation of congenital muscular dystrophy: A rare phenotype

Almeida, C.F., Lima, B.L., Onofre-Oliveira, P.C.G., Pavanello, R.C.M., Zatz, M., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

90

G.P.41 The identification of LGMD2G (TCAP) in Australia

Waddell, L.B., Lek, M., Bahlo, M., Bromhead, C., Jones, K., North, K.N., Clarke, N.F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

91

G.P.42 Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I

Krag, T.O., Hauerslev, S., Sveen, M.L., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

92

G.P.43 LGMD2I is not rare in Asia

Liang, W.C., Ogawa, M., Hayashi, Y.K., Wang, C.H., Huang, W.T., Nishino, I., Jong, Y.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

93

G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients

Hermanova, M., Stehlikova, K., Vondracek, P., Mrazova, L., Vohanka, S., Fajkusova, L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

94

G.P.45 A family of autosomal dominant limb-girdle muscular dystrophy with rimmed vacuole

Shin, J.H., Jung, N.Y., Park, Y.E., Kim, D.S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

95

G.P.46 Screening for deletion and duplication mutations in genes implicated in LGMD

Roxburgh, R.H., Marquis-Nicholson, R., Hutchinson, D.O., Waddell, L.B., Clarke, N.F., North, K.N., Love, D.R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

96

G.P.47 Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical manifestations in early childhood

Murakami, N., Takeshita, E., Oto, Y., Itabashi, H., Shiraishi, M., Kudo, K., Nagai, T.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

97

G.P.48 Affixin is involved in sarcolemmal repair

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

98

G.P.49 Muscle-specific overexpression of caveolin 3 causes muscle atrophy, but not muscular dystrophy

Ohsawa, Y., Fujino, M., Nishimatsu, S., Rikimaru, M., Hayashi, S., Sunada, Y.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

99

G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation

Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J.C., Laforet, P., Pénisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

100

G.P.76 Dystrophin levels do not influence disease progression in Becker muscular dystrophy patients with an exon 45–47 deletion

van den Bergen, J., Wokke, B., van Duinen, S., Ginjaar, H., Janson, A., van Deutekom, J., Aartsma-Rus, A., Kan, H., Verschuuren, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

101

G.P.77 Deletions in the dystrophin gene predict loss of ambulation before 10years of age in boys with Duchenne muscular dystrophy

Davidson, Z.E., Kornberg, A.J., Ryan, M.M., Sinclair, K., Cairns, A., Walker, K.Z., Truby, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

102

G.P.78 Dystrophin isoforms with incomplete β dystroglycan and syntrophin binding domains retain partial function

Fletcher, S., Adams, A.M., Greer, K., Johnsen, R.D., Adkin, C., Wilton, S.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

103

G.P.79 DMD mutation spectrum in 611 unrelated dystrophinopathy families

Juan-Mateu, J., Fernandez, M.J., Gonzalez-Quereda, L., Verdura, E., Colomer, A., Nascimento, A., Baiget, M., Gallano, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

104

G.P.80 Non-sense mutation in exon two of the dystrophin gene results in mild Becker muscular dystrophy with generalized muscle hypertrophy

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

105

G.P.81 Duchenne clinically discordant brothers: A “Ringo-like” phenotype in humans?

Zatz, M., Pavanello, R.C.M., Vieira, N.M., Gomes, J.P., Assoni, A.F., Anequini, I.P., Nogueira, L., Canovas, M., Pelatti, M., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

106

G.P.82 ‘Double Trouble’: Diagnostic challenges in DMD in patients with an additional hereditary skeletal dysplasia

Donkervoort, S., Tesi-Rocha, C., Schreiber, A., Schindler, A., Leach, M.E., Zurcher, V., Hu, Y., Mankodi, A., Friedman, N.R., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

107

G.P.83 Temporal muscle hypertrophy and skull morphology in DMD patients

Straathof, C.S.M., Doorenweerd, N., Wokke, B.H.A., Dumas, E.M., Webb, A.G., Buchem, M.A., Niks, E.H., Verschuuren, J.J.G., Kan, H.E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

108

G.P.84 Mislocalization of nNOS alters the interactions between nNOS and proteins involved with muscle contraction in steroid-induced myopathy

Simmers, J.L., Chaerkady, R., Hedderick, E. Finanger, Marx, R., Mejias, R., Pandey, A., Cohn, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

109

G.P.85 Cerebellar dysfunction in the mdx mouse: An electrophysiological and behavioral study

Prigogine, C., Deconinck, N., Ruiz, J. Marquez, Schakman, O., Gailly, P., Cheron, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

110

C.I.1 Gene Wars: Episode V. The clinician strikes back

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

111

C.I.2 Congenital myopathies: Blurring the boundaries, sharpening the focus

Bönnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

112

C.I.3 Actin-related disorders

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

113

C.O.1 Role of Amphiphysin-2 and N-WASP in nuclear positioning and T-tubule formation during myofiber differentiation

Falcone, S., Gache, V., Didier, N., Romero, N., Sassoon, D.A., Laporte, J., Gomes, E.R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

114

C.O.2 DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance

Krishnan, K.J., Nelson, G., Romero, N.B., Ratnaike, T., Blakely, E.L., Ziyadeh-Isleem, A., Miller, J., Murphy, J.L., Horvath, R., Lochmuller, H., Flanigan, K., Turnbull, D.M., Guicheney, P., Bitoun, M

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

115

C.O.3 Efficacy of cardiac actin over-expression therapy for ACTA1 disease seems mutation specific

Ravenscroft, G., McNamara, E., Griffiths, L.M., Papadimitriou, J.M., Hardeman, E.C., Bakker, A.J., Laing, N.G., Nowak, K.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

116

C.O.4 Dominant mutation in CCDC78 in a unique congenital myopathy with central nuclei and atypical cores

Davidson, A.E., Majczenko, K., Camelo-Piragua, S., Li, X., Joshi, S., Xu, J., Peng, W., Li, J.Z., Burmeister, M., Dowling, J.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

117

C.O.5 Ventricular noncompaction with arthrogryposis due to TTN compound heterozygosity leading to loss of functional TTN kinase domain

Chauveau, C., Bönnemann, C., Alexandrovich, A., Kho, A.L., Julien, C., Foley, R., Vihola, A., Udd, B., Samuels, M.E., Gautel, M., Ferreiro, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

118

C.O.6 Complete genetic analysis by whole exome sequencing of a cohort with centronuclear myopathy identifies titin gene mutations

Agrawal, P.B., Schmitz, K., DeChene, E.T., Ceyhan, Ö., Mercier, M., Viola, M., Markianos, K., Beggs, A.H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

119

C.P.1 Central core disease with a novel RYR1 mutation in a Korean family

Jung, N.Y., Huh, S.Y., Park, J.S., Park, Y.E., Shin, J.H., Kim, D.S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

120

C.P.2 In silico analysis of recessive RYR1 mutations identifies novel potential disease mechanisms

Hwang, J.H., Amburgey, K., Treves, S., Zorzato, F., Dowling, J.J., Clarke, N.F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

121

C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations

Voermans, N.C., Jungbluth, H., Raaphorst, J., Snoeck, M., Straathof, C., Schelhaas, H.J., Sie, L., de Coo, R., van de Pol, W., de Visser, M., Scheffer, H., Kamsteeg, E.J., van Engelen, B.G.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

122

C.P.4 Congenital fiber type disproportion with myofibrillar disorganization and altered internal nuclei is caused by RYR1 mutation

Ishiyama, A., Hayashi, Y.K., Kajino, S., Komaki, H., Saito, T., Saito, Y., Nakagawa, E., Sugai, K., Sasaki, M., Noguchi, S., Nonaka, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

123

C.P.5 Three siblings with multi-minicore myopathy not associated with SEPN1 or RYR1 mutations

Kava, M.P., Hawkins, C., Millan, L. Mac, Banwell, B., Yoon, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

124

C.P.6 Study of a novel autosomal recessive minicore disease

Yau, K.S., Lamont, P.J., Fabian, V., Kresoje, N., Sivadorai, P., Allcock, R., Davis, M., Laing, N.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

125

C.P.7 Dynamin 2 in skeletal muscle development and diseases

Cowling, B., Koutsopoulos, O.S., Koch, C., Mojzisova, H., Roux, A., Heckel, E., Ferry, A., Amoasii, L., Koebel, P., Kretz, C., Vermot, J., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

126

C.P.8 Clinical and pathological characterization of sporadic centronuclear myopathy by DNM2 mutations

Park, Y.E., Kim, H.S., Bae, J.S., Choi, Y.C., Kim, D.S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

127

C.P.9 A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with unusual clinical presentation and necklace fibres

Casar-Borota, O., Jacobsson, J., Libelius, R., Moslemi, A.R., Hedberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

128

C.P.10 Phosphatase inactive myotubularin rescues X-linked centronuclear (myotubular) myopathy phenotypes in mice

Amoasii, L., Bertazzi, D., Hnia, K., Tronchere, H., Rinaldi, B., Chicanne, G., Cowling, B.S., Ferry, A., Payrastre, B., Laporte, J., Friant, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

129

C.P.11 Centronuclear and myotubular myopathies: Clinical, histological and molecular findings in a large series of Brazilian patients

Abath, O., Silva, M.R., Pesquero, J.B., Oliveira, A.S.B., Carvalho, M., Chadi, G., Reed, U.C., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

130

C.P.12 The H40Y α-actin mutation differently affects limb and respiratory muscle contraction

Lindqvist, J.M., Ochala, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

131

C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

132

C.P.14 A four-generation Japanese family with autosomal dominant nemaline myopathy associated with dilated cardiomyopathy

Ichikawa, Y., Goto, J., Ishiura, H., Oya, Y., Kowa, H., Shimizu, J., Date, H., Tsuji, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

133

C.P.15 K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity

Mokbel, N., Ilkovski, B., Memo, M., Marttila, M., Kreissl, M., Wallgren-Pettersson, C., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vainzof, M., Monnier, N., Nowak, K., McNamara, E.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

134

C.P.16 Mutations in the β-tropomyosin (TPM2) and γ-tropomyosin (TPM3) genes causing a spectrum of neuromuscular disorders

Marttila, M., Lehtokari, V.-L., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

135

C.P.17 A repeating structural motif in tropomyosin that is responsible for multiple gain-of-function skeletal myopathy mutations

Marston, S.B., Lehman, W.H., Li, X., Memo, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

136

C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function

Memo, M., Clarke, N.F., Laing, N.G., Nowak, K.J., Ravenscroft, G., Sewry, C., Jain, R., Jayawant, S., Lehtokari, V.L., Marttila, M., Wallgren-Pettersson, C., Marston, S.B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

137

T.P.1 Parallel effects of α-methyl-prednisolone on skeletal muscle and brain of mdx mice: Identification of a novel mechanism of action

Nico, B., Tamma, R., Annese, T., Capogrosso, R.F., Sblendorio, V.T., Ruggieri, S., Cozzoli, A., Ribatti, D., De Luca, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

138

T.P.2 Givinostat improves histological and functional parameters in mdx mice dose and concentration dependently

Consalvi, S., Mozzetta, C., Bettica, P., Mascagni, P., Monzani, V., Germani, M., Del Bene, F., Puri, P.L., Saccone, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

139

T.P.3 Treatment with cysteine precursors decreases protein thiol oxidation and improves muscle pathology in the mdx mouse

Terrill, J., Radley-Crabb, H., Grounds, M., Arthur, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

140

T.P.4 Treatment with oral metformin improves muscle function in mdx mice

Terry, R.L., Wells, D.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

141

T.P.5 Sildenafil (Viagra®) improves cardiac and diaphragm muscle function in the dystrophic mouse

Percival, J.M., Whitehead, N.P., Adams, M.E., Adamo, C.M., Beavo, J.A., Froehner, S.C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

142

T.P.6 Combination anti-inflammatory and anti-fibrotic treatment in muscular dystrophy – The more the better?

Kassis, I., Yanay, N., Elbaz, N., Brunschwig, Z., Ettinger, K., Nevo, Y.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

143

T.P.7 Small molecule compounds correct alternative splicing of the SMN2 gene and restore SMN protein expression and function

Naryshkin, N., Narasimhan, J., Dakka, A., Gabbeta, V., Haley, M., Jung, S., Crona, J., Vazirani, P., Furia, B., Qi, H., Woll, M., Lee, S., Choi, S., Koyama, H., Yang, T., Chen, G., Zhang, S., Zhang, N

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

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english, 2012

144

T.P.8 Induction of SMN protein by combination of STAT5 and p38 kinase activating, clinic ready compounds for the treatment of SMA

Farooq, F.T., MacKenzie, D., Shamim, F., Holcik, M., MacKenzie, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

145

T.P.9 Sialyllactose reversed myopathic phenotype in symptomatic GNE myopathy model mice

Yonekawa, T., Malicdan, M.C., Nonaka, I., Hayashi, Y.K., Mine, T., Yamamoto, T., Nishino, I., Noguchi, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

146

T.P.10 The acute effects of curcumin exposure on skeletal muscle contractile function

Pinniger, G.J., Grzelak, M., Zhang, B., Bakker, A.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

147

T.P.11 Effect of formoterol, a selective β2 adrenoceptor agonist, against nerve injury-induced muscle disuse atrophy

Jourdain, M., Obrecht, M., Allegrini, P.R., Hatakeyama, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

148

T.P.12 Dietary phosphate intake and exercise-induced stress induce severe muscle necrosis in adult mdx mice

Wada, E., Yoshida, M., Date, M., Nonaka, I., Nagata, Y., Matsuda, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

149

T.P.13 A phase 1 safety and pharmacokinetic study of sialic acid-extended release tablets in patients with Hereditary Inclusion Body Myopathy (HIBM or GNE myopathy)

Kakkis, E., Maurer, M., Shah, P., Donikyan, M., Ahmed, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

150

T.P.14 Gentamicin treatment of nonsense-mediated Duchenne Muscular Dystrophy: A case report

Lee, H.N., Sawnani, H., Wong, B.L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

151

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

Yiu, E.M., Peverill, R., Tai, G., Stockley, C., Sarsero, J., Evans-Galea, M., Churchyard, A., Corben, L., Lee, K., Ryan, M.M., Delatycki, M.B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

152

T.P.43 Enzyme replacement therapy in late-onset Pompe disease – A systematic literature review

Toscano, A., Schoser, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

153

T.P.44 The pharmacological chaperone AT2220 increases the stability of recombinant human acid α-glucosidase and leads to greater tissue uptake and glycogen reduction in a mouse model of Pompe disease

Valenzano, K.J., Feng, J., Soska, R., Pellegrino, L., Frascella, M., Lun, Y., Flanagan, J.F., Guillen, D., Lockhart, D.J., Khanna, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

154

T.P.45 An ongoing phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with Pompe disease – Preliminary results

Kishnani, P., Tarnopolsky, M., Sivakumar, K., Byrne, B., Goker-Alpan, O., Guter, K., Pervaiz, M., Dasouki, M., Levine, T., Roberts, M., Johnson, F.K., Sitaraman, S., Khanna, R., Flanagan, J., Sjoberg,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

155

T.P.46 A novel phase 2a study design to investigate drug-drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha-glucosidase in subjects with Pompe disease

Kishnani, P., Tarnopolsky, M., Sivakumar, K., Byrne, B., Goker-Alpan, O., Guter, K., Pervaiz, M., Dasouki, M., Levine, T., Roberts, M., Johnson, F.K., Valenzano, K.J., Lockhart, D.J., Boudes, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

156

T.P.47 Bezafibrate does not improve fat oxidation in patients with disorders of fat metabolism; a double blind, randomized clinical trial

Ørngreen, M.C., Madsen, K.L., Preisler, N., Andersen, G., Vissing, J., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

157

G.P.61 Influence of HLA-DRB3 on susceptibility to sporadic inclusion body myositis

Rojana-udomsart, R., Mitrpant, C., Wilton, S.D., Mastaglia, F.L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

158

G.P.62 Myositis-associated, myositis-specific and organ-specific autoantibodies in inflammatory myopathies: A West Australian population control study

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

159

G.P.63 High-resolution analysis of HLA-DRB1 alleles and diplotypes in an Australian inclusion body myositis cohort

Rojana-udomsart, A., Castley, A., James, I., Needham, M., Scott, A., Day, T., Kiers, L., Corbett, A., Sue, C., Martinez, P., Christiansen, F., Mastaglia, F.L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

160

G.P.64 Histological, immunohistochemical and electron microscopic study of muscle in MCK-βAPP mice

Luo, Y.B., Johnsen, R., Fabian, V., Griffiths, L., Wilton, S., Fletcher, S., Mastaglia, F.L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

161

G.P.65 Epidemiological study of malignancy-associated myositis in Japan

Hida, A., Shimizu, J., Maeda, M., Tsuji, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

162

G.P.66 Dysfunction of ESCRT-pathway is associated with formation of rimmed vacuoles and inclusions in sporadic inclusion body myositis

Kurashige, T., Takahashi, T., Yamazaki, Y., Nagano, Y., Nakamura, T., Arihiro, K., Yamawaki, T., Matsumoto, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

163

G.P.67 Favorable response to low dose oral methotrexate in acute sarcoid myositis

Jung, N.Y., Ro, K.H., Park, J.S., Park, Y.E., Shin, J.H., Kim, D.S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

164

G.P.68 Survival versus a fatal outcome in two cases of Anncaliia algerae microsporidial myositis

Watts, M., Chan, R., Cheong, E., Prowse, M.V., Bertouch, J.V., Field, A.S., Stark, D., Brammah, S., Clezy, K., Tong, C.W., Outhred, A.C., Tobias, V., Reddel, S.W.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

165

G.P.69 Haycocknema perplexum: A rare cause of eosinophilic myositis in Australia

Reardon, K.A., McKelvie, P., Daffy, J., Spratt, D.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

166

G.P.70 Acute necrotising myopathy induced by strenuous exercise and co-factors

Keohane, C., Harney, S., Haroon, S., Bermingham, N.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

167

G.P.71 Myasthenia gravis in young children and adolescents: Clinical symptoms and treatment options

Della Marina, A., Trippe, H., Lutz, S., Shamdeen, G.M., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

168

G.P.72 Myasthenic symptoms: From initial presentation to diagnosis

Trippe, H., Munteanu, M., Stehling, F., Mellies, U., Vincent, A., Schneider-Gold, C., Heller, R., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

169

G.P.73 Abnormal neuromuscular transmission in infants with Prader–Willi syndrome

Rajendran, B., Young, H., Tidswell, T., Mansur, A., Robb, S., Pitt, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

170

G.P.74 Clinical aspects of presynaptic neuromuscular transmission defect in anti-GQ1b IgG antibody-related disorders

Lo, Y.L., Seah, A., Lim, L.L., Leoh, T.H., Dan, Y.F., Fook-Chong, S., Ratnagopal, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

171

T.P.16 Restoring the reading frame in large DMD duplication mutations results in dystrophin expression in vivo

Muses, S., Jones, H., Wells, D.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

172

T.P.17 Alternate translational initiation and amelioration of phenotype in the DMD gene

Wein, N., Vulin, A., Findlay, A., Maiti, B., Kaminoh, Y., Taylor, L., Flanigan, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

173

T.P.18 A recipe for the rational design of efficient antisense oligonucleotides for DMD gene exon skipping

Wee, K.B., Wang, J.L., Chen, Y.J., Xiong, Q.B., Lai, P.S., Pramono, Z.A.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

174

T.P.19 Enhanced exon skipping in the 4CV dystrophic mouse model of muscular dystrophy through refined oligomer design

Mitrpant, C., Fletcher, S., Pinniger, G., Johnsen, R., Kole, R., Wilton, S.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

175

T.P.20 Antisense oligonucleotide induced dystrophin exon 45 skipping at a low EC50 in a cell-free splicing system

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

176

T.P.21 Exon skipping for dysferlinopathies

Aartsma-Rus, A., Verwey, N., Schneiderat, P., van der Maarel, S.M., van Ommen, G.J.B., Houweling-Gazzoli, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

177

T.P.22 Nanoparticles as delivery systems for antisense oligoribonucleotides: Biodistribution studies and definition of the release kinetic in treated mdx mice

Falzarano, M.S., Passarelli, C., van Deutekom, J., Bassi, E., Fabris, M., Sabatelli, P., Sparnacci, K., Laus, M., Bonaldo, P., Braghetta, P., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

178

T.P.23 Quantitative evaluation of locoregional high venous pressure rAAV8-U7- ESE6-ESE8 exon-skipping therapy in the GRMD dog using NMR 1H imaging and 31P spectroscopy

Thibaud, J.L., Wary, C., Moullec, S., Azzabou, N., Le Guiner, C., Garcia, L., Montus, M., Cherel, Y., Fromes, Y., Servais, L., Roques, S., Moullier, P., Voit, T., Carlier, P.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

179

T.P.24 Correction of the GNE Myopathy M712T founder mutation by trans-splicing

Tal, T., Lorain, S., Mitrani-Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

180

T.P.25 Development of the exon exchange method for repair of mutant nebulin transcripts

Laitila, J., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

181

T.P.26 Low dystrophin levels increase survival and improve pathology and motor function in dystrophin/utrophin double knockout mice

van Putten, M., Hulsker, M., Young, C., Nadarajah, V.D., Heemskerk, H., ’t Hoen, P.A.C., van Ommen, G.J.B., Aartsma-Rus, A.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

182

T.P.27 Characterization of the modular domains of dysferlin for gene transfer

Barthélémy, F., Kergourlay, V., Lévy, N., Krahn, M., Bartoli, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

183

T.P.28 Pseudo-exon inactivation of the dystrophin gene: Ideal candidates for exon skipping

Barrett, L., Krishnaswamy, S., Lamont, P., Flanigan, K., Davis, M., Gooding, R., Fletcher, S., Wilton, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

184

T.P.29 Categorization of 77 dystrophin exons into five groups by a decision tree using indexes of splicing regulatory factors

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

185

T.P.30 Characterisation of two DMD-causing splice-site mutations and development of personalised exon skipping strategies

Barrett, L., Meloni, P.L., Fletcher, S., Wilton, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

186

T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy

Anthony, K., Arechavala-Gomeza, V., Ricotti, V., Torelli, S., Feng, L., Tasca, G., Guglieri, M., Barresi, R., Armaroli, A., Ferlini, A., Bushby, K., Straub, V., Ricci, E., Sewry, C., Morgan, J., Munto

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

187

T.P.32 Developing a transient mouse model of Spinal Muscular Atrophy to determine the functionality of SMN on peripheral tissue

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

188

T.P.33 A cutting-edge approach to Spinal Muscular Atrophy treatment using antisense oligonucleotides

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

189

T.P.34 FHL1 reduces muscle degeneration in dystrophin-deficient mdx mice through the sarcolemmal recruitment of utrophin

D’Arcy, C.E., Feeney, S.J., McLean, C.A., Gehrig, S.M., Lynch, G.S., Cowling, B.S., Mitchell, C.A., McGrath, M.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

190

T.P.35 FHL1 is beneficial in reducing muscle wasting in dystrophic FRG1 mice

Feeney, S.J., McGrath, M.J., D’Arcy, C.E., Sriratana, A., Tupler, R., Price, J.T., Mclean, C.A., Mitchell, C.A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

191

T.P.36 Hepatocyte growth factor reverses atrophy by inducing protein synthesis in mice

Hauerslev, S., Vissing, J., Krag, T.O.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

192

T.P.37 Changes in muscle expression of PGC-1α and related signalling molecules in the mdx mouse: Possible impact on adaptive fiber phenotype transition and implication for drug studies

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

193

T.P.38 Effects of steroid hormones on myostatin expression and on genes of muscle regeneration pathway

Santos, A.L.F., Calyjur, P.C., Zilberztajn, D., Onofre-Oliveira, P.C.G., Martins, P.C.M., Yamamoto, L.U., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

194

T.P.39 Building muscle with myostatin inhibitors

Bialek, P., Owens, J., St. Andre, M., Marsden, D., Denz, M., Yaworsky, P., Morris, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

195

T.P.40 Implication of SIRT1 and its downstream pathways in dystrophic process

Messina, S., Vita, G.L., De Pasquale, M.G., Cama, A., Licata, A., Romeo, S., Ciranni, A., Lo Giudice, C., Toscano, A., Aguennouz, M., Vita, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

196

T.P.41 The role of the transcriptional factor Pax3 on myogenesis and the effect on the expression of myogenic regulatory factors

Hagiwara, H., Shan, H., Masaki, T., Ikeda, M., Shimizu, T., Matsumura, K., Saito, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

197

T.P.42 Antisense oligonucleotide induced over-expression of progerin in human myoblasts: A possible model of muscle aging

Luo, Y.B., Mastaglia, F.L., Fletcher, S., Wilton, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

198

T.P.48 The use of standard and complementary therapies in DMD and BMD

de Valle, K., Carroll, K., Kennedy, R., Davidson, Z., Ryan, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

199

T.P.49 Low-dose steroid therapy for cardiomyopathy in Duchenne Muscular Dystrophy patients

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

200

T.P.50 Outcomes associated with an Interdisciplinary Comprehensive Care program for DMD patients treated with long term glucocorticoids

Wong, B.L., Hu, S., Bange, J., Rybalsky, I., Collins, J., Rutter, M.M., McCormick, A., McGuire, M., McMahon, M., Horn, P., Boutwell, D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

201

T.P.51 Metformin reduces weight and BMI in Duchenne muscular dystrophy patients on long term glucocorticoid therapy

Weatherspoon, S.E., Collins, J., Sucharew, H., Wong, B.L., Rybalsky, I., Rose, S.R., Klein, D.J., Rutter, M.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

202

T.P.52 Pilot study of flavocoxid in ambulant DMD patients

Messina, S., Vita, G.L., Sframeli, M., Licata, N., Cama, A., Ciranni, A., Romeo, S., Aguennouz, M., Vita, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

203

T.P.53 Effect of perindopril orodispersible on muscular function in early stage of Duchenne Muscular Dystrophy

Duboc, D.D., Desguerre, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

204

T.P.54 Epiretinal membrane: A reversible cause for visual disability in myotonic dystrophy

Kersten, H., Danesh-Meyer, H.V., Child, N., Roxburgh, R.H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

205

T.P.55 Allele-specific knockdown to mutant mRNA retrieves cellular function in fibroblasts with point-mutated Ullrich CMD

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

206

G.P.86 X-linked Charcot–Marie–Tooth disease with c.22A>C missense mutation in the GJB1 gene in Koreans

Park, H.J., Jeong, J.L., Choi, Y.C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

207

G.P.87 Demyelinating neuropathy caused by point mutations in PMP22 gene: Phenotype variability

Nascimento, A., Grazia, S., Otez, C., Poo, P., Polo, A., Jimenez-Mallebrera, C., Baas, F., Galvez, H., Iturriaga, C., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

208

G.P.88 Peripheral neuropathies caused by mutations in the myelin protein zero

Salerno, G., Ortez, C., Gálvez, H., Nascimento, A., Campistol, J., Jiménez-Mallebrera, C., Baas, F., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

209

G.P.89 Early onset mitofusin 2 gene (MFN2) mutation: Report of eight patients

Colomer, J., Nascimento, A., Ortez, C., Salerno, G., Garcı´a Catalán, M.J., Jimenez-Mallebrera, C., Pons, M., Palau, F., Baas, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

210

G.P.90 Dislocating patellae in children with CMT1a

Main, M., Hiscock, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

211

G.P.91 A new syndrome characterized by demyelinating neuropathy and hydrocephalus caused by a heterozygous mutation in one of the aminoacyl-tRNA synthetase genes

Niks, E.H., Potjer, T.P., Al Momani, R., Sun, Y., Koot, R.W., van Dijk, J.G., Haring, D.A.J., Aten, E., Kriek, M., Santen, G.W.E., Lesnik Oberstein, S.A.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

212

G.P.92 Study of an autosomal recessive spinocerebellar ataxia with peripheral neuropathy

Yau, K.S., Lamont, P.J., Nowak, K.J., Kresoje, N., McNamara, E.L., Allcock, R.J., Davis, M.R., Laing, N.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

213

G.P.93 Study of a novel autosomal dominant spinocerebellar ataxia

Lamont, P.J., Yau, K.S., Duff, R.M., Carroll, W., Davis, M.R., Laing, N.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

214

G.P.94 Incidence and severity of peripheral neuropathy in children on vincristine – Do vitamin E levels change during treatment?

Kava, M.P., Walsh, P., Berroya, A., Halstead, Y., Srinivasjois, R.M., Lewis, B., Cole, C., Baker, D., Nagarajan, L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

215

G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Meilleur, K.G., Pierson, T.M., Jain, M., Donkervoort, S., Markello, T., Wolfe, L., Accardi, J., Adams, D., Sincan, M., Fuentes-Fajardo, K., Cherukuri, P.F., Cruz, P., Bajraktari, I., Lehky, T., Teer,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

216

G.P.96 The point mutations spectrum of survival motor neuron gene 1 (SMN1) in Polish SMA patients lacking a homozygous SMN1 deletion

Jedrzejowska, M., Gos, M., Zimowski, J., Kostera-Pruszczyk, A., Ryniewicz, B., Hausmanowa-Petrusewicz, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

217

G.P.97 Haplotype analyses reveal several new patients with late-onset spinal motor neuronopathy

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

218

G.P.98 Dysfunction of the neuromuscular junction in patients with spinal muscular atrophy type 2 and 3

Van der Pol, W.L., Wadman, R.I., Van den Berg, L.H., Vrancken, A.F.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

219

S.I.1 Standards of care in neuromuscular disorders

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

220

S.I.2 Lungs and muscle: How are we doing?

Iannaccone, S.T.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

221

S.I.3 Prevention of cardiac sudden death in patients with muscle diseases

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

222

G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein

Hackman, P., Sarparanta, J., Lehtinen, S., Naukkarinen, A., Evilä, A., Jonson, P.H., Luque, H., Screen, M., Edström, L., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

223

G.O.2 Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Hedberg, C., Ohlsson, M., Brådvik, B., Lindberg, C., Tajsharghi, H., Danielsson, O., Melberg, A., Udd, B., Martinsson, T., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

224

G.O.3 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies

Blandin, G., Marchand, S., Charton, K., Daniele, N., Gicquel, E., Stockholm, D., Bartoli, M., Richard, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

225

G.O.4 Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing

Bovolenta, M., Sartori, A., Rieber, N., Scapoli, C., Zaharieva, I., t’Hoen, P.B., Chaouch, A., Merlini, L., Bertini, E., Mercuri, E., Kotelnikova, E., Schwartz, E., Cirak, S., Morgan, J., Tanzi, R., L

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

226

G.O.5 Deciphering protein aggregates in myofibrillar myopathies – A proteomics approach

Kley, R.A., Maerkens, A., Olive, M., Claeys, K.G., Hanisch, F., van der Ven, P.F.M., Fuerst, D.O., Mueller, T., Marcus, K., Vorgerd, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

227

G.O.6 Autosomal recessive desminopathy with desmin-null mutations presenting in childhood

Barresi, R., Waele, L. De, Henderson, M., Hudson, J., Horrocks, I., Longman, C., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

228

G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Guergueltcheva, V., Peeters, K., Baets, J., Ceuterick-de Groote, C., Martin, J.J., Suls, A., Vriendt, E.D., Mihaylova, V., Chamova, T., Almeida-Souza, L., Ydens, E., Tzekov, C., Hadjidekov, G., Gospod

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

229

G.O.8 The first inclusion body myositis-specific autoantibody: Anti-MUP44 targets the cytosolic 5′-nucleotidase IA

van Engelen, B.G.M., Pluk, H., G. Pruijn,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

230

S.P.1 Can the six minute walk test (6MWT) reflect deterioration in function in ambulant children with Spinal Muscular Atrophy (SMA)

McCullagh, G., Main, M., Ash, M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

231

S.P.2 Disease progression as measured by the 6MWD in Duchenne Muscular Dystrophy; a single centre experience of 62 boys treated with daily corticosteroids

Goemans, N.M., van den Hauwe, M., van Impe, A., Mercier, T., Wilson, R., Buyse, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

232

S.P.3 Diverse walking distances predict functional outcomes in Duchenne Muscular Dystrophy

Lowes, L.P., Alfano, L.N., Berry, K., Wang, W., Flanigan, K.F., Mendell, J.R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

233

S.P.4 Functional changes in Duchenne muscular dystrophy: A 24month longitudinal cohort study

Mazzone, E.S., Pane, M., Scalise, R., Sormani, M.P., Torrente, Y., Berardinelli, A., Messina, S., Cavallaro, F., ′Amico, A. D, Doglio, L., Bruno, C., Politano, L., Frosini, S., Battini, R., Bello, L.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

234

S.P.5 Trial readiness: Clinical interpretability of change scores of the North Star Ambulatory Assessment in Duchenne muscular dystropy

Mayhew, A.G., Eagle, M., Scott, E., Bushby, K.M.D., Adnan, M., Muntoni, F., Cano, S.J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

235

S.P.6 Exploratory Rasch analysis of the EK2 scale used in a population of Duchenne muscular dystrophy (DMD)

Mayhew, A.G., Eagle, M., Steffenson, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

236

S.P.7 Validation trial of a movement Holter monitor based on accelerometry for the non-ambulatory neuromuscular patients

Totoescu, A., Le Moing, A.G., Moraux, A., Hogrel, J.Y., Vissière, D., Sinègre, L., Voit, T., Berquin, P., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

237

S.P.8 Validation of linear accelerations and angular velocities to estimate the efficacy of a subject when performing a quantified task in a controlled environment

Le Moing, A.G., Totoescu, A., Moraux, A., Hogrel, J.Y., Vissiere, D., Sinegre, L., Voit, T., Berquin, P., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

238

S.P.9 Development of an upper limb functional scale in dystrophinopathies

Duong, T., Eagle, M., Mayhew, A.G., Mazzone, E., Florence, J., James, M., Main, M., Ash, M., Klingels, K., Van den Hauwe, M., Decostre, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

239

S.P.10 Upper limb assessment in DMD: An exploratory study and critical review of the existing scales

Bianco, F., Mazzone, E., Di Mauro, M.S., Pane, M., Ricotti, V., Vasco, G., Palermo, C., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

240

S.P.11 Development of a virtual upper extremity assessment tool for individuals with DMD across the lifespan

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

241

S.P.12 Investigating arm function in boys with DMD by means of an international questionnaire

Janssen, M.M.H., Bergsma, A., De Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 41 KB

english, 2012

242

S.P.13 Exploring arm function in FSHD by means of questionnaires

Bergsma, A., Cup, E., De Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 41 KB

english, 2012

243

S.P.14 Exploring arm function in persons with LGMD by means of questionnaires

Bergsma, A., Cup, E., De Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

244

S.P.15 Utility of subjective pain scales for assessments of standing with knee–ankle–foot-orthoses in Duchenne muscular dystrophy

Iwata, Y., Sakamoto, T., Maruyama, A., Tateishi, T., Yorimoto, K., Yajima, H., Wakita, M., Watabe, T., Sasaki, Y., Mogi, M., Matui, A., Mori, M., Kobayashi, Y., Komaki, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

245

DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

Rodger, S., Antonova, V., Brabec, P., Catlin, N., Garami, M., Gramsch, K., Guergueltcheva, V., Herczegfalvi, A., Kaminska, A., Karcagi, V., Kostera-Pruszczyk, A., Lusakowska, A., Mahoney, A., Mrázová,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

246

S.P.31 What was the age and cause of death in patients with Duchenne muscular dystrophy in Sweden during 2000–2010?

Stromberg, A., Darin, N., Kroksmark, A.K., Tulinius, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

247

S.P.32 The HIBM Patient Monitoring Program (HIBM-PMP): Registry and natural history study to advance research and clinical management in Hereditary Inclusion Body Myopathy (HIBM or GNE Myopathy)

Kakkis, E., Ditton, J., Skrinar, A.M., Ahmed, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

248

S.P.33 Australasian neuromuscular disease registry

Hammond, E.L., Youngs, L., Bellgard, M., Dawkins, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

249

S.P.34 ReaDY: The Czech national registry of myotonic disorders

Vohanka, S., Mazanec, R., Pavlovska, L., Brabec, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

250

S.P.35 The Human Variome Project – Sharing data – Reducing disease

Smith, T.D., Cotton, R.G.H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

251

S.P.36 The six months performance of neuromuscular diseases registry system of Turkey (Kukas)

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

252

S.P.37 The New Zealand Neuromuscular Disease Registry turns one – Data from the first year

Rodrigues, M., Patel, R., Roxburgh, R.H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

253

S.P.38 Infrastructure for new drug development to treat muscular dystrophy – Current status of patient registration in japan: REMUDY

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

254

S.P.39 BIO-NMD: An update on the discovery and validation of biomarkers for Neuromuscular Diseases (NMDs) – An EU funded FP7 project

Ferlini, A., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

255

S.P.40 BIO-NMD: Identifying serum miRNAs as biomarkers for diagnosis and monitoring therapeutic interventions in Duchenne Muscular Dystrophy

Zaharieva, I., Cirak, S., Kole, R., Ferlini, A., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

256

S.P.41 BIO-NMD: Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

Zaharieva, I., Cirak, S., Kotelnikova, E., Mazo, I., Ferlini, A., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

257

S.P.49 Cautions regarding subcapital whole body DXA scan interpretation among boys with Duchenne muscular dystrophy (DMD)

Mayo, A.L., McAdam, L., Biggar, W.D., Craven, B.C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

258

S.P.50 Physiotherapy assessment of Duchenne and Becker muscular dystrophy in the Neuromuscular Clinic: Standardising the process

Carroll, K., Tewierik, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

259

S.P.51 A study of below knee serial casting for calf contracture in ambulant boys with Duchenne muscular dystrophy

Kennedy, R., Carroll, K., de Valle, K., Tewierik, C., Ryan, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

260

S.P.52 Troponin T adventures in Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

261

S.P.53 Interventions for increasing ankle flexibility in patients with neuromuscular disease: A Cochrane Systematic Review

Rose, K.J., Burns, J., North, K.N.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

262

S.P.54 The effects of ankle position to function in Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

263

S.P.55 Transition and outcomes for young men with Duchenne muscular dystrophy in New South Wales

Geevasinga, N., Young, H., Clarke, N., North, K., Sank, K., Tanner, C., Needham, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

264

S.P.56 Early neurodevelopmental findings in young children with Duchenne muscular dystrophy

Pane, M., Berardinelli, A., ′Angelo, G.D, Ricotti, V., Baranello, G., Morandi, L., Alfieri, P., ′Amico, A.D, Pera, M.C., Palermo, C., Lombardo, M.E., Scalise, R., Quintiliani, M., Bianco, F., Scoto, M

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

265

S.P.57 Duchenne muscular dystrophy and epilepsy

Pane, M., Messina, S., Bruno, C., Striano, P., D’Amico, A., Mercuri, E., Villanova, M., Brancalione, B., Graziano, A., Bianco, F., Vita, G.L., Ricotti, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

266

S.P.58 Assessment of oromotor functions of children with Duchenne muscular dystrophy

Necati, E., Karaduman, A.A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

267

S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Vry, J., Gramsch, K., Rodger, S., Antonova, V., Brabec, P., Catlin, N., Garami, M., Guergueltcheva, V., Herczegfalvi, A., Kaminska, A., Karcagi, V., Kostera-Pruszczyk, A., Lusakowska, A., Mahoney, A.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

268

S.P.60 Neurobehavioural disorders in Duchenne Muscular Dystrophy

Ricotti, V., Scoto, M., Mandy, W.P.L., Entwistle, K., Robb, S.A., Mercuri, E., Skuse, D.H., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

269

S.P.61 Recurrent pseudo-obstruction and sigmoid volvulus in Duchenne Muscular Dystrophy: A case report

Ricotti, V., Engledow, E., Emmanuel, A., Knowles, J., Walker, D., Giordano, P., Simonds, A., Hanna, M., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

270

S.P.62 Ocular characteristics of Duchenne Muscular Dystrophy

Ricotti, V., Theodorou, M., Jägle, H., Muntoni, F., Thompson, D.A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

271

S.P.63 Using a novel ambulatory Ankle Foot Orthoses and Footwear Combination (NAFOFC) in Duchenne Muscular Dystrophy (DMD): Preliminary results for acceptability and changes in functional participation

Bromwich, W., James, M., Stewart, C., Emery, N., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

272

S.P.64 Renal dysfunction is a frequent complication in patients with advanced stage of Duchenne muscular dystrophy

Matsumura, T., Saito, T., Fujimura, H., Shinno, S., Sakoda, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

273

S.P.65 Immunogenicity of intramuscular versus subcutaneous administration of Trivalent Inactivated Influenza Vaccine (TIV) in individuals with neuromuscular diseases

Golekoh, M., Hu, S., Norman, A., Horn, P., Brady, R., Wong, B.L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

274

G.P.112 The diagnostic pathway in adult onset Pompe disease

Chloca, F., Jauregui, A., Rugiero, M., Fulgenzi, E., Dubrovsky, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

275

G.P.113 What lies beneath: Progressive scoliosis unravelling a late onset Pompe disease presentation

Lourenco, C.M., Coelho, J., Marques, W.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

276

G.P.114 Exercise intolerance in Debrancher deficiency is caused by a block in skeletal muscle and liver glycogen breakdown

Prahm, K.P., Preisler, N., Madsen, K.L., Husu, E., Pradel, A., Mollet, A., Labrune, P., Petit, F., Hogrel, J.Y., Jardel, C., Maillot, F., Vissing, J., Laforet, P.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

277

G.P.115 Recurrent myoglobinuria and deranged acyl-carnitines due to mutation of the COII gene of mtDNA

Vissing, C.R., Duno, M., Wibrand, F., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

278

G.P.116 Late onset Muscle Mitochondrial Disease due to a p.R357P Twinkle mutation in an Irish family

Keohane, C., Sadiq, H. El, Taylor, R.W., Bermingham, N., Ryan, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

279

G.P.117 Clinical implications of the proposal that sarcolemma properties of actively growing myofibres differ to those of mature adult myofibres

Grounds, M.D., Shavlakadze, T.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

280

G.P.118 Targeting sarcopenia: Molecular basis of denervation of aged muscles and benefits of life-long exercise

Shavlakadze, T., Chai, R.J., McMahon, C., Grounds, M.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

281

S.P.16 Egen classification scale (Ek) for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Validity and reliability study of the Turkish version

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

282

S.P.17 Standards of care: Ensuring physiotherapists are competent to treat babies and children with neuromuscular disorders

Main, M., Mayhew, A., Pallant, L., Rabb, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

283

S.P.18 Clinical Evaluator training for the GSK DEMAND programme

James, M.K., Eagle, M., Mayhew, A., Rose, K., Glanzman, A., Florence, J., Mazzone, E., Lowes, L., Green, E., Jeter, B., Jordan, M., Morgan, A., Wardell, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

284

S.P.19 Using the Motor Function Measure (MFM) in the assessment of children with Charcot–Marie–Tooth (CMT)1A; strengths and limitations

Main, M., Hiscock, A., Selby, V., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

285

S.P.20 Predictors of ankle instability in children and young people with Charcot–Marie–Tooth disease

Rose, K.J., Hiller, C.E., Mandarakas, M., Raymond, J., Burns, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

286

S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy

Meilleur, K.G., Jain, M., Kim, E., Hynan, L., Shieh, C.Y., Waite, M., Duong, T., Glanzman, A., Main, M., Rose, K., McGuire, M., Bendixen, R., Foley, R., Donkervoort, S., Schindler, A., Kokkinis, A., H

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

287

S.P.22 Coloring muscle weakness “CMW” a new tool in neuromuscular diseases

Corderi, J.R., Dubrovsky, A., Kishnani, P.S., Case, L., Javan, R., Horvath, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

288

S.P.23 Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy

Collins, J., Vandyke, R., Fenchel, M., McCallum, M., Volker, S., Foley, A.R., Muntoni, F., Stehling, F., Schara, U., Rutkowski, A., Deconinck, N., Sawnani, H., Bonnemann, C.G., Amin, R.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

289

S.P.24 24-Hour Holter ECG in type II and III SMA

Bianco, F., Pane, M., Vasco, G., Tiziano, D., Mongini, T., Angelini, C., Soraru, G., Messina, S., Vita, G., Morandi, L., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

290

S.P.25 Sleep disorders in type II SMA

Graziano, A., Palermo, C., Romeo, D.M., Mazzone, E., Baranello, G., Bianco, F., Santis, R. De, Pane, M., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

291

S.P.26 Frequency, nature, severity and progression of cardiac involvement in sarcoglycanopathies

Schade van Westrum, S.M., Dekker, L.R.C., de Voogt, W.G., Wilde, A.A.M., Ginjaar, H.B., de Visser, M., van der Kooi,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

292

S.P.27 Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease

Wahbi, K., Meune, C., Porcher, R., Bécane, H.M., Lazarus, A., Laforet, P., Stojkovic, T., Béhin, A., Radvanyi-Hoffman, H., Eymard, B., Duboc, D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

293

S.P.28 Reported incidence of orthopedic and cardiopulmonary complications in patients with congenital muscle disease

Leach, M.E., Collins, J., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

294

S.P.29 Respiratory dysfunction of dysferlinopathy

Nishikawa, A., Mori-Yoshimura, M., Hayashi, Y., Oya, Y., Nishino, I., Murata, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

295

S.P.42 Effects of a physical exercise programme in adults with myotonic dystrophy type 1 – A one-year follow-up study

Kierkegaard, M., Widén Holmqvist, L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

296

S.P.43 Physical activity decreases fatty infiltration in FSHD, a quantitative muscle MR study

van Engelen, B.G.M., Janssen, B., Voet, N., Nabuurs, C., Padberg, G.W., Geurts, A., Heerschap, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

297

S.P.44 Evaluation of a balance exercise programme in DM 1: A single-subject experimental study with 11 participants

Hammarén, E., Lindberg, C., Kjellby-Wendt, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

298

S.P.45 ENERGETIC, a multidisciplinary self-management group program for reconditioning and managing fatigue

Cup, E., Nab, N., Maas, D., De Roode, M., De Groot, I.J.M., Smeenge, M., Van der Linde, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

299

S.P.46 Rare disease policies: An important perspective for neuromuscular disorders

Lynn, S., Lochmuller, H., Straub, V., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

300

S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

Rahbek, J., Højberg, A., Mahoney, A., Steffensen, B., Rodger, S., Bushby, K., Lochmüller, H., Gramsch, K., Vry, J., Kirschner, J., Antonova, V., Brabek, P., Guergueltcheva, V., Karcagi, V., Herczegfal

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

301

S.P.48 Dysphagia in Duchenne muscular dystrophy: A search for the mechanisms

van den Engel-Hoek, L., Groot, I.J.M. De, Klein, W.M., Pillen, S., Erasmus, C.E., Sie, L.T., De Swart, B.J.M., Geurts, A.C.H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

302

G.P.99 Molecular genetic diagnostics of myotonia congenita and analysis of the effects of mutations in the CLCN1 gene on the structure of the dimeric ClC1 chloride channel

Fajkusova, L., Zı´dková, J., Paclová, D., Marek, J., Voháòka, S., Hermanová, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

303

G.P.100 Biophysical characterization of hClC-1 chloride channel mutations associated with myotonia congenita

Desaphy, J.F., Gramegna, G., Dinardo, M.M., Modoni, A., Lo Monaco, M., Conte Camerino, D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

304

G.P.101 New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Raheem, O., Penttilä, S., Suominen, T., Kaakinen, M., Burge, J., Haworth, A., Sud, R., Schorge, S., Haapasalo, H., Sandell, S., Metsikkö, K., Hanna, M., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

305

G.P.102 SCN4A mutations in Finland

Suominen, T., Sandell, S., Auvinen, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

306

G.P.103 Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients

Voermans, N.C., Laan, A.E., Oosterhof, A., van Kuppevelt, A., Drost, G., Lammens, M., Kamsteeg, E.J., Scotton, C., Gualandi, F., Guglielmi, V., Van den Heuvel, L., Vattemi, G., van Engelen, B.G.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

307

G.P.104 Liver insulin resistance and insulin secretion abnormality in myotonic dystrophy type 1

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

308

G.P.105 Main symptoms at onset and chief complaints at the first visit to clinic of myotonic dystrophy

Ogata, K., Suzuki, M., Yatabe, K., Shigeyama, T., Honma, Y., Momma, K., Noju, A., Takata, M., Tanaka, Y., Nagata, K., Nonaka, I., Tamura, T., Kawai, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

309

G.P.106 Immunohistochemical study of cricopharyngeal muscle in oculopharyngeal muscular dystrophy

Gidaro, T., Perié, S., Lesnik, M., Negroni, E., Oloko, M., st Guily, J. Lacau, Butler-Browne, G., Mouly, V., Trollet, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

310

G.P.107 OPMD or OPDM: How to differentiate?

Wang, M.X., Brammah, S., Flanagan, S., Jahdhami, S., Pamphlett, R., Buckland, M.E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

311

G.P.108 Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

Lassche, S., Stienen, G.J.M., Irving, T.C., van der Maarel, S.M., Padberg, G.W., Granzier, H., Ottenheijm, C.A.C., van Engelen, B.G.M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

312

G.P.109 Elucidation of DUX4 binding site affinities by SELEX-Seq

Domire, J., Coppens, S., Wallace, L., Guckes, S., Harper, S.Q.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

313

G.P.110 The DUX4 promoter is preferentially expressed in FSHD-affected tissues

Wallace, L., Liu, J., Harper, S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 45 KB

english, 2012

314

G.P.111 Exudative retinopathy in facioscapulohumeral muscular dystrophy: When to screen? When to monitor? When to treat?

Fitzsimons, R.B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

315

EMERY-DREIFUSS MUSCULAR DYSTROPHY AND FHL-1 RELATED CONDITIONS - POSTER PRESENTATIONS G.P.119 How mutations in the FHL1 gene lead to severe muscle disease

Wilding, B.R., McGrath, M.J., Mitchell, C.A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

316

G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study

Malfatti, E., Olivé, M., Taratuto, A.L., Richard, P., Bitoun, M., Brochier, G., Laforêt, P., Stojkovic, T., Alexianu, M., Maisonobe, T., Saccoliti, M., Prudhon, B., Lacène, E., Eymard, B., Fardeau, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

317

G.P.121 X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the FHL1 gene

D’Arcy, C.E., Kanellakis, V., Ryan, M.M., McLean, C.A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

318

G.P.122 Heterozygous LmnadelK32 mutant mice showed alterations of the ubiquitin–proteasome system and developed dilated cardiomyopathy

Cattin, M.E., Schlossarek, S., Decostre, V., Maron, S., Skov Jensen, S., Le Bihan, M.C., Bertand, A.T., Crocini, C., Lainé, J., Mougenot, N., Varnous, S., Fromes, Y., Hansen, A., Eschenhagen, T., Carr

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

319

G.P.123 Identification of molecular effects of FHL1 mutations on protein assembly in reducing body myopathy

Kubny, C., Bulst, S., Levin, J., Krause, S., Schoser, B., Giese, A., Walter, M.C., Schessl, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

320

G.P.124 Fiber type disproportion caused by LMNA mutations

Kajino, S., Hayashi, Y.K., Ishigaki, K., Nonaka, I., Osawa, M., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

321

RARE MYOPATHIES AND EXPERIMENTAL APPROACHES - POSTER PRESENTATIONS G.P.125 ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling

Quinlan, K.G.R., Seto, J.T.C., Lek, M., Zheng, F.X., Garton, F., Houweling, P.J., North, K.N.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

322

G.P.126 “Strongman syndrome”: A new autosomal dominant herculean painful myopathy

Al-Bustani, N., Tétreault, M., Provost, S., Bolduc, V., Srour, M., O’Ferrall, E.K., Dubé, M.P., Bouchard, J.P., Ravenscroft, G., Laing, N.G., Bignell, D., Lamont, P.J., Mathieu, J., Brais, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

323

G.P.127 A nation-wide survey for Marinesco-Sjögren syndrome

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

324

G.P.128 The effect of non-severe dorsal burn injury on the contractile properties of fast-twitch hind limb skeletal muscle of the mouse

Bakker, A.J., O’Neill, T.O., Pinniger, G.J., Wood, F.M., Fear, M.W.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

325

G.P.129 Changes of anti-dysferlin immunoreactivity in neurogenic muscle damage

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

326

G.P.130 The effect of water-soluble fullerene in muscle regeneration process of experimental murine skeletal muscle

Ishii, A., Ohkoshi, N., Tamaoka, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

327

G.P.131 Child and family care – Supporting and empowering people living with neuromuscular conditions

Martin, P., McDermott, C.S.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

328

T.O.1 RNAi therapy for LGMD1A

Liu, J., Wallace, L.M., Garwick-Coppens, S.E., Hauser, M.E., Mendell, J.R., Harper, S.Q.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

329

T.O.2 Allele-specific silencing against the ALK2 mutants, R206H and G356D, in fibrodysplasia ossificans progressiva (FOP)

Furuya, H., Takahashi, M., Katagiri, T., Hohjoh, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

330

T.O.3 Tricyclo-DNA: A promising chemistry for the synthesis of antisense molecules for splice-switching approaches in DMD

Goyenvalle, A., Babbs, A., Avril, A., Griffiths, G., Dugovic, B., Davies, K.E., Leumann, C., Garcia, L.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

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english, 2012

331

T.O.4 Development of AAV-gene and protein-based therapies for X-linked myotubular myopathy

Beggs, A.H., Jamet, T., Joubert, R., Furth, M.E., Holder, M.N., Grange, R.W., Lawlor, M.W., Viola, M., Poulard, K., Masurier, C., Martin, S., Rivière, C., Poppante, K., Soker, T., Hammer, C., Vignaud,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

332

T.O.5 Spinal muscular atrophy SMA: SMNs spatial requirement and therapies

Burghes, A., McGovern, V., Porensky, P., Duque, S., Bevan, A., Foust, K., Odermatt, P., Nlend, R., Massoni-Laporte, A., Mitrpant, C., Wilton, S., Schümperli, D., Kaspar, B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

333

T.O.6 Myostatin inhibitor ActIIb rescues atrophy and protects muscle growth signaling pathways in immobilization but not denervation

MacDonald, E.M., Simmers, J.L., Andres-Mateos, E., Mejias-Estevez, R.M., Lee, S.J., Cohn, R.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

334

T.O.7 Blockade of Myostatin/ActRIIB signalling induces skeletal muscle fatigability and exercise intolerance

Relizani, K., Mouisel, E., Fortin, D., Vignaud, A., Garcia, L., Ventura-Clapier, R., Schuelke, M., Amthor, H.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

335

T.O.8 Age-dependent effects of angiotensin II blockade on disuse atrophy

Burks, T.N., Lucas, O., Andres-Mateos, E., Marx, R., Simmers, J.L., Walston, J.D., Cohn, R.D.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

336

Author Index

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 145 KB

english, 2012

337

Welcome to the World Muscle Society Congress in Perth – Presidents Welcome

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

338

Programme of the 17th WMS Congress – 2012

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 473 KB

english, 2012

339

17th WMS Congress – 2012 – Programme (Summary)

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 108 KB

english, 2012

340

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

341

Title

Journal:

Neuromuscular Disorders

Year:

2012

File:

PDF, 488 KB

2012

342

G.P.8 Expression analysis of α-dystroglycan glycosyltransferases in distinct murine muscular dystrophies models

Ayub-Guerrieri, D., Priscila Calyjur, P., Martins, P.C.M., Onofre-Oliveira, P.C.G., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

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