nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Author Index
|
|
|
2010 |
20 |
9-10 |
p. 681-691 11 p. |
artikel |
2 |
C.I.2 Defective glycosylation in congenital muscular dystrophies: From glycobiology to α-dystroglycanopathies
|
Endo, T. |
|
2010 |
20 |
9-10 |
p. 596- 1 p. |
artikel |
3 |
C.I.1 Fukuyama congenital muscular dystrophy – An overview
|
Fukuyama, Y. |
|
2010 |
20 |
9-10 |
p. 596- 1 p. |
artikel |
4 |
C.I.4 Molecular therapeutic approaches to the extracellular matrix-related congenital muscular dystrophies
|
Bönnemann, C.G. |
|
2010 |
20 |
9-10 |
p. 597- 1 p. |
artikel |
5 |
C.I.3 Overview of congenital muscular dystrophies
|
Topaloglu, H. |
|
2010 |
20 |
9-10 |
p. 596-597 2 p. |
artikel |
6 |
D.I.3 Clinical and molecular aspects of desminopathies
|
Schröder, R. |
|
2010 |
20 |
9-10 |
p. 635- 1 p. |
artikel |
7 |
D.I.1 Distal myopathies
|
Udd, B. |
|
2010 |
20 |
9-10 |
p. 635- 1 p. |
artikel |
8 |
D.I.2 Myosin myopathies and distal arthrogryposis syndromes
|
Oldfors, A. |
|
2010 |
20 |
9-10 |
p. 635- 1 p. |
artikel |
9 |
D.I.4 Sweetening the therapy for distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy
|
Nishino, I. |
|
2010 |
20 |
9-10 |
p. 636- 1 p. |
artikel |
10 |
Editorial Board
|
|
|
2010 |
20 |
9-10 |
p. IFC- 1 p. |
artikel |
11 |
O.12 A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6)
|
Sambuughin, N. |
|
2010 |
20 |
9-10 |
p. 638- 1 p. |
artikel |
12 |
O.11 A novel congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
|
Mitsuhashi, S. |
|
2010 |
20 |
9-10 |
p. 637-638 2 p. |
artikel |
13 |
O.6 Beyond counting copies: direct visualization of copy number variations in a specific genomic context to explore facio-scapulo-humeral dystrophy (FSHD)
|
Nguyen, K. |
|
2010 |
20 |
9-10 |
p. 599- 1 p. |
artikel |
14 |
O.16 Current progress and preliminary results with the systemic administration trial of AVI-4658, a novel phosphorodiamidate morpholino oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD)
|
Shrewsbury, S.B. |
|
2010 |
20 |
9-10 |
p. 639-640 2 p. |
artikel |
15 |
O.17 Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
|
Wein, N. |
|
2010 |
20 |
9-10 |
p. 640- 1 p. |
artikel |
16 |
O.14 Exon exchange approach to repair Duchenne dystrophin transcripts
|
Lorain, S. |
|
2010 |
20 |
9-10 |
p. 639- 1 p. |
artikel |
17 |
O.2 Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
|
Lim, B.C.L. |
|
2010 |
20 |
9-10 |
p. 597-598 2 p. |
artikel |
18 |
O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease
|
Bindoff, L.A. |
|
2010 |
20 |
9-10 |
p. 680- 1 p. |
artikel |
19 |
O.20 Human disease caused by loss of fast IIa myosin heavy chain due to MYH2 mutations
|
Tajsharghi, H.T. |
|
2010 |
20 |
9-10 |
p. 679-680 2 p. |
artikel |
20 |
O.19 Inactivation of glycogen synthesis priming due to a missense mutation in glycogenin-1 – A new disease mechanism
|
Moslemi, A.-R. |
|
2010 |
20 |
9-10 |
p. 679- 1 p. |
artikel |
21 |
O.18 Intravenous injection of SMN1-expressing self-complementary AAV9 rescues severe type I SMA mice
|
Dominguez, E. |
|
2010 |
20 |
9-10 |
p. 640- 1 p. |
artikel |
22 |
O.4 Mouse model of LMNA-congenital muscular dystrophy shows severe skeletal and cardiac muscle maturation defects associated with major metabolic defects leading to early death
|
Bertrand, A.T. |
|
2010 |
20 |
9-10 |
p. 598- 1 p. |
artikel |
23 |
O.7 Novel approach to sialic acid therapy in DMRV/hIBM mouse model
|
Malicdan, M.C. |
|
2010 |
20 |
9-10 |
p. 636- 1 p. |
artikel |
24 |
O.1 Novel O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding: implications for congenital muscular dystrophy
|
Moriguchi, T. |
|
2010 |
20 |
9-10 |
p. 597- 1 p. |
artikel |
25 |
O.9 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
|
Bolduc, V. |
|
2010 |
20 |
9-10 |
p. 637- 1 p. |
artikel |
26 |
O.3 Satellite cell loss is the pathomechanism leading to muscle atrophy in selenoprotein N deficiency
|
Castets, P. |
|
2010 |
20 |
9-10 |
p. 598- 1 p. |
artikel |
27 |
O.5 Skeletal muscle-specific calpain, p94/calpain 3, dynamically distributes in skeletal muscle cells to adapt to physical stress, defects of which cause muscular dystrophy
|
Ojima, K. |
|
2010 |
20 |
9-10 |
p. 598-599 2 p. |
artikel |
28 |
O.22 Strongly impaired muscle activity in mice lacking aquaporin-4 water channel
|
Basco, D. |
|
2010 |
20 |
9-10 |
p. 680- 1 p. |
artikel |
29 |
O.13 Systemic delivery of AAV vectors to large animal models for DMD
|
Chamberlain, J.S.C. |
|
2010 |
20 |
9-10 |
p. 638-639 2 p. |
artikel |
30 |
O.10 TMEM43 mutations in Emery–Dreifuss muscular dystrophy-like patients cause dysfunctions of a nuclear membrane protein, LUMA
|
Liang, W.C. |
|
2010 |
20 |
9-10 |
p. 637- 1 p. |
artikel |
31 |
O.8 Treatment of hyposialylation in mouse model of DMRV/hIBM with novel synthetic sugar compounds
|
Tokutomi, T. |
|
2010 |
20 |
9-10 |
p. 636- 1 p. |
artikel |
32 |
O.15 24 week follow-up data from a phase I/IIa extension study of PRO051/GSK2402968 in subjects with Duchenne muscular dystrophy
|
Goemans, N. |
|
2010 |
20 |
9-10 |
p. 639- 1 p. |
artikel |
33 |
P3.29 AAV-mediated augmentation of SMN levels for spinal muscular atrophy
|
Cheng, S.H. |
|
2010 |
20 |
9-10 |
p. 650- 1 p. |
artikel |
34 |
P3.02 AAV-U7snRNA mediated multi exon-skipping for Duchenne muscular dystrophy
|
Goyenvalle, A. |
|
2010 |
20 |
9-10 |
p. 641- 1 p. |
artikel |
35 |
P1.02 Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency
|
Wood, A.J. |
|
2010 |
20 |
9-10 |
p. 599-600 2 p. |
artikel |
36 |
P2.25 A case of mucolipidosis type II presented with early onset motor developmental delay, cardiomyopathy and vacuolar changes of muscles
|
Chae, J.H. |
|
2010 |
20 |
9-10 |
p. 626- 1 p. |
artikel |
37 |
P2.24 A case of X-linked myopathy with excessive autophagy: the first case in Japan
|
Kurashige, T. |
|
2010 |
20 |
9-10 |
p. 625- 1 p. |
artikel |
38 |
P2.27 Accumulation of poly-ubiqutinated protein and beta-amyloid is associated with rimmed vacuoles in Becker muscular dystrophy
|
Momma, K. |
|
2010 |
20 |
9-10 |
p. 626- 1 p. |
artikel |
39 |
P4.67 A clinical and histopathological study of patients with mitochondrial abnormalities
|
Karasoy, H. |
|
2010 |
20 |
9-10 |
p. 679- 1 p. |
artikel |
40 |
P1.54 Acute respiratory insufficiency in undefined necrotising myopathy
|
Reimann, J. |
|
2010 |
20 |
9-10 |
p. 617- 1 p. |
artikel |
41 |
P3.11 Adenoviral mediated MyoD transduction confers migratory potential to human primary fibroblasts
|
Fujii, I.F. |
|
2010 |
20 |
9-10 |
p. 644- 1 p. |
artikel |
42 |
P3.47 Administration of Losartan improves skeletal muscle repair in mice with sarcopenia
|
Burks, T.N. |
|
2010 |
20 |
9-10 |
p. 655- 1 p. |
artikel |
43 |
P1.28 Adult onset limb-girdle muscular dystrophy 2I in a Chinese family with novel compound heterozygous mutation of the FKRP gene
|
Hong, D.J. |
|
2010 |
20 |
9-10 |
p. 608-609 2 p. |
artikel |
44 |
P2.43 A dysphagia study in patients with inclusion body myositis
|
Murata, K. |
|
2010 |
20 |
9-10 |
p. 631-632 2 p. |
artikel |
45 |
P1.32 A genetic variant within caveolin-3 protects against statin-induced myopathy
|
Knoblauch, H. |
|
2010 |
20 |
9-10 |
p. 610- 1 p. |
artikel |
46 |
P1.35 Amphiphysin 2 (BIN1) and triad defects in several forms of centronuclear myopathies
|
Toussaint, A. |
|
2010 |
20 |
9-10 |
p. 611- 1 p. |
artikel |
47 |
P4.47 Amylopectin-like polysaccharide storage myopathy mimicking Charcot–Marie–Tooth disease
|
Craenhals, A. |
|
2010 |
20 |
9-10 |
p. 672- 1 p. |
artikel |
48 |
P2.34 A myotonia caused by aberrant splicing of voltage-gated sodium channel due to an intronic mutation of SCN4A
|
Takahashi, M.P. |
|
2010 |
20 |
9-10 |
p. 628-629 2 p. |
artikel |
49 |
P2.09 A non-viral, GNE-lipoplex treatment to correct sialylation defects in hereditary inclusion body myopathy (HIBM)
|
Yardeni, T. |
|
2010 |
20 |
9-10 |
p. 620-621 2 p. |
artikel |
50 |
P1.34 A novel homozygous mutation of the selenoprotein gene causes rigid spine syndrome with muscular dystrophy
|
Izawa, N.I. |
|
2010 |
20 |
9-10 |
p. 610-611 2 p. |
artikel |
51 |
P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features
|
Avila-Smirnow, D. |
|
2010 |
20 |
9-10 |
p. 623-624 2 p. |
artikel |
52 |
P4.59 A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis
|
Alston, C.L. |
|
2010 |
20 |
9-10 |
p. 676- 1 p. |
artikel |
53 |
P2.35 A novel mutation of CLCN1(G276C) with variable phenotype of Thomsen disease in a Korean family
|
Suh, G. |
|
2010 |
20 |
9-10 |
p. 629- 1 p. |
artikel |
54 |
P4.58 Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells
|
Sanaker, P.S. |
|
2010 |
20 |
9-10 |
p. 676- 1 p. |
artikel |
55 |
P3.01 Antisense RNA/ethylene-bridged nucleic acids chimera induces exon 45 skipping and restores dystrophin expression in myocytes of Duchenne muscular dystrophy
|
Yagi, M. |
|
2010 |
20 |
9-10 |
p. 640-641 2 p. |
artikel |
56 |
P3.18 A Phase 1 multiple ascending dose study to assess the pharmacodynamic effects of ACE-031, an inhibitor of negative muscle regulators, in healthy volunteers
|
Borgstein, N.G. |
|
2010 |
20 |
9-10 |
p. 646- 1 p. |
artikel |
57 |
P2.47 A polymyositis patient with anti-signal recognition particle (SRP) antibody refractory to corticosteroid treatment
|
Shioya, A. |
|
2010 |
20 |
9-10 |
p. 633- 1 p. |
artikel |
58 |
P4.18 Asphyxia in a Duchenne muscular dystrophy patient due to tracheal compression by brachiocephalic artery
|
Ozasa, S. |
|
2010 |
20 |
9-10 |
p. 663-664 2 p. |
artikel |
59 |
P4.26 Assessing muscle pathology by MRI in LGMD2I
|
Willis, T.A. |
|
2010 |
20 |
9-10 |
p. 666- 1 p. |
artikel |
60 |
P4.39 Assessment of tongue pressure during swallowing in patients with muscular dystrophies
|
Matsumura, T. |
|
2010 |
20 |
9-10 |
p. 670- 1 p. |
artikel |
61 |
P1.10 A survey of collagen VI myopathies at Hôpital Pitié-Salpêtrière
|
Deconinck, N. |
|
2010 |
20 |
9-10 |
p. 602- 1 p. |
artikel |
62 |
P4.24 Asymmetry of skeletal muscle involvement in facioscapulohumeral muscular dystrophy: a neuroimaging study
|
Sugie, K. |
|
2010 |
20 |
9-10 |
p. 665- 1 p. |
artikel |
63 |
P1.55 A 7-year-old girl with proximal upper limb involvement of benign monomelic amyotrophy: case report
|
Yýlmaz, O. |
|
2010 |
20 |
9-10 |
p. 617- 1 p. |
artikel |
64 |
P4.11 Bone strength in boys with Duchenne muscular dystrophy (DMD): a longitudinal study
|
Crabtree, N. |
|
2010 |
20 |
9-10 |
p. 661- 1 p. |
artikel |
65 |
P3.39 Ca2+-permeable channel TRPV2 as a promising therapeutic target for muscular dystrophy and cardiomyopathy
|
Iwata, Y. |
|
2010 |
20 |
9-10 |
p. 653- 1 p. |
artikel |
66 |
P4.07 Cardiac involvement in Egyptian Duchenne and Becker muscular dystrophy carriers
|
El Sherif, R. |
|
2010 |
20 |
9-10 |
p. 660- 1 p. |
artikel |
67 |
P1.05 Cardiomyopathy form of α-dystroglycanopathy caused by FKTN mutation in Japan
|
Matsumoto, H. |
|
2010 |
20 |
9-10 |
p. 600-601 2 p. |
artikel |
68 |
P4.37 Characterization of pulmonary function in patients with Duchenne muscular dystrophy
|
Finkel, R.S. |
|
2010 |
20 |
9-10 |
p. 669- 1 p. |
artikel |
69 |
P3.05 Checking exon-skipping events in candidates for clinical trials of morpholino
|
Nakano, S. |
|
2010 |
20 |
9-10 |
p. 642- 1 p. |
artikel |
70 |
P4.66 Childhood-onset progressive dystonia associated with m.14459G>A mutation in the mitochondrial DNA: a case report and review of the literature
|
Koide, A. |
|
2010 |
20 |
9-10 |
p. 678-679 2 p. |
artikel |
71 |
P1.07 Clinical and electroencephalographic analysis in patients with Fukuyama congenital muscular dystrophy
|
Sato, T.S. |
|
2010 |
20 |
9-10 |
p. 601- 1 p. |
artikel |
72 |
P2.44 Clinical and histopathological characteristics of inclusion body myositis in Korean patients
|
Hong, J.M. |
|
2010 |
20 |
9-10 |
p. 632- 1 p. |
artikel |
73 |
P2.42 Clinical and imaging features of inclusion body myositis
|
Hosaka, A. |
|
2010 |
20 |
9-10 |
p. 631- 1 p. |
artikel |
74 |
P2.02 Clinical and molecular genetic analysis of 13 Chinese patients with suspected hereditary inclusion body myopathy
|
Li, H. |
|
2010 |
20 |
9-10 |
p. 618-619 2 p. |
artikel |
75 |
P2.38 Clinical course of a 19-year-old boy with acetylcholinesterase deficiency
|
Shiraishi, K.A.Z. |
|
2010 |
20 |
9-10 |
p. 630- 1 p. |
artikel |
76 |
P4.64 Clinical experience with l-arginine treatment in MELAS syndrome
|
Ishii, A. |
|
2010 |
20 |
9-10 |
p. 678- 1 p. |
artikel |
77 |
P1.08 Clinical features and swallowing test in two very mild Fukuyama type congenital muscular dystrophy (FCMD)
|
Furuya, H. |
|
2010 |
20 |
9-10 |
p. 601-602 2 p. |
artikel |
78 |
P1.09 Clinical features in collagen VI deficiency
|
Colomer, J. |
|
2010 |
20 |
9-10 |
p. 602- 1 p. |
artikel |
79 |
P1.20 Clinical features of limb-girdle muscular dystrophy type 2B with the c.2997G>T mutation
|
Takahashi, T. |
|
2010 |
20 |
9-10 |
p. 606- 1 p. |
artikel |
80 |
P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy
|
D’Amico, A. |
|
2010 |
20 |
9-10 |
p. 626- 1 p. |
artikel |
81 |
P4.65 Clinical, pathological and radiological survey of two patients in a Chinese family with Leigh syndrome
|
Hu, J. |
|
2010 |
20 |
9-10 |
p. 678- 1 p. |
artikel |
82 |
P4.14 Combination of steroids and ischial weight-bearing KAFOs in DMD prolongs ambulation past 20 years of age — A case report
|
Pardo, A.C. |
|
2010 |
20 |
9-10 |
p. 662- 1 p. |
artikel |
83 |
P4.28 Comparative analysis of clinic status, pathology and muscle MRI: 16 cases of distal myopathies/muscular dystrophies
|
Hu, J. |
|
2010 |
20 |
9-10 |
p. 666-667 2 p. |
artikel |
84 |
P3.30 Comparative study of antisense oligonucleotides targeting intronic splicing modulation sites for SMN2 exon 7 inclusion as therapy in spinal muscular atrophy
|
Pao, P.W. |
|
2010 |
20 |
9-10 |
p. 650- 1 p. |
artikel |
85 |
P3.12 Concurrent administration of prednisolone and peptide conjugated PMOs is not contraindicated in the mdx mouse
|
Fletcher, S. |
|
2010 |
20 |
9-10 |
p. 644- 1 p. |
artikel |
86 |
P2.23 Congenital form of X-linked myopathy with excessive autophagy associated with VMA21 mutation
|
Ikeda, C. |
|
2010 |
20 |
9-10 |
p. 625- 1 p. |
artikel |
87 |
P2.31 Congenital myotonic dystrophy: results of the Canadian surveillance and cohort study
|
Campbell, C.G.N. |
|
2010 |
20 |
9-10 |
p. 627-628 2 p. |
artikel |
88 |
P3.42 Contribution of reactive oxygen species generated through NADPH oxidase to abnormal calcium signals in dystrophic skeletal muscle cells: involvement of phosphatidylinositol-3-kinase and protein kinase C
|
Ruegg, U.T. |
|
2010 |
20 |
9-10 |
p. 654- 1 p. |
artikel |
89 |
P3.54 Creatine for treating muscle disorders: meta-analysis of randomised controlled trials
|
Kley, R.A. |
|
2010 |
20 |
9-10 |
p. 657-658 2 p. |
artikel |
90 |
P3.15 Crosstalk between myostatin and IGF-1 signalling pathways during myoblast proliferation and differentiation
|
Valdes, J.A. |
|
2010 |
20 |
9-10 |
p. 645- 1 p. |
artikel |
91 |
P4.40 Database of wards for patients with muscular dystrophy in Japan
|
Saito, T. |
|
2010 |
20 |
9-10 |
p. 670- 1 p. |
artikel |
92 |
P3.19 Decrease of sarcolemmal nNOS as a molecular marker of muscle atrophy in inherited and acquired forms of myopathy
|
Simmers, J.L. |
|
2010 |
20 |
9-10 |
p. 646-647 2 p. |
artikel |
93 |
P4.04 Deletion mutation analysis of dystrophin gene in Vietnamese DMD patients – identification of female carriers in their families by capillary electrophoresis
|
Tran, K.V. |
|
2010 |
20 |
9-10 |
p. 659- 1 p. |
artikel |
94 |
P2.19 Desmin-related myopathies: Effects of a cyclic mechanical stress on the aggregation of desmin in transfected myoblasts
|
Leccia, E. |
|
2010 |
20 |
9-10 |
p. 624- 1 p. |
artikel |
95 |
P3.38 Developing AMPA receptor aptamers as new drug candidates for ALS
|
Niu, L. |
|
2010 |
20 |
9-10 |
p. 652-653 2 p. |
artikel |
96 |
P1.40 dHLPC for mutation analysis of β- and α(slow)-tropomyosins (TPM2 and TPM3)
|
Lehtokari, V.L. |
|
2010 |
20 |
9-10 |
p. 612- 1 p. |
artikel |
97 |
P1.37 DHPR α1S subunit controls skeletal muscle mass and morphogenesis
|
Pietri-Rouxel, F. |
|
2010 |
20 |
9-10 |
p. 611-612 2 p. |
artikel |
98 |
P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies
|
Jackaman, C. |
|
2010 |
20 |
9-10 |
p. 634- 1 p. |
artikel |
99 |
P1.03 Disruption of dystroglycan–pikachurin interaction underlies the molecular pathogenesis of eye abnormalities in dystroglycanopathy
|
Kanagawa, M. |
|
2010 |
20 |
9-10 |
p. 600- 1 p. |
artikel |
100 |
P2.06 Distal myopathy with rimmed vacuoles presenting with slow progression
|
Sakai, Y. |
|
2010 |
20 |
9-10 |
p. 620- 1 p. |
artikel |
101 |
P2.04 DMRV and GNE mutations: genotype–phenotype correlation in 100 Japanese patients
|
Tomimitsu, H. |
|
2010 |
20 |
9-10 |
p. 619- 1 p. |
artikel |
102 |
P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders
|
Cossée, M. |
|
2010 |
20 |
9-10 |
p. 604- 1 p. |
artikel |
103 |
P3.28 Do factors released from dystrophic muscle enhance myogenic differentiation of mesenchymal stem cells from human umbilical cord tissue?
|
Secco, M. |
|
2010 |
20 |
9-10 |
p. 649- 1 p. |
artikel |
104 |
P3.46 Doxorubicin affects calcium handling in dystrophic skeletal muscle cells
|
Ismail, H.M. |
|
2010 |
20 |
9-10 |
p. 655- 1 p. |
artikel |
105 |
P2.07 Dual observation of single myofibers provide clue on dynamics of protein accumulation in distal myopathy with rimmed vacuoles (DMRV)-hereditary inclusion body myopathy (hIBM) mouse model
|
Noguchi, S. |
|
2010 |
20 |
9-10 |
p. 620- 1 p. |
artikel |
106 |
P4.10 Duchenne/Becker in the family: are women aware of the potential risks?
|
Helderman-van den Enden, A.T.J. |
|
2010 |
20 |
9-10 |
p. 661- 1 p. |
artikel |
107 |
P1.18 Dysferlin peptides elicit functional recovery in dysferlin deficient muscular dystrophy
|
Schoewel, V. |
|
2010 |
20 |
9-10 |
p. 605- 1 p. |
artikel |
108 |
P4.56 Early and severe axonal motor neuropathy and cardiomyopathy in a patient with mitochondrial trifunctional protein deficiency
|
Osorio, A.N. Nascimento |
|
2010 |
20 |
9-10 |
p. 675- 1 p. |
artikel |
109 |
P4.16 Effects of different exercises on hemodynamic responses in Duchenne muscular dystrophy
|
Alemdaroglu, I. |
|
2010 |
20 |
9-10 |
p. 663- 1 p. |
artikel |
110 |
P4.51 Effects of enzyme replacement therapy in five patients with advanced late-onset glycogen storage disease type 2: a 2-year follow-up study
|
Furusawa, Y.F. |
|
2010 |
20 |
9-10 |
p. 674- 1 p. |
artikel |
111 |
P4.17 Effects of exercises on muscle strength and fatigue level in Duchenne muscular dystrophy
|
Alemdaroglu, I. |
|
2010 |
20 |
9-10 |
p. 663- 1 p. |
artikel |
112 |
P1.56 Effects of physiotherapy and occupational therapy in Winchester syndrome: a case report
|
Yýlmaz, O. |
|
2010 |
20 |
9-10 |
p. 617-618 2 p. |
artikel |
113 |
P4.09 Electrocardiographic abnormalities in Duchenne muscular dystrophy prior to the onset of cardiac dysfunction
|
James, J. |
|
2010 |
20 |
9-10 |
p. 661- 1 p. |
artikel |
114 |
P2.48 Evaluation of the ELISA method for anti-SRP antibody detection
|
Hashimoto, M. |
|
2010 |
20 |
9-10 |
p. 633- 1 p. |
artikel |
115 |
P3.06 Evaluation of the truncated products of exon and multiple exon skipping in DMD therapy
|
Foster, K. |
|
2010 |
20 |
9-10 |
p. 642- 1 p. |
artikel |
116 |
P3.32 Exon/intron 7 inclusion: an alternative mode of splice intervention in spinal muscular atrophy fibroblasts
|
Mitrpant, C. |
|
2010 |
20 |
9-10 |
p. 650-651 2 p. |
artikel |
117 |
P1.51 Exon-level expression profiling in FSHD
|
Arashiro, P. |
|
2010 |
20 |
9-10 |
p. 616- 1 p. |
artikel |
118 |
P1.29 Expression analysis of N-terminal α-dystroglycan in muscle diseases
|
Henderson, M. |
|
2010 |
20 |
9-10 |
p. 609- 1 p. |
artikel |
119 |
P1.33 Expression of cavin family members in skeletal muscle
|
Hayashi, Y.K. |
|
2010 |
20 |
9-10 |
p. 610- 1 p. |
artikel |
120 |
P3.21 Expression of microRNA in muscle resident stem cells
|
Motohashi, N. |
|
2010 |
20 |
9-10 |
p. 647- 1 p. |
artikel |
121 |
P2.14 Familial myopathy with early respiratory failure and sharing of a large haplotype at chromosome 2q31
|
Ohlsson, M. |
|
2010 |
20 |
9-10 |
p. 622- 1 p. |
artikel |
122 |
P2.21 Filamin C is required for the maintenance of sarcomere structure in medaka
|
Mitsuhashi, H. |
|
2010 |
20 |
9-10 |
p. 624- 1 p. |
artikel |
123 |
P3.52 FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)
|
Guglieri, M. |
|
2010 |
20 |
9-10 |
p. 657- 1 p. |
artikel |
124 |
P1.12 Frequency of genomic deletion mutations in collagen VI myopathies
|
Butterfield, R.J. |
|
2010 |
20 |
9-10 |
p. 603- 1 p. |
artikel |
125 |
P4.25 Functional outcome measures in limb girdle muscular dystrophy 2I: Correlations with MRI
|
Eagle, M. |
|
2010 |
20 |
9-10 |
p. 665-666 2 p. |
artikel |
126 |
P3.36 Gene conversion between SMN1 and SMN2 in normals, carriers and spinal muscular atrophy patients
|
Chen, T.H. |
|
2010 |
20 |
9-10 |
p. 652- 1 p. |
artikel |
127 |
P1.46 Genetic, clinical, and pathological features of congenital fiber type disproportion in Japan
|
Tominaga, K. |
|
2010 |
20 |
9-10 |
p. 614- 1 p. |
artikel |
128 |
P1.21 Genetic mutations in dysferlinopathy in a Malaysian population
|
Looi, R.Y. |
|
2010 |
20 |
9-10 |
p. 606- 1 p. |
artikel |
129 |
P1.31 Genetic mutations in sarcoglycanopathies in a Malaysian population
|
Looi, R.Y. |
|
2010 |
20 |
9-10 |
p. 609-610 2 p. |
artikel |
130 |
P1.53 GLUT4 expression in early critical illness myopathy
|
Schneider, J. |
|
2010 |
20 |
9-10 |
p. 616-617 2 p. |
artikel |
131 |
P2.08 GNE is involved in the early development of skeletal and cardiac muscles
|
Milman, I. |
|
2010 |
20 |
9-10 |
p. 620- 1 p. |
artikel |
132 |
P3.44 Green tea polyphenols enhance the motor performance of the mdx 5Cv dystrophic mouse and normalize calcium influx in muscle fibres
|
Dorchies, O.M. |
|
2010 |
20 |
9-10 |
p. 654-655 2 p. |
artikel |
133 |
P4.13 Growth hormone improves growth in Duchenne muscular dystrophy with steroid-induced growth failure
|
Collins, J.J. |
|
2010 |
20 |
9-10 |
p. 662- 1 p. |
artikel |
134 |
P2.52 High nonspecific esterase activity may be a good marker for vascular involvement in inflammatory myopathies
|
Tsuburaya, R. |
|
2010 |
20 |
9-10 |
p. 634-635 2 p. |
artikel |
135 |
P2.36 Immunohistochemical diagnostic method for chloride channel mutated myotonia
|
Raheem, O. |
|
2010 |
20 |
9-10 |
p. 629- 1 p. |
artikel |
136 |
P4.15 Improvement of the pulmonary functions after the use of steroids in Duchenne muscular dystrophy patients from different regions of Brazil
|
Godoy, A.J. |
|
2010 |
20 |
9-10 |
p. 662-663 2 p. |
artikel |
137 |
P2.28 Increase of Akt pathway activity in myotonic dystrophy
|
Zhang, W. |
|
2010 |
20 |
9-10 |
p. 627- 1 p. |
artikel |
138 |
P3.08 Induction of dystrophin in DMD patients by antisense oligonucleotide AVI-4658 restores the dystrophin glycoprotein complex
|
Cirak, S. |
|
2010 |
20 |
9-10 |
p. 643- 1 p. |
artikel |
139 |
P2.11 Induction of GNE in myofibers after muscle injury
|
Nakamura, K. |
|
2010 |
20 |
9-10 |
p. 621- 1 p. |
artikel |
140 |
P1.52 Infantile facioscapulohumeral muscular dystrophy with a very short 4q35 fragment: additional features
|
Chen, T.H. |
|
2010 |
20 |
9-10 |
p. 616- 1 p. |
artikel |
141 |
P2.40 Infantile onset anti-MUSK positive myasthenia gravis: report of two cases
|
Duman, O. |
|
2010 |
20 |
9-10 |
p. 631- 1 p. |
artikel |
142 |
P1.22 Influence of gender and mutation type on age of clinical onset in dysferlinopathy
|
Williams, B. |
|
2010 |
20 |
9-10 |
p. 606-607 2 p. |
artikel |
143 |
P2.17 Intranuclear rods in three Spanish families with ZASPopathy
|
Olive, M. |
|
2010 |
20 |
9-10 |
p. 623- 1 p. |
artikel |
144 |
P2.20 In vivo electroporation is an effective method to reproduce pathological changes in myofibrillar myopathy
|
Keduka, E. |
|
2010 |
20 |
9-10 |
p. 624- 1 p. |
artikel |
145 |
P3.41 In vivo studies on the effects of EGCG, a major polyphenol in green tea, on a mouse model of Duchenne muscular dystrophy
|
Nakae, Y. |
|
2010 |
20 |
9-10 |
p. 653-654 2 p. |
artikel |
146 |
P3.17 Lack of myostatin impairs oxidative metabolism and exercise performance
|
Mouisel, E. |
|
2010 |
20 |
9-10 |
p. 646- 1 p. |
artikel |
147 |
P2.22 Lamp-1 overexpression rescues cardiomyopathy in Lamp-2 deficient cells by correcting cellular lysosomal function
|
Honda, S. |
|
2010 |
20 |
9-10 |
p. 624-625 2 p. |
artikel |
148 |
P1.11 Large genomic deletions as a novel type of mutation in Ullrich CMD
|
Foley, A.R. |
|
2010 |
20 |
9-10 |
p. 602-603 2 p. |
artikel |
149 |
P1.30 Late-onset limb girdle muscular dystrophy type 2D (LGMD2D)
|
Ura, S.U. |
|
2010 |
20 |
9-10 |
p. 609- 1 p. |
artikel |
150 |
P3.10 Lentiviral vector mediated delivery of full-length dystrophin for gene therapy of muscular dystrophy
|
Kimura, E. |
|
2010 |
20 |
9-10 |
p. 643-644 2 p. |
artikel |
151 |
P1.17 Limb-girdle muscular dystrophies in Czech Republic
|
Hermanova, M. |
|
2010 |
20 |
9-10 |
p. 605- 1 p. |
artikel |
152 |
P3.35 Linkage of a new type of adult-onset dominant spinal motor neuronopathy to chromosome 22
|
Penttilä, S. |
|
2010 |
20 |
9-10 |
p. 652- 1 p. |
artikel |
153 |
P3.26 Local and systemic transplantation of human adipose-derived stem cells into the GRMD dog
|
Vieira, N.M. |
|
2010 |
20 |
9-10 |
p. 649- 1 p. |
artikel |
154 |
P3.43 Long term administration of green tea polyphenols and pentoxifylline to mdx 5Cv dystrophic mice: differential effects on muscle function and kyphosis
|
Dorchies, O.M. |
|
2010 |
20 |
9-10 |
p. 654- 1 p. |
artikel |
155 |
P2.05 Long-term measurement of muscle strength in distal myopathy with rimmed vacuoles (DMRV)
|
Oya, Y.O. |
|
2010 |
20 |
9-10 |
p. 619- 1 p. |
artikel |
156 |
P2.37 Long term prognosis of congenital myasthenic syndromes (CMS): The French CMS network experience
|
Eymard, B. |
|
2010 |
20 |
9-10 |
p. 629-630 2 p. |
artikel |
157 |
P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
|
Tuppen, H.A.L. |
|
2010 |
20 |
9-10 |
p. 677- 1 p. |
artikel |
158 |
P3.48 Losartan improves muscle strength and ameliorates fibrosis in the dy2J/dy2J mouse model of merosin deficient congenital muscular dystrophy
|
Elbaz, M. |
|
2010 |
20 |
9-10 |
p. 656- 1 p. |
artikel |
159 |
P4.29 Magnetic resonance identifies muscle wasting associated with fatty infiltration and loss of strength over an 18-month period in type 1 myotonic dystrophy
|
Larose, E. |
|
2010 |
20 |
9-10 |
p. 667- 1 p. |
artikel |
160 |
P4.31 Measurement of the muscle volume in patients with muscular dystrophy using muscle CT
|
Nakayama, T.N. |
|
2010 |
20 |
9-10 |
p. 667- 1 p. |
artikel |
161 |
P4.63 MELAS presenting marked brain atrophy and hypertrophic cardiomyopathy: report of an autopsy case
|
Yoshimura, N. |
|
2010 |
20 |
9-10 |
p. 677-678 2 p. |
artikel |
162 |
P4.62 Mitochondrial cytopathy presenting with late onset irritative myopathy with acute respiratory failure: The important role of muscle biopsy
|
Dejthevaporn, C. |
|
2010 |
20 |
9-10 |
p. 677- 1 p. |
artikel |
163 |
P4.44 mitoNET – German network for mitochondrial disorders
|
Klopstock, T. |
|
2010 |
20 |
9-10 |
p. 671- 1 p. |
artikel |
164 |
P4.02 MLPA is a useful tool for analyzing fragmented DNA samples from dried umbilical cord
|
Minami, N. |
|
2010 |
20 |
9-10 |
p. 658- 1 p. |
artikel |
165 |
P3.45 Modulation of SERCA in dystrophic mice muscle – role of oxidative stress
|
Strosova, M.K. |
|
2010 |
20 |
9-10 |
p. 655- 1 p. |
artikel |
166 |
P4.55 Molecular genetic analysis in 45 patients with muscle carnitine palmitoyltransferase (CPT) II deficiency
|
Joshi, P.R. |
|
2010 |
20 |
9-10 |
p. 675- 1 p. |
artikel |
167 |
P4.46 Molecular pathogenesis of a new glycogenosis caused by a mutation in glycogenin-1
|
Nilsson, J. |
|
2010 |
20 |
9-10 |
p. 672- 1 p. |
artikel |
168 |
P3.20 Mouse and human skeletal muscle cells differentiate in a temperature-dependent manner
|
Shima, A. |
|
2010 |
20 |
9-10 |
p. 647- 1 p. |
artikel |
169 |
P4.21 MR imaging and spectroscopy of the brain in DMD
|
Straathof, C.S.M. |
|
2010 |
20 |
9-10 |
p. 664- 1 p. |
artikel |
170 |
P1.57 Multidisiplinary approach in a case with congenital cranial nerve dysplasia
|
Demir, N. |
|
2010 |
20 |
9-10 |
p. 618- 1 p. |
artikel |
171 |
P4.19 Multiple aortic aneurysms in a patient with Becker muscular dystrophy
|
Yoshioka, M. |
|
2010 |
20 |
9-10 |
p. 664- 1 p. |
artikel |
172 |
P4.45 Muscle glycogen storage disease type 0b presenting recurrent post-exercise loss of consciousness with weakness and myalgia
|
Sukigara, S. |
|
2010 |
20 |
9-10 |
p. 671-672 2 p. |
artikel |
173 |
P1.23 Muscle membrane repair proteins are upregulated in muscular dystrophy and localise to t-tubule membranes following mechanical stretch
|
Waddell, L.B. |
|
2010 |
20 |
9-10 |
p. 607- 1 p. |
artikel |
174 |
P4.27 Muscle MRI findings in anoctaminopathy
|
Sarkozy, A. |
|
2010 |
20 |
9-10 |
p. 666- 1 p. |
artikel |
175 |
P4.30 Muscle MRI of spinal muscular atrophy
|
Komaki, H. |
|
2010 |
20 |
9-10 |
p. 667- 1 p. |
artikel |
176 |
P1.25 Muscle protein profile in Anoctaminopathies
|
Charlton, R. |
|
2010 |
20 |
9-10 |
p. 608- 1 p. |
artikel |
177 |
P4.57 Muscular amyloid angiopathy associated with amyloidogenic transthyretin Ser50Ile and Tyr114Cys
|
Yamashita, T. |
|
2010 |
20 |
9-10 |
p. 676- 1 p. |
artikel |
178 |
P1.19 Mutational spectrum and clinical features of Korean patients with dysferlinopathy
|
Park, Y.E. |
|
2010 |
20 |
9-10 |
p. 605-606 2 p. |
artikel |
179 |
P2.39 Mutation of alpha subunit of acetylcholine receptor causing slow-channel congenital myasthenic syndrome in a Thai family
|
Witoonpanich, R. |
|
2010 |
20 |
9-10 |
p. 630- 1 p. |
artikel |
180 |
P1.24 Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy
|
Hicks, D. |
|
2010 |
20 |
9-10 |
p. 607- 1 p. |
artikel |
181 |
P4.03 Mutation spectrum of the dystrophin gene in 456 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
|
Takeshima, Y. |
|
2010 |
20 |
9-10 |
p. 659- 1 p. |
artikel |
182 |
P3.37 Myogenesis in skeletal muscles with slowly progressive denervation in a rat model of amyotrophic lateral sclerosis
|
Warita, H. |
|
2010 |
20 |
9-10 |
p. 652- 1 p. |
artikel |
183 |
P2.46 Myogenin expression is decreased in biopsied muscles of sporadic inclusion body myositis
|
Kubota, A.K. |
|
2010 |
20 |
9-10 |
p. 632-633 2 p. |
artikel |
184 |
P3.16 Myostatin inhibits differentiation of normal and dysferlin-deficient human skeletal myoblasts – similarities and differences
|
Zacharias, U. |
|
2010 |
20 |
9-10 |
p. 645- 1 p. |
artikel |
185 |
P4.48 Myotonia with vacuolar myopathy in the horse
|
Ludvikova, E. |
|
2010 |
20 |
9-10 |
p. 672-673 2 p. |
artikel |
186 |
P3.03 Nanoparticles are effective vehicles for systemic delivery of 2′OMePS antisense oligonucleotides in exon skipping-mediated dystrophin restoration
|
Ferlini, A. |
|
2010 |
20 |
9-10 |
p. 641- 1 p. |
artikel |
187 |
P4.42 National registry of Duchenne muscular dystrophy patients at a major center in Turkey
|
Karaduman, A. |
|
2010 |
20 |
9-10 |
p. 671- 1 p. |
artikel |
188 |
P2.03 Natural course of distal myopathy with rimmed vacuoles (hereditary inclusion body myopathy) in Japan. The distal myopathy functional scale (DMFS) for assessment of clinical status
|
Mori-Yoshimura, M. |
|
2010 |
20 |
9-10 |
p. 619- 1 p. |
artikel |
189 |
P4.01 ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy
|
Bovolenta, M. |
|
2010 |
20 |
9-10 |
p. 658- 1 p. |
artikel |
190 |
P1.44 Neuromuscular junction abnormalities and myotubular myopathy
|
Dowling, J.J. |
|
2010 |
20 |
9-10 |
p. 613-614 2 p. |
artikel |
191 |
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals
|
Rotundo, I.L. |
|
2010 |
20 |
9-10 |
p. 645- 1 p. |
artikel |
192 |
P4.32 New light on calculating the free ADP concentration from the creatine kinase equilibrium
|
Janssen, B.H. |
|
2010 |
20 |
9-10 |
p. 667-668 2 p. |
artikel |
193 |
P4.23 Non uniform fatty infiltration distribution of skeletal muscle tissue in facioscapulohumeral dystrophy
|
Janssen, B.H. |
|
2010 |
20 |
9-10 |
p. 665- 1 p. |
artikel |
194 |
P4.05 Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy
|
Kimura, S. |
|
2010 |
20 |
9-10 |
p. 659- 1 p. |
artikel |
195 |
P1.16 Novel mutations and loci are associated with limb girdle muscular dystrophy type 2
|
Boyden, S.E. |
|
2010 |
20 |
9-10 |
p. 604-605 2 p. |
artikel |
196 |
P3.33 Nutritional analysis in infants and children with spinal muscular atrophy type I
|
Poruk, K.E. |
|
2010 |
20 |
9-10 |
p. 651- 1 p. |
artikel |
197 |
P1.26 Occurrence of ANO5 mutation R758C in patients with a muscular dystrophy of unknown etiology
|
Penttila, S. |
|
2010 |
20 |
9-10 |
p. 608- 1 p. |
artikel |
198 |
P1.50 Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in five Chinese Han families
|
Zhang, W. |
|
2010 |
20 |
9-10 |
p. 616- 1 p. |
artikel |
199 |
P2.15 Oculopharyngodistal myopathy – a possible association with cardiomyopathy
|
Hilton-Jones, D. |
|
2010 |
20 |
9-10 |
p. 622-623 2 p. |
artikel |
200 |
P2.30 Oral fat loading study – does specific hyperlipemia exist in myotonic dystrophy type 1?
|
Takada, H. |
|
2010 |
20 |
9-10 |
p. 627- 1 p. |
artikel |
201 |
Poster programme – Poster area A/B/C/D
|
|
|
2010 |
20 |
9-10 |
p. 593-595 3 p. |
artikel |
202 |
P4.35 Outcome measures validation study for mesoangioblasts transplantation in children affected by Duchenne muscular dystrophy
|
Bonfiglio, S. |
|
2010 |
20 |
9-10 |
p. 668-669 2 p. |
artikel |
203 |
P1.14 Overt myopathy in Ehlers–Danlos syndrome caused by tenascin-X deficiency: extending the clinical spectrum and refining the muscle pathology
|
Pénisson-Besnier, I. |
|
2010 |
20 |
9-10 |
p. 604- 1 p. |
artikel |
204 |
P1.38 Oxidative stress and RYR1-related myopathies
|
Dowling, J.J. |
|
2010 |
20 |
9-10 |
p. 612- 1 p. |
artikel |
205 |
P1.42 Pathogenetic studies of nebulin: a giant myofibrillar protein
|
Hanif, M. |
|
2010 |
20 |
9-10 |
p. 613- 1 p. |
artikel |
206 |
P1.13 Pathological spectrum of collagen VI related myopathies: Does the pathology tell us something about the disease?
|
Jimenez-Mallebrera, C. |
|
2010 |
20 |
9-10 |
p. 603- 1 p. |
artikel |
207 |
P2.01 Phenotypic variability of knock in mice carrying the M712T mutation in GNE
|
Salama, I. |
|
2010 |
20 |
9-10 |
p. 618- 1 p. |
artikel |
208 |
P1.01 POMGnT1 enhancement for muscle–eye–brain disease
|
Vajsar, J. |
|
2010 |
20 |
9-10 |
p. 599- 1 p. |
artikel |
209 |
P3.40 Potential role of sirtuin-1 as druggable target in muscular dystrophy: effect of a chronic resveratrol treatment on in vivo and ex vivo pathological signs of dystrophic mdx mouse
|
Cozzoli, A. |
|
2010 |
20 |
9-10 |
p. 653- 1 p. |
artikel |
210 |
P3.07 Preclinical safety of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) being developed to skip exon 51 in Duchenne muscular dystrophy
|
Shrewsbury, S.B. |
|
2010 |
20 |
9-10 |
p. 642-643 2 p. |
artikel |
211 |
P2.41 Prevalence of inclusion body myositis (IBM) in Japanese population
|
Suzuki, N. |
|
2010 |
20 |
9-10 |
p. 631- 1 p. |
artikel |
212 |
P4.08 Prevalence of sinus tachycardia in Duchenne muscular dystrophy
|
Cripe, L. |
|
2010 |
20 |
9-10 |
p. 660- 1 p. |
artikel |
213 |
P2.29 Progressions of (CTG) n expansions, muscular disability rating scale (MDRS), and abnormal glucose metabolism are age dependent in myotonic dystrophy type 1 (DM 1)
|
Kinoshita, M. |
|
2010 |
20 |
9-10 |
p. 627- 1 p. |
artikel |
214 |
P4.34 Progress using the Motor Function Measure for NMDs
|
de Castro, D. |
|
2010 |
20 |
9-10 |
p. 668- 1 p. |
artikel |
215 |
P4.61 Prominent respiratory muscle involvement in adPEO with POLG1 mutation
|
Ishikawa, K. |
|
2010 |
20 |
9-10 |
p. 677- 1 p. |
artikel |
216 |
P2.13 Proteolytic processing of C-terminal titin
|
Sarparanta, J. |
|
2010 |
20 |
9-10 |
p. 622- 1 p. |
artikel |
217 |
P4.22 Quantitative analysis of muscle wasting in Duchenne muscular dystrophy by a new computed tomography method
|
Kuru, S. |
|
2010 |
20 |
9-10 |
p. 664-665 2 p. |
artikel |
218 |
P1.41 Recurrent mutations in TPM3 likely arise from gene conversion events linked to multiple Tm5NM1 pseudogenes in the genome
|
Clarke, N.F. |
|
2010 |
20 |
9-10 |
p. 613- 1 p. |
artikel |
219 |
P1.27 Redundant and non-redundant effects of Ca2+ and Na+ on the activation of p94/calpain 3
|
Ono, Y. |
|
2010 |
20 |
9-10 |
p. 608- 1 p. |
artikel |
220 |
P4.41 REMUDY – DMD/BMD patient registry in Japan
|
Nakamura, H. |
|
2010 |
20 |
9-10 |
p. 670-671 2 p. |
artikel |
221 |
P3.22 Reprogrammed fibroblasts as a feasible source of cell-based therapy for muscular dystrophy
|
Ohsawa, Y. |
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2010 |
20 |
9-10 |
p. 647- 1 p. |
artikel |
222 |
P3.13 Reprogramming nebulin pre-mRNA splicing by spliceosome-mediated RNA trans-splicing
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Laitila, J. |
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2010 |
20 |
9-10 |
p. 644- 1 p. |
artikel |
223 |
P3.51 Results of a Phase 2b, dose-ranging study of ataluren (PTC124®) in nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD)
|
Finkel, R. |
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2010 |
20 |
9-10 |
p. 656-657 2 p. |
artikel |
224 |
P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)
|
Eymard, B. |
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2010 |
20 |
9-10 |
p. 673-674 2 p. |
artikel |
225 |
P1.47 Retrospective analysis of 309 muscle biopsies performed exclusively during the neonatal period
|
Romero, N.B. |
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2010 |
20 |
9-10 |
p. 614-615 2 p. |
artikel |
226 |
P2.33 Ribonuclear foci in differentiated tissues of patients with DM2
|
Lukas, Z. |
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2010 |
20 |
9-10 |
p. 628- 1 p. |
artikel |
227 |
Programme of the 15th WMS Congress – 2010
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2010 |
20 |
9-10 |
p. 575-592 18 p. |
artikel |
228 |
P2.10 Role of GNE in sarcomere organization
|
Salama, I. |
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2010 |
20 |
9-10 |
p. 621- 1 p. |
artikel |
229 |
P3.25 Satellite cell dependent growth and regeneration of skeletal muscle requires BMP signalling
|
Amthor, H. |
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2010 |
20 |
9-10 |
p. 648- 1 p. |
artikel |
230 |
P4.49 Screening program for adult Pompe disease in Czech Republic
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Vohanka, S. |
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2010 |
20 |
9-10 |
p. 673- 1 p. |
artikel |
231 |
P2.49 Sensitivity and specificity of major histocompatibility complex expression on sarcoplasmic membrane for diagnosis of idiopathic inflammatory myopathies
|
Kadoya, M. |
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2010 |
20 |
9-10 |
p. 633-634 2 p. |
artikel |
232 |
P1.06 Severe muscle damage following viral infection in patients with Fukuyama type congenital muscular dystrophy (FCMD)
|
Murakami, T. |
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2010 |
20 |
9-10 |
p. 601- 1 p. |
artikel |
233 |
P3.04 Skipping of exons 6 and 8 of the DMD gene has been achieved in myogenic cells from an exon-7 deleted DMD patient: direct application of antisense sequences found in study with canine muscular dystrophy
|
Shimizu, Y. |
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2010 |
20 |
9-10 |
p. 641-642 2 p. |
artikel |
234 |
P3.31 SMN rescue by using Tc-DNA analogues prompting inclusion of exon 7 in SMN2 mRNA
|
Robin, V. |
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2010 |
20 |
9-10 |
p. 650- 1 p. |
artikel |
235 |
P4.06 Somatic mosaicism in a Duchenne/Becker muscular dystrophy patient
|
Juan-Mateu, J. |
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2010 |
20 |
9-10 |
p. 660- 1 p. |
artikel |
236 |
P1.04 Some of disease-causing missense fukutin mutants mislocalize to endoplasmic reticulum
|
Tachikawa, M. |
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2010 |
20 |
9-10 |
p. 600- 1 p. |
artikel |
237 |
P4.43 Spinal muscular atrophy national registry of Turkey
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Karaduman, A. |
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2010 |
20 |
9-10 |
p. 671- 1 p. |
artikel |
238 |
P4.54 Splicing mutations in PNPLA2 gene cause neutral lipid storage disease with asymmetric myopathy with rimmed vacuoles
|
Yan, C. |
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2010 |
20 |
9-10 |
p. 675- 1 p. |
artikel |
239 |
P2.45 Sporadic inclusion body myositis and Sjögren’s syndrome
|
Rojana-udomsart, A. |
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2010 |
20 |
9-10 |
p. 632- 1 p. |
artikel |
240 |
P2.12 Studies of the post-mutational molecular defects underlying TMD and other muscular dystrophies through gene expression profiling
|
Screen, M.A. |
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2010 |
20 |
9-10 |
p. 621-622 2 p. |
artikel |
241 |
P4.38 Swallowing disorders in pediatric neuromuscular diseases: A pilot study
|
Demir, N. |
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2010 |
20 |
9-10 |
p. 669-670 2 p. |
artikel |
242 |
P4.20 Telomere length in exercised wild type and mdx mice
|
Messina, S. |
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2010 |
20 |
9-10 |
p. 664- 1 p. |
artikel |
243 |
P3.27 The amazing regenerative potency of human satellite cells - analysis in single fibers
|
Adams, S. |
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2010 |
20 |
9-10 |
p. 649- 1 p. |
artikel |
244 |
P2.16 The clinical and myopathological features of desminopathy in China, a cohort of 41 cases
|
Hong, D.J. |
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2010 |
20 |
9-10 |
p. 623- 1 p. |
artikel |
245 |
P1.43 The clinical and pathological analysis of the uniform type l fiber myopathy with brain atrophy and gluteal muscle contractures
|
Lixihua, L. |
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2010 |
20 |
9-10 |
p. 613- 1 p. |
artikel |
246 |
P3.09 The effect of combining activin receptor type IIB inhibition and prednisolone treatment in mdx mice
|
Lachey, J.L. |
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2010 |
20 |
9-10 |
p. 643- 1 p. |
artikel |
247 |
P2.32 The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population
|
Suominen, T. |
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2010 |
20 |
9-10 |
p. 628- 1 p. |
artikel |
248 |
P1.49 The importance and challenge of diagnosing myopathies due to LMNA
|
Menezes, M.P. |
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2010 |
20 |
9-10 |
p. 615- 1 p. |
artikel |
249 |
P2.51 The increased expression of B cell activating factor (BAFF) in patients with dermatomyositis
|
Baek, A.M. |
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2010 |
20 |
9-10 |
p. 634- 1 p. |
artikel |
250 |
P4.33 The Motor Function Measure (MFM), an outcome measure for neuromuscular disorders: Preliminary results in congenital muscular dystrophy (CMD)
|
Payan, C.A.M. |
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2010 |
20 |
9-10 |
p. 668- 1 p. |
artikel |
251 |
P1.45 The phosphoinositide phosphatase myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in muscle
|
Hnia, K. |
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2010 |
20 |
9-10 |
p. 614- 1 p. |
artikel |
252 |
P3.50 Therapeutic drug screen using dystrophin deficient zebrafish
|
Kawahara, G. |
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2010 |
20 |
9-10 |
p. 656- 1 p. |
artikel |
253 |
P3.24 Therapeutic potential of murine mesenchymal stem cells (MSC) from adipose tissue in the treatment of muscular dystrophy in the new double mutant mouse model for the genes Dystrophin and Large
|
Martins-Machado, P.C.M. |
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2010 |
20 |
9-10 |
p. 648- 1 p. |
artikel |
254 |
P3.23 Therapeutic potential of murine mesenchymal stem cells (MSC) from different origins in the treatment of muscular dystrophy
|
Onofre-Oliveira, P.C.G. |
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2010 |
20 |
9-10 |
p. 648- 1 p. |
artikel |
255 |
P3.53 The small molecule BMN 195 upregulates utrophin in human myoblast and myotube cell-based assays
|
Richard, M. |
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2010 |
20 |
9-10 |
p. 657- 1 p. |
artikel |
256 |
P3.49 The soy isoflavone genistein promotes muscle regeneration and function acting on cell cycle and apoptosis in mdx mice
|
Messina, S. |
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2010 |
20 |
9-10 |
p. 656- 1 p. |
artikel |
257 |
P4.53 The spectrum of genetic mutations responsible for the lipid storage myopathy in a cohort of 20 Chinese patients
|
Wang, Z.X. |
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2010 |
20 |
9-10 |
p. 674- 1 p. |
artikel |
258 |
P4.52 Transcriptional response to GAA deficiency in mice and humans
|
Palmer, R.E. |
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2010 |
20 |
9-10 |
p. 674- 1 p. |
artikel |
259 |
P1.39 Transfection of cultured myoblast with mutant β-tropomyosin (TPM2 EGFP)
|
Abdul-Hussein, S. |
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2010 |
20 |
9-10 |
p. 612- 1 p. |
artikel |
260 |
P3.34 Ultrasound evaluation of nuchal translucency thickness and fetal movements in 98 pregnancies at risk for type I spinal muscular atrophy: relevance of the SMN2 copy number
|
Parra, J. |
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2010 |
20 |
9-10 |
p. 651- 1 p. |
artikel |
261 |
P1.48 Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients
|
Paradas, C. |
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2010 |
20 |
9-10 |
p. 615- 1 p. |
artikel |
262 |
P4.36 Upper limb evaluation in non-ambulatory patients with neuromuscular disorders
|
Servais, L. |
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2010 |
20 |
9-10 |
p. 669- 1 p. |
artikel |
263 |
P4.12 Vitamin D and bone health in Duchenne muscular dystrophy (DMD) patients
|
Wong, B. |
|
2010 |
20 |
9-10 |
p. 662- 1 p. |
artikel |
264 |
P1.36 Zebrafish models of dynamin 2 – related centronuclear myopathy
|
Gibbs, E.M. |
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2010 |
20 |
9-10 |
p. 611- 1 p. |
artikel |
265 |
15th WMS Congress – 2010 – Programme (Summary)
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2010 |
20 |
9-10 |
p. 572-574 3 p. |
artikel |
266 |
T.I.1 Pharmacological therapies in muscular dystrophies
|
Flanigan, K.M. |
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2010 |
20 |
9-10 |
p. 638- 1 p. |
artikel |
267 |
T.I.2 Prospects of AAV-mediated gene therapy for neuromuscular disease
|
Voit, T. |
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2010 |
20 |
9-10 |
p. 638- 1 p. |
artikel |
268 |
Title
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2010 |
20 |
9-10 |
p. 569- 1 p. |
artikel |
269 |
Welcome to the World Muscle Society Congress in Kumamoto!
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2010 |
20 |
9-10 |
p. 570-571 2 p. |
artikel |
270 |
WMS News
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2010 |
20 |
9-10 |
p. I-II nvt p. |
artikel |
271 |
WMS online application form
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2010 |
20 |
9-10 |
p. 692- 1 p. |
artikel |