Digitale Bibliotheek
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                             271 gevonden resultaten
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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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163 P4.44 mitoNET – German network for mitochondrial disorders Klopstock, T.
2010
20 9-10 p. 671-
1 p.
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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.
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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.
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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.
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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.
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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.
2010
20 9-10 p. 647-
1 p.
artikel
222 P3.13 Reprogramming nebulin pre-mRNA splicing by spliceosome-mediated RNA trans-splicing Laitila, J.
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.
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.
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.
2010
20 9-10 p. 614-615
2 p.
artikel
226 P2.33 Ribonuclear foci in differentiated tissues of patients with DM2 Lukas, Z.
2010
20 9-10 p. 628-
1 p.
artikel
227 Programme of the 15th WMS Congress – 2010 2010
20 9-10 p. 575-592
18 p.
artikel
228 P2.10 Role of GNE in sarcomere organization Salama, I.
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.
2010
20 9-10 p. 648-
1 p.
artikel
230 P4.49 Screening program for adult Pompe disease in Czech Republic Vohanka, S.
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.
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.
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.
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.
2010
20 9-10 p. 650-
1 p.
artikel
235 P4.06 Somatic mosaicism in a Duchenne/Becker muscular dystrophy patient Juan-Mateu, J.
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.
2010
20 9-10 p. 600-
1 p.
artikel
237 P4.43 Spinal muscular atrophy national registry of Turkey Karaduman, A.
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.
2010
20 9-10 p. 675-
1 p.
artikel
239 P2.45 Sporadic inclusion body myositis and Sjögren’s syndrome Rojana-udomsart, A.
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.
2010
20 9-10 p. 621-622
2 p.
artikel
241 P4.38 Swallowing disorders in pediatric neuromuscular diseases: A pilot study Demir, N.
2010
20 9-10 p. 669-670
2 p.
artikel
242 P4.20 Telomere length in exercised wild type and mdx mice Messina, S.
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.
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.
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.
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.
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.
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.
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.
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.
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.
2010
20 9-10 p. 614-
1 p.
artikel
252 P3.50 Therapeutic drug screen using dystrophin deficient zebrafish Kawahara, G.
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.
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.
2010
20 9-10 p. 648-
1 p.
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255 P3.53 The small molecule BMN 195 upregulates utrophin in human myoblast and myotube cell-based assays Richard, M.
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.
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.
2010
20 9-10 p. 674-
1 p.
artikel
258 P4.52 Transcriptional response to GAA deficiency in mice and humans Palmer, R.E.
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.
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.
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.
2010
20 9-10 p. 615-
1 p.
artikel
262 P4.36 Upper limb evaluation in non-ambulatory patients with neuromuscular disorders Servais, L.
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.
2010
20 9-10 p. 611-
1 p.
artikel
265 15th WMS Congress – 2010 – Programme (Summary) 2010
20 9-10 p. 572-574
3 p.
artikel
266 T.I.1 Pharmacological therapies in muscular dystrophies Flanigan, K.M.
2010
20 9-10 p. 638-
1 p.
artikel
267 T.I.2 Prospects of AAV-mediated gene therapy for neuromuscular disease Voit, T.
2010
20 9-10 p. 638-
1 p.
artikel
268 Title 2010
20 9-10 p. 569-
1 p.
artikel
269 Welcome to the World Muscle Society Congress in Kumamoto! 2010
20 9-10 p. 570-571
2 p.
artikel
270 WMS News 2010
20 9-10 p. I-II
nvt p.
artikel
271 WMS online application form 2010
20 9-10 p. 692-
1 p.
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                             271 gevonden resultaten
 
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