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                             48 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation Jungbluth, Heinz
 2010
 20 Supplement 1 p. 49-52
4 p.
 artikel
2 Clinical and neuropathological findings in patients with TACO1 mutations Seeger, Jürgen
 2010
 20 Supplement 1 p. 720-724
5 p.
 artikel
3 Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia Munot, P.
 2010
 20 Supplement 1 p. 796-800
5 p.
 artikel
4 Editorial Board 2010
 20 Supplement 1 p. IFC-
1 p.
 artikel
5 Editorial Board 2010
 20 Supplement 1 p. IFC-
1 p.
 artikel
6 Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study van Capelle, C.I.
 2010
 20 Supplement 1 p. 775-782
8 p.
 artikel
7 ENMC Assessment 2010
 20 Supplement 1 p. V-
1 p.
 artikel
8 Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3 Waddell, Leigh B
 2010
 20 Supplement 1 p. 464-466
3 p.
 artikel
9 Health supervision and anticipatory guidance in adult myotonic dystrophy type 1 Gagnon, C.
 2010
 20 Supplement 1 p. 847-851
5 p.
 artikel
10 Letter 1 Munn, Michael W.
 2010
 20 Supplement 1 p. 216-
1 p.
 artikel
11 Microvasculopathic neuromuscular diseases: Lessons from hypoxia-inducible factors Probst-Cousin, Stefan
 2010
 20 Supplement 1 p. 192-197
6 p.
 artikel
12 Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neuroscience 2009; 29: 11761–11771 2010
 20 Supplement 1 p. 214-
1 p.
 artikel
13 North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy Mazzone, Elena
 2010
 20 Supplement 1 p. 712-716
5 p.
 artikel
14 O.19 Inactivation of glycogen synthesis priming due to a missense mutation in glycogenin-1 – A new disease mechanism Moslemi, A.-R.
 2010
 20 Supplement 1 p. 679-
1 p.
 artikel
15 Oral dexamethasone pulse therapy versus daily prednisolone in sub-acute onset myositis, a randomised clinical trial van de Vlekkert, J.
 2010
 20 Supplement 1 p. 382-389
8 p.
 artikel
16 O02 RNA therapy approaches in myotonic dystrophy Thornton, C.
 2010
 20 Supplement 1 p. S1-
1 p.
 artikel
17 P33 Analysis of small fibre function in the C3 mouse, a model of CMT1A Clark, A.
 2010
 20 Supplement 1 p. S14-
1 p.
 artikel
18 P19 An extremely high rate of de novo base substitution mutations causes interruptions at the myotonic dystrophy type 1 locus Couto, J.M.
 2010
 20 Supplement 1 p. S10-
1 p.
 artikel
19 P66 A novel point mutation in the Caenorhabditis elegans smn-1 gene provides a useful model for investigating Spinal Muscular Atrophy Sleigh, J.N.
 2010
 20 Supplement 1 p. S22-S23
2 p.
 artikel
20 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 Supplement 1 p. 646-
1 p.
 artikel
21 P3.15 Crosstalk between myostatin and IGF-1 signalling pathways during myoblast proliferation and differentiation Valdes, J.A.
 2010
 20 Supplement 1 p. 645-
1 p.
 artikel
22 P42 Does Bmi-1 over-expression increase myogenic satellite cells self-renewal capacity in ageing muscle? Di Foggia, V.
 2010
 20 Supplement 1 p. S16-
1 p.
 artikel
23 P50 Down-regulation of ColQ by RNA interference as a potential alternative therapy in myasthenic disorders Kenyon, J.
 2010
 20 Supplement 1 p. S18-
1 p.
 artikel
24 P81 Drug screening for new inhibitors of a human β-amyloid (Aβ1–42) induced phenotype in a Caenorhabditis elegans transgenic line CL4176 Nussher, A.K.
 2010
 20 Supplement 1 p. S27-
1 p.
 artikel
25 P67 Early presentation of spinal muscular atrophy with respiratory distress (SMARD1) Khan, T.
 2010
 20 Supplement 1 p. S23-
1 p.
 artikel
26 P64 Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations Davidson, G.
 2010
 20 Supplement 1 p. S22-
1 p.
 artikel
27 P05 Induction of dystrophin in Duchenne muscular dystrophy patients by antisense oligonucleotide AVI-4658 restores the dystrophin-associated glycoprotein complex Cirak, S.
 2010
 20 Supplement 1 p. S6-
1 p.
 artikel
28 P2.22 Lamp-1 overexpression rescues cardiomyopathy in Lamp-2 deficient cells by correcting cellular lysosomal function Honda, S.
 2010
 20 Supplement 1 p. 624-625
2 p.
 artikel
29 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 Supplement 1 p. 667-
1 p.
 artikel
30 P4.46 Molecular pathogenesis of a new glycogenosis caused by a mutation in glycogenin-1 Nilsson, J.
 2010
 20 Supplement 1 p. 672-
1 p.
 artikel
31 P02 Multiexon skipping in Duchenne muscular dystrophy Popplewell, L.
 2010
 20 Supplement 1 p. S5-
1 p.
 artikel
32 P65 Neuregulin-1 is required for remyelination and regeneration following injury to the adult peripaheral nervous system Fricker, F.R.
 2010
 20 Supplement 1 p. S22-
1 p.
 artikel
33 P2.30 Oral fat loading study – does specific hyperlipemia exist in myotonic dystrophy type 1? Takada, H.
 2010
 20 Supplement 1 p. 627-
1 p.
 artikel
34 P36 Phenotypic separation of satellite stem cells using flow cytometry Briggs, D.
 2010
 20 Supplement 1 p. S14-S15
2 p.
 artikel
35 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 Supplement 1 p. 653-
1 p.
 artikel
36 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 Supplement 1 p. 627-
1 p.
 artikel
37 Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway Vignaud, Alban
 2010
 20 Supplement 1 p. 319-325
7 p.
 artikel
38 P2.32 The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population Suominen, T.
 2010
 20 Supplement 1 p. 628-
1 p.
 artikel
39 P30 The integrin effectors talin 1 and 2 are essential for skeletal muscle development and integrity Conti, F.J.
 2010
 20 Supplement 1 p. S13-
1 p.
 artikel
40 P91 Using MRI as a diagnostic tool in the skeletal muscle channelopathies Matthews, E.
 2010
 20 Supplement 1 p. S29-S30
2 p.
 artikel
41 P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases Braida, C.
 2010
 20 Supplement 1 p. S10-
1 p.
 artikel
42 Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ) Hermans, Mieke C.E.
 2010
 20 Supplement 1 p. 310-318
9 p.
 artikel
43 Serum matrix metalloproteinase-9 activity is dysregulated with disease progression in the mutant SOD1 transgenic mice Soon, Cynthia P.W.
 2010
 20 Supplement 1 p. 260-266
7 p.
 artikel
44 The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability Glanzman, A.M.
 2010
 20 Supplement 1 p. 155-161
7 p.
 artikel
45 WMS 2010 2010
 20 Supplement 1 p. I-
1 p.
 artikel
46 WMS News 2010
 20 Supplement 1 p. III-IV
nvt p.
 artikel
47 WMS News 2010
 20 Supplement 1 p. III-IV
nvt p.
 artikel
48 WMS online application form 2010
 20 Supplement 1 p. 692-
1 p.
 artikel
                             48 gevonden resultaten
 
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