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                             44 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of adult Pompe disease presenting with severe fatigue and selective involvement of type 1 muscle fibers van den Berg, Linda E.M.
2011
21 Supplement 1 p. 232-234
3 p.
artikel
2 A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1) Angeard, Nathalie
2011
21 Supplement 1 p. 468-476
9 p.
artikel
3 Disease impact in chronic progressive external ophthalmoplegia: More than meets the eye Smits, Bart W.
2011
21 Supplement 1 p. 272-278
7 p.
artikel
4 Duchenne muscular dystrophy: Survival by cardio-respiratory interventions Ishikawa, Yuka
2011
21 Supplement 1 p. 47-51
5 p.
artikel
5 Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1 Perbellini, Riccardo
2011
21 Supplement 1 p. 81-88
8 p.
artikel
6 Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features Cowling, Belinda S.
2011
21 Supplement 1 p. 237-251
15 p.
artikel
7 Hereditary peripheral neuropathies of childhood: An overview for clinicians Wilmshurst, Jo M.
2011
21 Supplement 1 p. 763-775
13 p.
artikel
8 Individual patient (n =1) “trials” in Duchenne dystrophy Catlin, Nick
2011
21 Supplement 1 p. 525-526
2 p.
artikel
9 Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man Pierson, Tyler Mark
2011
21 Supplement 1 p. 353-355
3 p.
artikel
10 Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies Vuillaumier-Barrot, S.
2011
21 Supplement 1 p. 782-790
9 p.
artikel
11 Myonuclear breakdown in sporadic inclusion body myositis is accompanied by DNA double strand breaks Nishii, Makoto
2011
21 Supplement 1 p. 345-352
8 p.
artikel
12 O07 Neuregulin-1 is required for axoglial signalling following peripheral nerve injury to ensure normal re-myelination and functional recovery Flicker, F.R.
2011
21 Supplement 1 p. S3-
1 p.
artikel
13 O13 Skeletal muscle MRI-determined fat fraction and myometric strength in inclusion body myositis and Charcot-Marie-Tooth disease Type 1A Sinclair, C.D.J.
2011
21 Supplement 1 p. S5-
1 p.
artikel
14 P40 A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance Aharoni, S.
2011
21 Supplement 1 p. S17-
1 p.
artikel
15 P74 An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis Blain, A.
2011
21 Supplement 1 p. S28-
1 p.
artikel
16 P5.69 Bulbofacial myopathy with anti-amphiphysin 2 (BIN 1) antibodies – A new paraneoplastic neurological syndrome? Reimann, J.
2011
21 Supplement 1 p. 745-
1 p.
artikel
17 P5.12 Congenital myotonia caused by mutations in the chloride channel ClC-1 in the South Moravian Region of Czech Republic Vohanka, S.
2011
21 Supplement 1 p. 727-
1 p.
artikel
18 P5.28 Culture supernatants from HTLV-1 infected T cells modify adhesion molecule-related gene signature in differentiated human muscle Castro, F.M.M.
2011
21 Supplement 1 p. 732-
1 p.
artikel
19 P3.14 Drug treatment in spinal muscular atrophy types 1, 2 and 3: An update of the systematic Cochrane review Wadman, R.I.
2011
21 Supplement 1 p. 686-
1 p.
artikel
20 P21 ErbB3 binding protein-1 (Ebp1) contributes to the control of proliferation and differentiation in adult muscle satellite cells Figeac, N.
2011
21 Supplement 1 p. S12-
1 p.
artikel
21 P5.27 Evidence for the Implication of Th-1 and Treg cells but not Th-17 in sporadic Inclusion Body Myositis Allenbach, Y.
2011
21 Supplement 1 p. 732-
1 p.
artikel
22 P5.3 Fatigue and daytime sleepiness scale in myotonic dystrophy type 1 Hermans, M.C.E.
2011
21 Supplement 1 p. 724-
1 p.
artikel
23 P12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathies Whitmore, C.
2011
21 Supplement 1 p. S10-
1 p.
artikel
24 P43 Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients Pandraud, A.
2011
21 Supplement 1 p. S18-
1 p.
artikel
25 P5.78 IGF-1 induces myostatin expression through differential activation of the signaling pathways PI3K/Akt, Calcineurin/NFAT, ERK/CREB, CamK-MEF, Smad2/3 during myoblast proliferation and differentiation Flores, S.
2011
21 Supplement 1 p. 747-
1 p.
artikel
26 Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings Bernal, Sara
2011
21 Supplement 1 p. 413-419
7 p.
artikel
27 P57 Mitochondrial DNA mutations in satellite cells Spendiff, S.
2011
21 Supplement 1 p. S22-
1 p.
artikel
28 P4.42 Muscle protein synthesis in patients with Dystrophia Myotonica type 1 Ørngreen, M.C.
2011
21 Supplement 1 p. 717-
1 p.
artikel
29 P09 Patient-specific viral rescue therapies for Duchenne muscular dystrophy Ritso, M.
2011
21 Supplement 1 p. S9-
1 p.
artikel
30 P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates Müller, J.
2011
21 Supplement 1 p. S13-S14
2 p.
artikel
31 P5.45 Recurrent rhabdomyolysis caused by LPIN 1 gene mutation in a patient affected by Charcot–Marie–Tooth 1A Nascimento, A.
2011
21 Supplement 1 p. 737-738
2 p.
artikel
32 P1.13 Respiratory pattern during water swallowing in patients with Duchenne muscular dystrophy and myotonic dystrophy type 1 Nozaki, S.
2011
21 Supplement 1 p. 645-
1 p.
artikel
33 P3.4 Spinal muscular atrophy with respiratory distress type 1 (SMARD-1). A clinico-pathological follow-up Millan-Tejado, B. San
2011
21 Supplement 1 p. 683-
1 p.
artikel
34 P4.43 Therapeutic effect of metformin against insulin resistance in myotonic dystrophy type 1 Takada, H.
2011
21 Supplement 1 p. 717-
1 p.
artikel
35 P5.66 The role of Neuraminidase 1 on skeletal muscle regeneration Neves, J.C.
2011
21 Supplement 1 p. 744-
1 p.
artikel
36 Recombinant expression of the AChR-alpha1 subunit for the detection of conformation-dependent epitopes in Myasthenia Gravis Ching, Kathryn H.
2011
21 Supplement 1 p. 204-213
10 p.
artikel
37 Report on the Second Endocrine Aspects of Duchenne Muscular Dystrophy Conference December 1–2, 2010, Baltimore, Maryland, USA Leung, D.G.
2011
21 Supplement 1 p. 594-601
8 p.
artikel
38 Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD) Nadarajah, V.D.
2011
21 Supplement 1 p. 569-578
10 p.
artikel
39 The risks of therapeutic misconception and individual patient (n =1) “trials” in rare diseases such as Duchenne dystrophy Aartsma-Rus, Annemieke
2011
21 Supplement 1 p. 13-15
3 p.
artikel
40 The soy isoflavone genistein blunts nuclear factor kappa-B, MAPKs and TNF-α activation and ameliorates muscle function and morphology in mdx mice Messina, Sonia
2011
21 Supplement 1 p. 579-589
11 p.
artikel
41 Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation Robinson, David O.
2011
21 Supplement 1 p. 809-811
3 p.
artikel
42 White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study Wozniak, Jeffrey R.
2011
21 Supplement 1 p. 89-96
8 p.
artikel
43 WMS 2012 2011
21 Supplement 1 p. 816-
1 p.
artikel
44 WMS online application form 2011
21 Supplement 1 p. II-
1 p.
artikel
                             44 gevonden resultaten
 
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