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 |