nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21
|
Calpena, E. |
|
2014 |
24 |
8 |
p. 660-665 6 p. |
artikel |
2 |
Biomarkers and surrogate endpoints in Duchenne: Meeting report
|
Aartsma-Rus, Annemieke |
|
2014 |
24 |
8 |
p. 743-745 3 p. |
artikel |
3 |
Characteristics of muscle cramps in patients with polyneuropathy
|
Maxwell, Sarah K. |
|
2014 |
24 |
8 |
p. 671-676 6 p. |
artikel |
4 |
Conserved regions of the DMD 3′ UTR regulate translation and mRNA abundance in cultured myotubes
|
Larsen, C. Aaron |
|
2014 |
24 |
8 |
p. 693-706 14 p. |
artikel |
5 |
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G> A (p.E1856K) with high interfamilial cardiac variability and putative anticipation
|
Finsterer, Josef |
|
2014 |
24 |
8 |
p. 721-725 5 p. |
artikel |
6 |
Editorial Board
|
|
|
2014 |
24 |
8 |
p. IFC- 1 p. |
artikel |
7 |
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
|
Chan, Sophelia H.S. |
|
2014 |
24 |
8 |
p. 677-683 7 p. |
artikel |
8 |
Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations
|
Roos, S. |
|
2014 |
24 |
8 |
p. 713-720 8 p. |
artikel |
9 |
[No title]
|
Jacques, Thomas S. |
|
2014 |
24 |
8 |
p. 746- 1 p. |
artikel |
10 |
[No title]
|
Spinty, Stefan |
|
2014 |
24 |
8 |
p. 747- 1 p. |
artikel |
11 |
Predictive factors for masticatory performance in Duchenne muscular dystrophy
|
van Bruggen, H.W. |
|
2014 |
24 |
8 |
p. 684-692 9 p. |
artikel |
12 |
Rhabdomyolysis: Review of the literature
|
Zutt, R. |
|
2014 |
24 |
8 |
p. 651-659 9 p. |
artikel |
13 |
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine
|
Illingworth, M.A. |
|
2014 |
24 |
8 |
p. 707-712 6 p. |
artikel |
14 |
The decreased expression of thioredoxin-1 in brain of mice with experimental autoimmune myasthenia gravis
|
Chen, Wenli |
|
2014 |
24 |
8 |
p. 726-735 10 p. |
artikel |
15 |
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission – OPA1 and MFN2 molecular mechanisms and therapeutic strategies
|
Yu-Wai-Man, Patrick |
|
2014 |
24 |
8 |
p. 736-742 7 p. |
artikel |
16 |
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease
|
Menezes, Manoj P. |
|
2014 |
24 |
8 |
p. 666-670 5 p. |
artikel |