| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers
|
Ferry, Arnaud
|
|
2014
|
24 |
11 |
p. 960-972
13 p.
|
artikel
|
| 2 |
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation
|
Bolocan, Anamaria
|
|
2014
|
24 |
11 |
p. 993-998
6 p.
|
artikel
|
| 3 |
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
|
Grunseich, Christopher
|
|
2014
|
24 |
11 |
p. 978-981
4 p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2014
|
24 |
11 |
p. IFC-
1 p.
|
artikel
|
| 5 |
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
|
Furby, A.
|
|
2014
|
24 |
11 |
p. 953-959
7 p.
|
artikel
|
| 6 |
Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
|
Zatz, M.
|
|
2014
|
24 |
11 |
p. 986-989
4 p.
|
artikel
|
| 7 |
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy
|
Haberlova, J.
|
|
2014
|
24 |
11 |
p. 990-992
3 p.
|
artikel
|
| 8 |
Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective
|
Johnson, Nicholas E.
|
|
2014
|
24 |
11 |
p. 1018-1023
6 p.
|
artikel
|
| 9 |
Screening for late-onset Pompe disease in Finland
|
Palmio, Johanna
|
|
2014
|
24 |
11 |
p. 982-985
4 p.
|
artikel
|
| 10 |
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
|
Mannil, Manoj
|
|
2014
|
24 |
11 |
p. 1003-1017
15 p.
|
artikel
|
| 11 |
The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: Implications for pre-clinical studies and clinical trials for spinal muscular atrophy
|
Hunter, Gillian
|
|
2014
|
24 |
11 |
p. 973-977
5 p.
|
artikel
|
| 12 |
The role of interleukin-17 in immune-mediated inflammatory myopathies and possible therapeutic implications
|
Moran, Ellen M.
|
|
2014
|
24 |
11 |
p. 943-952
10 p.
|
artikel
|
| 13 |
Two patients with co-morbid myasthenia gravis in a Brazilian cohort of inflammatory bowel disease
|
Gondim, Francisco de A.A.
|
|
2014
|
24 |
11 |
p. 999-1002
4 p.
|
artikel
|
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