| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse
|
Madrid, Ricardo E.
|
|
2013
|
23 |
4 |
p. 345-348
4 p.
|
artikel
|
| 2 |
Duchenne muscular dystrophy and epilepsy
|
Pane, M.
|
|
2013
|
23 |
4 |
p. 313-315
3 p.
|
artikel
|
| 3 |
Editorial Board
|
|
|
2013
|
23 |
4 |
p. IFC-
1 p.
|
artikel
|
| 4 |
Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis
|
Pinós, Tomàs
|
|
2013
|
23 |
4 |
p. 330-336
7 p.
|
artikel
|
| 5 |
Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report
|
Axford, Michelle M.
|
|
2013
|
23 |
4 |
p. 370-374
5 p.
|
artikel
|
| 6 |
Imatinib attenuates severe mouse dystrophy and inhibits proliferation and fibrosis-marker expression in muscle mesenchymal progenitors
|
Ito, Takahito
|
|
2013
|
23 |
4 |
p. 349-356
8 p.
|
artikel
|
| 7 |
Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment
|
Chen, Tai-Heng
|
|
2013
|
23 |
4 |
p. 298-305
8 p.
|
artikel
|
| 8 |
Initial development and validation of a mitochondrial disease quality of life scale
|
Elson, J.L.
|
|
2013
|
23 |
4 |
p. 324-329
6 p.
|
artikel
|
| 9 |
In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype
|
Gineste, C.
|
|
2013
|
23 |
4 |
p. 357-369
13 p.
|
artikel
|
| 10 |
Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology
|
Lim, Byung Chan
|
|
2013
|
23 |
4 |
p. 337-344
8 p.
|
artikel
|
| 11 |
Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis
|
Oskarsson, Björn
|
|
2013
|
23 |
4 |
p. 316-318
3 p.
|
artikel
|
| 12 |
Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement
|
Hobson-Webb, Lisa D.
|
|
2013
|
23 |
4 |
p. 319-323
5 p.
|
artikel
|
| 13 |
Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy
|
Statland, Jeffrey M.
|
|
2013
|
23 |
4 |
p. 306-312
7 p.
|
artikel
|
| 14 |
Risk management protocol for gastrostomy and jejunostomy insertion in ventilator dependent infants
|
Chatwin, M.
|
|
2013
|
23 |
4 |
p. 289-297
9 p.
|
artikel
|
| 15 |
The European NeuroMuscular Centre (ENMC): 20 years on …
|
van Engelen, Baziel
|
|
2013
|
23 |
4 |
p. 375-376
2 p.
|
artikel
|
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