| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1
|
Algalarrondo, Vincent
|
|
2015
|
25 |
4 |
p. 308-320
13 p.
|
artikel
|
| 2 |
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
|
Casar-Borota, Olivera
|
|
2015
|
25 |
4 |
p. 345-348
4 p.
|
artikel
|
| 3 |
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G
|
Barresi, Rita
|
|
2015
|
25 |
4 |
p. 349-352
4 p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2015
|
25 |
4 |
p. CO2-
1 p.
|
artikel
|
| 5 |
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy
|
Yüceyar, Nur
|
|
2015
|
25 |
4 |
p. 340-344
5 p.
|
artikel
|
| 6 |
Inclusion body myositis and sarcoid myopathy: Coincidental occurrence or associated diseases
|
Sanmaneechai, Oranee
|
|
2015
|
25 |
4 |
p. 297-300
4 p.
|
artikel
|
| 7 |
Mitochondrial pathology in inclusion body myositis
|
Lindgren, Ulrika
|
|
2015
|
25 |
4 |
p. 281-288
8 p.
|
artikel
|
| 8 |
203rd ENMC international workshop: Respiratory pathophysiology in congenital muscle disorders: Implications for pro-active care and clinical research 13–15 December, 2013, Naarden, The Netherlands
|
Rutkowski, A.
|
|
2015
|
25 |
4 |
p. 353-358
6 p.
|
artikel
|
| 9 |
Response
|
Menezes, Manoj P.
|
|
2015
|
25 |
4 |
p. 360-
1 p.
|
artikel
|
| 10 |
Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease
|
Case, Laura E.
|
|
2015
|
25 |
4 |
p. 321-332
12 p.
|
artikel
|
| 11 |
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype
|
Bugiardini, E.
|
|
2015
|
25 |
4 |
p. 301-307
7 p.
|
artikel
|
| 12 |
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
|
Weihl, Conrad C.
|
|
2015
|
25 |
4 |
p. 289-296
8 p.
|
artikel
|
| 13 |
The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
|
Scuderi, Carmela
|
|
2015
|
25 |
4 |
p. 333-339
7 p.
|
artikel
|
| 14 |
Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease
|
Pinto, Wladimir Bocca Vieira de Rezende
|
|
2015
|
25 |
4 |
p. 359-360
2 p.
|
artikel
|
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