| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b
|
Corrado, L.
|
|
2016
|
26 |
8 |
p. 516-520
5 p.
|
artikel
|
| 2 |
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
|
Scalco, Renata Siciliani
|
|
2016
|
26 |
8 |
p. 504-510
7 p.
|
artikel
|
| 3 |
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants
|
Brand, Patricio
|
|
2016
|
26 |
8 |
p. 511-515
5 p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2016
|
26 |
8 |
p. CO2-
1 p.
|
artikel
|
| 5 |
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
|
McDonald, Craig M.
|
|
2016
|
26 |
8 |
p. 473-480
8 p.
|
artikel
|
| 6 |
Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both
|
Finsterer, Josef
|
|
2016
|
26 |
8 |
p. 548-549
2 p.
|
artikel
|
| 7 |
Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse
|
Cattin, Marie-Elodie
|
|
2016
|
26 |
8 |
p. 490-499
10 p.
|
artikel
|
| 8 |
Progression from respiratory dysfunction to failure in late-onset Pompe disease
|
Berger, Kenneth I.
|
|
2016
|
26 |
8 |
p. 481-489
9 p.
|
artikel
|
| 9 |
Pseudo-perifascicular atrophy in the healing phase of Jo-1 antisynthetase syndrome
|
Tateyama, Maki
|
|
2016
|
26 |
8 |
p. 521-522
2 p.
|
artikel
|
| 10 |
Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both
|
Mancuso, Michelangelo
|
|
2016
|
26 |
8 |
p. 549-
1 p.
|
artikel
|
| 11 |
213th ENMC International Workshop: Outcome measures and clinical trial readiness in idiopathic inflammatory myopathies, Heemskerk, The Netherlands, 18–20 September 2015
|
Benveniste, Olivier
|
|
2016
|
26 |
8 |
p. 523-534
12 p.
|
artikel
|
| 12 |
215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands
|
Evangelista, Teresinha
|
|
2016
|
26 |
8 |
p. 535-547
13 p.
|
artikel
|
| 13 |
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy
|
Ghaoui, Roula
|
|
2016
|
26 |
8 |
p. 500-503
4 p.
|
artikel
|
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