| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers
|
Rinz, Caitlin J.
|
|
2015
|
25 |
12 |
p. 921-927
7 p.
|
artikel
|
| 2 |
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy
|
Gan, Joanna J.
|
|
2015
|
25 |
12 |
p. 959-963
5 p.
|
artikel
|
| 3 |
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults
|
Tarnopolsky, M.
|
|
2015
|
25 |
12 |
p. 952-954
3 p.
|
artikel
|
| 4 |
Associate Professor Nigel Clarke PhD, MBChB, FRACP (1966–2015)
|
Laing, Nigel
|
|
2015
|
25 |
12 |
p. 977-978
2 p.
|
artikel
|
| 5 |
Challenges of clinical trial design for DMD
|
Ricotti, Valeria
|
|
2015
|
25 |
12 |
p. 932-935
4 p.
|
artikel
|
| 6 |
Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis
|
Santos, Ernestina
|
|
2015
|
25 |
12 |
p. 928-931
4 p.
|
artikel
|
| 7 |
Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)
|
Landfeldt, Erik
|
|
2015
|
25 |
12 |
p. 937-944
8 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2015
|
25 |
12 |
p. CO2-
1 p.
|
artikel
|
| 9 |
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD
|
Vasale, Jessica
|
|
2015
|
25 |
12 |
p. 945-951
7 p.
|
artikel
|
| 10 |
Neuronal nitric oxide synthase localizes to utrophin expressing intercalated discs and stabilizes their structural integrity
|
Gonzalez, J. Patrick
|
|
2015
|
25 |
12 |
p. 964-976
13 p.
|
artikel
|
| 11 |
[No title]
|
Norwood, Fiona
|
|
2015
|
25 |
12 |
p. 990-
1 p.
|
artikel
|
| 12 |
1st Italian SMA Family Association Consensus Meeting:
|
Sansone, V.A.
|
|
2015
|
25 |
12 |
p. 979-989
11 p.
|
artikel
|
| 13 |
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis
|
Ke, Qing
|
|
2015
|
25 |
12 |
p. 955-958
4 p.
|
artikel
|
| 14 |
The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
|
Kaplan, Jean-Claude
|
|
2015
|
25 |
12 |
p. 991-1020
30 p.
|
artikel
|
| 15 |
Unnatural natural history of Duchenne muscular dystrophy
|
Dubowitz, Victor
|
|
2015
|
25 |
12 |
p. 936-
1 p.
|
artikel
|
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