nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2
|
Witting, N. |
|
2013 |
23 |
1 |
p. 25-28 4 p. |
artikel |
2 |
Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon
|
Birch, Kathryn E. |
|
2013 |
23 |
1 |
p. 43-51 9 p. |
artikel |
3 |
Clinical impact of persistent hyperCKemia in a Norwegian general population: A case-control study
|
Lilleng, Hallvard |
|
2013 |
23 |
1 |
p. 29-35 7 p. |
artikel |
4 |
Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy
|
Balci-Hayta, Burcu |
|
2013 |
23 |
1 |
p. 15-18 4 p. |
artikel |
5 |
Commentary from the Editor
|
Dubowitz, Victor |
|
2013 |
23 |
1 |
p. 1-3 3 p. |
artikel |
6 |
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
|
Mahjneh, Ibrahim |
|
2013 |
23 |
1 |
p. 36-42 7 p. |
artikel |
7 |
Editorial Board
|
|
|
2013 |
23 |
1 |
p. IFC- 1 p. |
artikel |
8 |
Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis
|
Wanschitz, Julia V. |
|
2013 |
23 |
1 |
p. 75-83 9 p. |
artikel |
9 |
[No title]
|
Damian, Linda |
|
2013 |
23 |
1 |
p. 94- 1 p. |
artikel |
10 |
[No title]
|
Brady, Stefen |
|
2013 |
23 |
1 |
p. 93- 1 p. |
artikel |
11 |
[No title]
|
Cox, Amanda |
|
2013 |
23 |
1 |
p. 95- 1 p. |
artikel |
12 |
[No title]
|
Norwood, Fiona |
|
2013 |
23 |
1 |
p. 93-94 2 p. |
artikel |
13 |
Pipestem capillaries in necrotizing myopathy revisited
|
Schröder, Nicolas W.J. |
|
2013 |
23 |
1 |
p. 66-74 9 p. |
artikel |
14 |
Presymptomatic late-onset Pompe disease identified by the dried blood spot test
|
Wagner, Matias |
|
2013 |
23 |
1 |
p. 89-92 4 p. |
artikel |
15 |
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)
|
Mori-Yoshimura, Madoka |
|
2013 |
23 |
1 |
p. 84-88 5 p. |
artikel |
16 |
Spinal muscular atrophy at the crossroads of basic science and therapy
|
Sleigh, James N. |
|
2013 |
23 |
1 |
p. 96- 1 p. |
artikel |
17 |
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita
|
Portaro, Simona |
|
2013 |
23 |
1 |
p. 52-55 4 p. |
artikel |
18 |
Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes
|
Kiiski, K. |
|
2013 |
23 |
1 |
p. 56-65 10 p. |
artikel |
19 |
Test–retest reliability and developmental evolution of the 6-min walk test in Caucasian boys aged 5–12years
|
Goemans, Nathalie |
|
2013 |
23 |
1 |
p. 19-24 6 p. |
artikel |
20 |
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice
|
Ferlini, Alessandra |
|
2013 |
23 |
1 |
p. 4-14 11 p. |
artikel |
21 |
WMS 17 Perth, Australia
|
|
|
2013 |
23 |
1 |
p. 97-101 5 p. |
artikel |