nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype
|
Nam, Tai-Seung |
|
2015 |
25 |
11 |
p. 843-851 9 p. |
artikel |
2 |
Atypical presentation of Charcot–Marie–Tooth disease 1A: A case report
|
Kulkarni, Shilpa D. |
|
2015 |
25 |
11 |
p. 916-919 4 p. |
artikel |
3 |
Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment
|
Gaeta, Michele |
|
2015 |
25 |
11 |
p. 852-858 7 p. |
artikel |
4 |
Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy
|
Mankodi, Ami |
|
2015 |
25 |
11 |
p. 908-912 5 p. |
artikel |
5 |
Dropped-head in recessive oculopharyngeal muscular dystrophy
|
Garibaldi, Matteo |
|
2015 |
25 |
11 |
p. 869-872 4 p. |
artikel |
6 |
Editorial Board
|
|
|
2015 |
25 |
11 |
p. CO2- 1 p. |
artikel |
7 |
Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case
|
Dorotea, Tiziano |
|
2015 |
25 |
11 |
p. 888-897 10 p. |
artikel |
8 |
Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1
|
Park, Hyung Jun |
|
2015 |
25 |
11 |
p. 859-864 6 p. |
artikel |
9 |
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
|
Tasca, Giorgio |
|
2015 |
25 |
11 |
p. 898-903 6 p. |
artikel |
10 |
Myotonia-like symptoms in a patient with spinal and bulbar muscular atrophy
|
Araki, Kunihiko |
|
2015 |
25 |
11 |
p. 913-915 3 p. |
artikel |
11 |
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease
|
Palmio, Johanna |
|
2015 |
25 |
11 |
p. 835-842 8 p. |
artikel |
12 |
Precise correlation between structural and electrophysiological disturbances in MADSAM neuropathy
|
Simon, Neil G. |
|
2015 |
25 |
11 |
p. 904-907 4 p. |
artikel |
13 |
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations
|
Svahn, J. |
|
2015 |
25 |
11 |
p. 865-868 4 p. |
artikel |
14 |
Sparing of the extraocular muscles in mdx mice with absent or reduced utrophin expression: A life span analysis
|
McDonald, Abby A. |
|
2015 |
25 |
11 |
p. 873-887 15 p. |
artikel |
15 |
The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development
|
Vulin, Adeline |
|
2015 |
25 |
11 |
p. 827-834 8 p. |
artikel |