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                             15 gevonden resultaten
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
                             15 gevonden resultaten
 
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