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                             19 results found
no title author magazine year volume issue page(s) type
1 A new distal myopathy with mutation in anoctamin 5 Mahjneh, Ibrahim
2010
20 12 p. 791-795
5 p.
article
2 A new truncating MPZ mutation associated with a very mild CMT1 B phenotype Piazza, Selina
2010
20 12 p. 817-819
3 p.
article
3 Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies Taratuto, A.L.
2010
20 12 p. 783-790
8 p.
article
4 Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia Munot, P.
2010
20 12 p. 796-800
5 p.
article
5 Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology Berger, Joachim
2010
20 12 p. 826-832
7 p.
article
6 Editorial Board 2010
20 12 p. IFC-
1 p.
article
7 Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study van Capelle, C.I.
2010
20 12 p. 775-782
8 p.
article
8 Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle Guo, Ling T.
2010
20 12 p. 820-825
6 p.
article
9 Health supervision and anticipatory guidance in adult myotonic dystrophy type 1 Gagnon, C.
2010
20 12 p. 847-851
5 p.
article
10 Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations Forrest, Sarah
2010
20 12 p. 810-816
7 p.
article
11 Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy Zaidman, Craig M.
2010
20 12 p. 805-809
5 p.
article
12 Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK Robb, Stephanie A.
2010
20 12 p. 833-838
6 p.
article
13 Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation Liewluck, Teerin
2010
20 12 p. 801-804
4 p.
article
14 168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT) Reilly, M.M.
2010
20 12 p. 839-846
8 p.
article
15 The 2011 version of the gene table of neuromuscular disorders Kaplan, Jean-Claude
2010
20 12 p. 852-873
22 p.
article
16 Where do we stand in enzyme replacement therapy in Pompe’s disease? van der Ploeg, A.T.
2010
20 12 p. 773-774
2 p.
article
17 WMS 2010 2010
20 12 p. I-
1 p.
article
18 WMS News 2010
20 12 p. III-IV
nvt p.
article
19 WMS online application form 2010
20 12 p. II-
1 p.
article
                             19 results found
 
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