GNE myopathy: from clinics and genetics to pathology and research strategies-Reference-Cited by-同舟云学术

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GNE myopathy: from clinics and genetics to pathology and research strategies

Published:2018-05-02 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Pogoryelova Oksana,González Coraspe José Andrés,Nikolenko Nikoletta,Lochmüller Hanns,Roos Andreas

Funder

Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen

European Union Seventh Framework Programme

Deutsche Gesellschaft für Muskelkranke

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0802-x.pdf

Reference80 articles.

1. Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci. 1981;51:141–55.

2. Argov Z, Yarom R. "rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci. 1984;64:33–43.

3. Argov Z. GNE myopathy: a personal trip from bedside observation to therapeutic trials. Acta myol. 2014;33:107–10.

4. Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet. 1996;5:159–63.

5. Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001;29:83–7.

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