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Author Becker-Cohen M |
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Hereditary inclusion body myopathy (HIBM) is a myopathy caused by recessive mutations in the UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase gene (GNE), encoding the key enzyme in the biosynthetic pathway of sialic acid. In an at[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nevo Y ; Becker-Cohen M ; Yaron Y ; Pras E ; Resnik-Wolf H ; Rachmiel M ; Mitrani-Rosenbaum S | 2008A child presenting with hypotonia and muscle weakness since infancy, ambulation until twelve years of age, seizures and normal cognitive function is described. CK was elevated (650-1420 IU/L). Brain MRI showed a few abnormal T2 white matter chan[...]Article
Eisenberg I ; Novershtern N ; Itzhaki Z ; Becker-Cohen M ; Sadeh M ; Willems PHGM ; Friedman N ; Koopman WJH ; Mitrani-Rosenbaum S | 2008Accès au résumé PubMed / to PubMed abstractArticle
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Amsili S ; Zer H ; Hinderlich S ; Becker-Cohen M ; Macarthur DG ; North KN ; Mitrani-Rosenbaum S | 2008Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid. While the mechanism leading from GNE mutations to the HIBM phenotype is not yet und[...]