Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations-Reference-Cited by-同舟云学术

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Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations

Published:2012-09-13 Issue:4 Volume:46 Page:600-604
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Huh So-Young,Kim Hyang-Sook,Jang Ho-Jung,Park Yeong-Eun,Kim Dae-Seong

Funder

Korea Research Foundation

Korean Government

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23451/fullpdf

Reference9 articles.

1. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations;Guergueltcheva;J Neurol

2. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect;Senderek;Am J Hum Genet,2011

3. Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases;Rodolico;Neuromuscul Disord,2002

4. Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgias/cramps;Rosenberg;Arch Neurol,1985

5. Tubular aggregates in skeletal muscle: just a special type of protein aggregates?;Schiaffino;Neuromuscul Disord,2012

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2. From metabolism to disease: the biological roles of glutamine:fructose-6-phosphate amidotransferase (GFAT);Pure and Applied Chemistry;2023-08-08

3. The Hexosamine Biosynthesis Pathway: Regulation and Function;Genes;2023-04-18

4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13

5. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

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