GNE myopathy in a Chinese male with a novel homozygous mutation-Reference-Cited by-同舟云学术

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GNE myopathy in a Chinese male with a novel homozygous mutation

Published:2017-05 Issue: Volume:39 Page:68-72
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Rui Ban,Chuanqiang Pu,Huifang Wang,Huaxu Liu,Qiang Shi,Miaomiao Wei,Haiwen Song

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference15 articles.

1. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation;Nonaka;J Neurol Sci,1981

2. “Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews;Argov;J Neurol Sci,1984

3. New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies;Askanas;Curr Opin Rheumatol,1995

4. GNE myopathy: a personal trip from bedside observation to therapeutic trials;Argov;Acta Myologica,2015

5. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE);Kayashima;J Hum Genet,2002

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1. Understanding pathophysiology of GNE myopathy and current progress towards drug development;Journal of Biosciences;2024-02-19

2. Clinical, genetic, and pathological characterization of GNE myopathy in China;Neurological Sciences;2022-02-09

3. Self-healing Control Method in Abnormal State of Distribution Network;2020 Chinese Automation Congress (CAC);2020-11-06

4. GNE myopathy in Chinese population: hotspot and novel mutations;Journal of Human Genetics;2018-11-02

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