Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)-Reference-Cited by-同舟云学术

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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

Published:2002-02 Issue:2 Volume:47 Page:77-79
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kayashima T.,Matsuo H.,Satoh A.,Ohta T.,Yoshiura K.,Matsumoto N.,Nakane Y.,Niikawa N.,Kishino T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200212.pdf

Cited by 90 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

2. Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study;BMJ Neurology Open;2022-12

3. Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients;Muscle & Nerve;2021-11-12

4. Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan;Orphanet Journal of Rare Diseases;2020-09-11

5. Differential diagnosis of vacuolar myopathies in the NGS era;Brain Pathology;2020-06-15

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