GNE myopathy: A prospective natural history study of disease progression-Reference-Cited by-同舟云学术

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GNE myopathy: A prospective natural history study of disease progression

Published:2014-05 Issue:5 Volume:24 Page:380-386
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Mori-Yoshimura Madoka,Oya Yasushi,Yajima Hiroyuki,Yonemoto Naohiro,Kobayashi Yoko,Hayashi Yukiko K.,Noguchi Satoru,Nishino Ichizo,Murata Miho

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation;Nonaka;Ann Neurol,1985

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

3. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy;Nishino;Neurology,2002

4. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001

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. A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases;Gene;2024-11

2. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies;Neurology;2024-08-27

3. Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy;Genes;2024-04-11

4. Computational insights into dynamics and conformational stability of N-acetylmannosamine kinase mutations;Journal of Biomolecular Structure and Dynamics;2024-03-19

5. Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan;Orphanet Journal of Rare Diseases;2023-08-11

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