GNE myopathy: New name and new mutation nomenclature-Reference-Cited by-同舟云学术

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GNE myopathy: New name and new mutation nomenclature

Published:2014-05 Issue:5 Volume:24 Page:387-389
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Huizing Marjan,Carrillo-Carrasco Nuria,Malicdan May Christine V.,Noguchi Satoru,Gahl William A.,Mitrani-Rosenbaum Stella,Argov Zohar,Nishino Ichizo

Publisher

Elsevier BV

Subject

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

Reference8 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. Hereditary inclusion body myopathy maps to chromosome 9p1-q1;Mitrani-Rosenbaum;Hum Mol Genet,1996

4. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9;Ikeuchi;Ann Neurol,1997

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

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

2. GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort;Journal of Neuromuscular Diseases;2024-09-03

3. Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women;Clinical Pharmacology in Drug Development;2024-06-20

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

5. Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia;Muscle & Nerve;2024-04

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