GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Hereditary inclusion body myopathies;Argov,2010
2. GNE myopathy: new name and new mutation nomenclature;Huizing;Neuromuscul Disord,2014
3. GNE genotype explains 20% of phenotypic variability in GNE myopathy;Pogoryelova;Neurol Genet,2019
4. Mutation update for GNE gene variants associated with GNE myopathy;Celeste;Hum Mutat,2014
5. GNE myopathy: two clusters with history and several founder mutations;Argov;J Neuromuscul Dis,2015
Cited by 3 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. Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy;Biochemical Pharmacology;2024-05
2. Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases;Human Mutation;2024-01
3. GNE Myopathy;Current Clinical Neurology;2023
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