Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
Author:
Publisher
Oxford University Press (OUP)
Subject
Neurology (clinical)
Link
http://academic.oup.com/brain/article-pdf/126/3/642/915240/awg068.pdf
Cited by 114 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. Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation;Journal of the Peripheral Nervous System;2024-05-05
2. MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes;Journal of Electrodiagnosis and Neuromuscular Diseases;2022-12-31
3. GDAP1 binds 4-hydroxynonenal, the toxic end-product of lipid peroxidation, using its GST-like binding pocket;2022-10-28
4. GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton;Communications Biology;2022-06-03
5. Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants;Case Reports in Medicine;2022-05-24
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