Associated Papers
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L et al.
Biology Open, 2023
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A et al.
Febs Open Bio, 2022
35509130 (PubMed )
Supplement: FEB4-12-1306-s001.xlsx › All_mutations
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.
Kim HS et al.
Journal of Clinical Neurology (seoul, Korea), 2021
Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
Chen CX et al.
Annals of Clinical and Translational Neurology, 2020
[Analysis of GDAP1 gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease].
Qin L et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2019
Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.
Pakhrin PS et al.
Journal of Neurology, 2018
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J et al.
Journal of Neurology, 2017
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
Chung KW et al.
Journal of the Peripheral Nervous System : Jpns, 2011
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