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
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations.
Nguyen GTT et al.
Frontiers in Molecular Biosciences, 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
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
García-Sobrino T et al.
Neuromuscular Disorders : Nmd, 2017
Mitochondria and peripheral neuropathies.
Vital A et al.
Journal of Neuropathology and Experimental Neurology, 2012
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Cassereau J et al.
Orphanet Journal of Rare Diseases, 2011
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Zimoń M et al.
Neurology, 2011
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
Sivera R et al.
Journal of the Peripheral Nervous System : Jpns, 2010
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