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
Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.
Jerath NU
Case Reports in Medicine, 2022
[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
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I et al.
Neuromuscular Disorders : Nmd, 2016
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
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
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
Crimella C et al.
Journal of Medical Genetics, 2010
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