Associated Papers
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Relationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.
Borisova NR et al.
Biochemistry. Biokhimiia, 2025
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Shumeri E et al.
Journal of the Peripheral Nervous System : Jpns, 2025
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.
Başdemirci M et al.
Molecular Syndromology, 2025
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
Li Z et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A et al.
Pediatric Neurology, 2024
Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.
Manzoor U et al.
Journal, Genetic Engineering & Biotechnology, 2023
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L et al.
Biology Open, 2023
Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.
Sutinen A et al.
Plos One, 2023
Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.
Sutinen A et al.
Febs Open Bio, 2022
Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.
Jerath NU
Case Reports in Medicine, 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig H et al.
Annals of Clinical and Translational Neurology, 2021
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Cantarero L et al.
Human Molecular Genetics, 2021
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.
Kim HS et al.
Journal of Clinical Neurology (seoul, Korea), 2021
One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.
Xie Y et al.
Frontiers in Neurology, 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
Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
Googins MR et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.
Cassereau J et al.
Experimental Neurology, 2020
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
Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.
González-Sánchez P et al.
International Journal of Molecular Sciences, 2019
Schwann Cell and the Pathogenesis of Charcot-Marie-Tooth Disease.
Murakami T et al.
Advances in Experimental Medicine and Biology, 2019
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Masingue M et al.
Neurogenetics, 2018
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.
Saghira C et al.
Human Mutation, 2018
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
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell GT et al.
Neurology. Genetics, 2018
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A et al.
Clinical Genetics, 2017
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.
Al-Ghamdi F et al.
Neuromuscular Disorders : Nmd, 2017
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J et al.
Journal of Neurology, 2017
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
Fu J et al.
Neuromuscular Disorders : Nmd, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R et al.
Scientific Reports, 2017
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
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
Ho CC et al.
International Journal of Molecular Sciences, 2017
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.
González-Sánchez P et al.
Scientific Reports, 2017
Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain.
Huber N et al.
Scientific Reports, 2016
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S et al.
Clinical Genetics, 2016
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 (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Martin AM et al.
Colombia Medica (cali, Colombia), 2015
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015