Associated Papers
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?
Kabzińska D et al.
Genes, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB et al.
Journal of Inherited Metabolic Disease, 2022
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
Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report.
Rodriguez-Hernandez A et al.
Frontiers in Neurology, 2022
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
Binięda K et al.
International Journal of Molecular Sciences, 2021
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.
Kim HS et al.
Journal of Clinical Neurology (seoul, Korea), 2021
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
Rzepnikowska W et al.
Genes, 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
Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain.
Huber N et al.
Scientific Reports, 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
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Auranen M et al.
Neurogenetics, 2013
Mitochondria and peripheral neuropathies.
Vital A et al.
Journal of Neuropathology and Experimental Neurology, 2012
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C et al.
Journal of 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
Charcot-Marie-Tooth disease.
Reilly MM et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J et al.
Experimental Neurology, 2011
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.
Fusco C et al.
Journal of Child 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
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
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
Niemann A et al.
Neurobiology of Disease, 2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Cassereau J et al.
Neurogenetics, 2009
The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.
Palau F et al.
Advances in Experimental Medicine and Biology, 2009
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
Sevilla T et al.
Brain : a Journal of Neurology, 2008
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
Chung KW et al.
Journal of Human Genetics, 2008