Associated Papers
Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
Cantarero L et al.
Biomolecules, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.
Ramírez RB et al.
Molecular Genetics & Genomic Medicine, 2025
Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.
Cantarero L et al.
Research Square, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Figueiredo FB et al.
Neuromuscular Disorders : Nmd, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT et al.
Brain : a Journal of Neurology, 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
Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.
Barreda Fierro R et al.
Neuromuscular Disorders : Nmd, 2020
Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients.
Faye PA et al.
Brain Sciences, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R et al.
Scientific Reports, 2017
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
Martí S et al.
Stem Cell Research, 2017
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Martin AM et al.
Colombia Medica (cali, Colombia), 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C et al.
Cell Reports, 2015
Neurogenetic disorders in the Basque population.
Martí Massó JF et al.
Annals of Human Genetics, 2015
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.
Kostera-Pruszczyk A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
Niemann A et al.
Brain : a Journal of Neurology, 2014
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R et al.
Neurology, 2013
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Tazir M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Mitochondria and peripheral neuropathies.
Vital A et al.
Journal of Neuropathology and Experimental Neurology, 2012
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Vital A et al.
Neuromuscular Disorders : Nmd, 2012
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 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
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
Kabzińska D et al.
Neurogenetics, 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
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Kabzińska D et al.
Neurogenetics, 2010
Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.
Benson B et al.
The Laryngoscope, 2010
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Leal A 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 mutation 439delA is associated with autosomal recessive CMT disease.
Georgiou DM et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
Niemann A et al.
The Journal of Cell Biology, 2005
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt R et al.
Journal of Medical Genetics, 2005
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
Di Maria E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
Stojkovic T et al.
Neuromuscular Disorders : Nmd, 2004
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
Marco A et al.
Molecular Biology and Evolution, 2004
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
Sevilla T et al.
Brain : a Journal of Neurology, 2003
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.
De Sandre-Giovannoli A et al.
Journal of Medical Genetics, 2003
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Azzedine H et al.
Neuromuscular Disorders : Nmd, 2003
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Senderek J et al.
Brain : a Journal of Neurology, 2003
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Boerkoel CF et al.
Annals of Neurology, 2003