Associated Papers
Expression of genetic peripheral neuropathies in South African children.
Raga SV et al.
Neuromuscular Disorders : Nmd, 2026
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 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
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
Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
Asif M et al.
Dna and Cell Biology, 2023
Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene.
Benslimane N et al.
Pharmaceuticals (basel, Switzerland), 2023
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Cantarero L et al.
Biology Open, 2023
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons.
Miressi F et al.
Biomedicines, 2021
Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
Xue H et al.
Journal of Genetics, 2021
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
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
Rzepnikowska W et al.
Genes, 2020
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
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
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 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 Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
Niemann A et al.
Brain : a Journal of Neurology, 2014
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
Demyelinating prenatal and infantile developmental neuropathies.
Yiu EM et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C et al.
Advances in Experimental Medicine and Biology, 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
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Baets J et al.
Brain : a Journal of Neurology, 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
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
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
Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
Sahin-Calapoglu N et al.
Neuromolecular Medicine, 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 mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
Xin B et al.
Clinical Genetics, 2008
Charcot-Marie-Tooth disease: a clinico-genetic confrontation.
Barisic N et al.
Annals of Human Genetics, 2008
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
Chung KW et al.
Journal of Human Genetics, 2008
A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.
Bouhouche A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2007
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
Ouvrier R et al.
Muscle & Nerve, 2007
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Bouhouche A et al.
Brain : a Journal of Neurology, 2007
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
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].
Zhang RX et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM et al.
Journal of Neuropathology and Experimental Neurology, 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
Autosomal recessive forms of Charcot-Marie-Tooth disease.
Vallat JM et al.
Current Neurology and Neuroscience Reports, 2004