Associated Papers
Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
Cantarero L et al.
Biomolecules, 2026
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 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
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A et al.
Pediatric Neurology, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Kulsirichawaroj P et al.
Journal of Neuromuscular Diseases, 2024
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
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Palu E et al.
Neurogenetics, 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
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
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
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland.
Lehtilahti M et al.
Neurology. Genetics, 2021
Molecular epidemiology of hereditary ataxia in Finland.
Lipponen J et al.
Bmc Neurology, 2021
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
Binięda K et al.
International Journal of Molecular Sciences, 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
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
Rzepnikowska W et al.
Genes, 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
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A et al.
Clinical Genetics, 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
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.
González-Sánchez P et al.
Scientific Reports, 2017
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.
Marttila M et al.
Neuroepidemiology, 2017
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I et al.
Neuromuscular Disorders : Nmd, 2016
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
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
Ylikallio E et al.
European Journal of Human Genetics : Ejhg, 2014
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Kabzińska D et al.
Acta Biochimica Polonica, 2014
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Auranen M et al.
Neurogenetics, 2013
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Zimoń M et al.
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
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0