Associated Papers
Expression of genetic peripheral neuropathies in South African children.
Raga SV et al.
Neuromuscular Disorders : Nmd, 2026
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Ando M et al.
Annals of Clinical and Translational Neurology, 2026
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
Alhazmi AS et al.
Neurosciences (riyadh, Saudi Arabia), 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
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.
Kodal LS et al.
European Journal of Neurology, 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
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Mitofusin 2 displays fusion-independent roles in proteostasis surveillance.
Joaquim M et al.
Nature Communications, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.
Cantarero L et al.
Research Square, 2024
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives.
Alberti C et al.
Neurobiology of Disease, 2024
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.
Elbert A et al.
Neurology. Genetics, 2024
A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.
Xu X et al.
Bmc Pediatrics, 2024
Lysosomal membrane contact sites: Integrative hubs for cellular communication and homeostasis.
Bandyopadhyay S et al.
Current Topics in Membranes, 2024
An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review.
Zhang Y et al.
Gene, 2023
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Babu K et al.
Ophthalmic Genetics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.
Baudou E et al.
Neuropediatrics, 2022
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Abati E et al.
Scientific Reports, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Pijuan J et al.
Frontiers in Neuroscience, 2022
The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
Zaman M et al.
Frontiers in Cell and Developmental Biology, 2022
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.
Comella M et al.
Case Reports in Pediatrics, 2022
Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders.
Pellino G et al.
Mitochondrion, 2021
Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth's Disease Type 2A.
Majorel-Beraud C et al.
Neuropediatrics, 2021
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical Genetics, 2021
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S et al.
Turkish Neurosurgery, 2021
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
Wu R et al.
Frontiers in Neuroscience, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.
Beręsewicz M et al.
Scientific Reports, 2018
Severe cognitive impairment in a patient with CMT2A.
Tomaselli PJ et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M et al.
Journal of the Peripheral Nervous System : Jpns, 2017
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.
Beręsewicz M et al.
Plos One, 2017
Mfn2 is Required for Mitochondrial Development and Synapse Formation in Human Induced Pluripotent Stem Cells/hiPSC Derived Cortical Neurons.
Fang D et al.
Scientific Reports, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016