Associated Papers
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
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 2025
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 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
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
Modulating mitochondrial dynamics in CMT2A: a multifaceted platform for drug discovery and evaluation.
Liu Y et al.
Biophysics Reports, 2025
Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.
Xie Y et al.
Chinese Medical Journal, 2025
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.
Ando M et al.
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
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.
Zhang Y et al.
International Journal of Biological Macromolecules, 2024
MFN2 coordinates mitochondria motility with α-tubulin acetylation and this regulation is disrupted in CMT2A.
Kumar A et al.
Iscience, 2024
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB et al.
Journal of the Peripheral Nervous System : Jpns, 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
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Chevrollier A et al.
Brain : a Journal of Neurology, 2024
CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.
Das R et al.
Mitochondrion, 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
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
Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction.
Guo Y et al.
Nature Chemical Biology, 2023
MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A.
Kumar A et al.
Biorxiv : the Preprint Server for Biology, 2023
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.
Mann JP et al.
Elife, 2023
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.
Nguyen-Le TH et al.
Brain and Behavior, 2022
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
The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
Zaman M et al.
Frontiers in Cell and Developmental Biology, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth's Disease Type 2A.
Majorel-Beraud C et al.
Neuropediatrics, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
Wu R et al.
Frontiers in Neuroscience, 2021
The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.
Ma Y et al.
Frontiers in Neurology, 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
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach.
Rasheed MA et al.
Jpma. the Journal of the Pakistan Medical Association, 2020
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
Lin S et al.
Neurogenetics, 2020
Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans.
Soh MS et al.
Plos One, 2020
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
Liu X et al.
Frontiers in Neurology, 2020
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?
Bernard-Marissal N et al.
Cell Death & Disease, 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
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Lee M et al.
Annals of Neurology, 2017