Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 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 spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 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
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 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
Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease.
Han G et al.
Journal of Personalized Medicine, 2025
Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.
Xie Y et al.
Chinese Medical Journal, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
Abati E et al.
Brain Communications, 2024
Diagnosis of Charcot-Marie-Tooth Disease in a Patient With Decreased Vision From Optic Atrophy and No Other Neurological Symptoms.
Chacko JA et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A et al.
Elife, 2023
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
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Mahungu AC et al.
Frontiers in Neurology, 2023
Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations.
Yenkin AL et al.
Communications Biology, 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
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
Sharma G et al.
Biology, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
Lin S et al.
Neurogenetics, 2020
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
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
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorefice L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Lee M et al.
Annals of Neurology, 2017
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Nam SH et al.
Molecules and Cells, 2016
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.
Li LX et al.
Oncotarget, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016