Associated Papers
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
40121276 (PubMed )
Supplement: 41598_2025_93702_MOESM1_ESM.pdf
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth's Disease Type 2A.
Majorel-Beraud C et al.
Neuropediatrics, 2021
Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.
Argente-Escrig H et al.
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
Severe bone microarchitecture deterioration in a family with hereditary neuropathy: evidence of the key role of the mechanostat.
Abdala R et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2020
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
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
28660751 (PubMed )
Supplement: JNS-22-191-s002.pdf
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM et al.
Neurology, 2011
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