Associated Papers
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Frezatti RSS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.
Shchagina O et al.
Frontiers in Genetics, 2024
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
Vilela J et al.
Frontiers in Molecular Neuroscience, 2022
36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF
Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.
Kanwal S et al.
Bmc Medical Genomics, 2021
Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.
Duan X et al.
Frontiers in Neurology, 2021
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
Yuan JH et al.
Journal of Human Genetics, 2018
Phenotypic variability of CMT4C in a French-Canadian kindred.
Varley TL et al.
Muscle & Nerve, 2015
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Gosselin I et al.
Neuromuscular Disorders : Nmd, 2008
First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities.
Kalane UD et al.
Neurology India, 0
Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.
Grewal RP et al.
Case Reports in Neurology, 0
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