Associated Papers
INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Yano C 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
De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Lee AJ et al.
Genes & Genomics, 2025
Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1
INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park JH et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
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