Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.
Jaubert P et al.
European Journal of Neurology, 2025
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
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
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
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Yger M et al.
Journal of the Peripheral Nervous System : Jpns, 2012
High frequency of SH3TC2 mutations in Czech HMSN I patients.
Laššuthová P et al.
Clinical Genetics, 2011
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
Stendel C et al.
Brain : a Journal of Neurology, 2010
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
Roberts RC et al.
Human Molecular Genetics, 2010
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
Lupo V et al.
Human Molecular Genetics, 2009
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Gosselin I et al.
Neuromuscular Disorders : Nmd, 2008
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