Associated Papers
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Frezatti RSS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Wu C et al.
Annals of Clinical and Translational Neurology, 2022
35297556 (PubMed )
Supplement: ACN3-9-633-s001.pdf
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
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.
Yang M et al.
Nature Communications, 2019
30944321 (PubMed )
Supplement: 41467_2019_9469_MOESM5_ESM.xlsx › ST2
Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C.
de Oliveira CM et al.
Neuromuscular Disorders : Nmd, 2019
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
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
Houlden H et al.
Neuromuscular Disorders : Nmd, 2009
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Gosselin I et al.
Neuromuscular Disorders : Nmd, 2008
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J et al.
American Journal of Human Genetics, 2003
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