Associated Papers
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.
Kanwal S et al.
Bmc Medical Genomics, 2021
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Jerath NU et al.
Muscle & Nerve, 2018
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire EA et al.
Glia, 2013
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
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Gosselin I et al.
Neuromuscular Disorders : Nmd, 2008
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