Associated Papers
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
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.
Candayan A et al.
Neurology. Genetics, 2021
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.
Hong S et al.
Nature Communications, 2019
31311932 (PubMed )
Supplement: 41467_2019_10902_MOESM7_ESM.xlsx › Sheet1
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
Iguchi M et al.
Muscle & Nerve, 2013
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
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