Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort-Reference-Cited by-同舟云学术

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Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort

Published:2023 Issue:5 Volume:71 Page:940
ISSN:0028-3886
Container-title:Neurology India
language:en
Short-container-title:Neurol India

Author:

Nagappa Madhu,Sharma Shivani,Govindaraj Periyasamy,Chickabasaviah YashaT,Siram Ramesh,Shroti Akhilesh,Seshagiri DoniparthiV,Debnath Monojit,Sinha Sanjib,Bindu ParayilS,Taly ArunB

Publisher

Medknow

Subject

Neurology (clinical),Neurology

Reference39 articles.

1. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy;Senderek;Am J Hum Genet,2003

2. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling;Stendel;Brain,2010

3. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4);Piscosquito;J Peripher Nerv Syst,2016

4. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy;Houlden;Neuromuscul Disord,2009

5. High frequency of SH3TC2 mutations in Czech HMSN I patients;Laššuthová;Clin Genet,2011

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease;Frontiers in Genetics;2024-06-06

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