Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy-Reference-Cited by-同舟云学术

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Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

Published:2014-04-30 Issue:21 Volume:82 Page:1919-1926
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Echaniz-Laguna A.,Dubourg O.,Carlier P.,Carlier R.-Y.,Sabouraud P.,Pereon Y.,Chapon F.,Thauvin-Robinet C.,Laforet P.,Eymard B.,Latour P.,Stojkovic T.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 52 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. Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity—Single Center Study;Children;2024-05-27

2. Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice;Science Translational Medicine;2024-05-22

3. Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII;Frontiers in Pediatrics;2024-03-18

4. Hereditary Motor Neuropathy;Reference Module in Neuroscience and Biobehavioral Psychology;2024

5. The implementation and utility of clinical exome sequencing in a South African infant cohort;Frontiers in Genetics;2023-11-09

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