A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference10 articles.
1. TRPV4-associated disorders;Schindler,1993
2. TRPV4 axonal neuropathy spectrum disorder;McEntagart;J Clin Neurosci,2012
3. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy;Echaniz-Laguna;Neurology,2014
4. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis;Dyck;Ann Neurol,1994
5. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies;Zimon;Brain,2010
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1. The implementation and utility of clinical exome sequencing in a South African infant cohort;Frontiers in Genetics;2023-11-09
2. Vitexin inhibits pain and itch behavior via modulating TRPV4 activity in mice;Biomedicine & Pharmacotherapy;2023-09
3. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review;BMC Neurology;2023-06-30
4. A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review;2023-01-30
5. Transient Receptor Potential Vanilloid 4: a Double-Edged Sword in the Central Nervous System;Molecular Neurobiology;2022-11-25
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