Disease: Charcot-Marie-Tooth disease- Type 2C
- 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
- An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
- Autosomal Dominant <em>TRPV4</em> Disorders
- Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction
- Channelopathies converge on TRPV4
- Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
- Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
- CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
- Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
- Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <em>MTMR2</em> Mutations and Implications in Membrane Trafficking
- HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration
- Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
- Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
- Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
- Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
- Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients
- Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family
- TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂
- TRPV4-mediated channelopathies