The distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of
diseases that share the common feature of a length-dependent predominantly motor …

Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle
weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord …

Blood-CNS barrier disruption is a hallmark of numerous neurological disorders, yet whether
barrier breakdown is sufficient to trigger neurodegenerative disease remains unresolved …

Dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor
potential vanilloid 4) cause diverse and largely distinct channelopathies, including inherited …

Axonal polyneuropathies are a frequent cause of progressive disability in the elderly.
Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory …

Objective: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients
with inherited axonal neuropathies. Methods: We screened for TRPV4 mutations in 169 …

Heterozygous missense mutations of transient receptor potential vanilloid 4 channel
(TRPV4) cause a spectrum of skeletal disorders, including brachyolmia …

The TRPV4-axonal neuropathy spectrum is a group of disorders presenting as a
predominantly motor axonal peripheral neuropathy, frequently in association with vocal cord …

Muscle MRI has an increasing role in diagnosis of inherited neuromuscular diseases, but no
features are known which reliably differentiate myopathic and neurogenic conditions. Using …

TRPV4 encodes a polymodal calcium‐permeable plasma membrane channel. Dominant
pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the …