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TRPV4-mediated channelopathies.
Verma P, Kumar A, Goswami C. Verma P, et al. Channels (Austin). 2010 Jul-Aug;4(4):319-28. doi: 10.4161/chan.4.4.12905. Epub 2010 Jul 6. Channels (Austin). 2010. PMID: 20676052 Review.
Transient receptor potential vanilloid sub type 4 (TRPV4) is a member of non-selective cation channel that is important for sensation of several physical and chemical stimuli and also involved in multiple physiological functions. Recently it gained immense medical and clin …
Transient receptor potential vanilloid sub type 4 (TRPV4) is a member of non-selective cation channel that is important for sensation …
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.
Chen H, Sun C, Zheng Y, Yin J, Gao M, Zhao C, Lin J. Chen H, et al. BMC Neurol. 2023 Jun 30;23(1):250. doi: 10.1186/s12883-023-03260-0. BMC Neurol. 2023. PMID: 37391745 Free PMC article. Review.
Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapulopero …
Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoke …
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
Kikuchi JK, Nagashima Y, Mano T, Ishiura H, Hayashi T, Shimizu J, Matsukawa T, Ichikawa Y, Takahashi Y, Karino S, Kanbayashi T, Kira J, Goto J, Tsuji S. Kikuchi JK, et al. J Mol Neurosci. 2021 Sep;71(9):1796-1801. doi: 10.1007/s12031-020-01784-5. Epub 2021 Jan 12. J Mol Neurosci. 2021. PMID: 33433851 Review.
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory and autonomic neuropathy type 1E (HSAN1E, MIM614116, https://www.omim.org/ ) and autosomal dominant cerebellar ataxi …
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory