CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
about
The puzzle of TRPV4 channelopathies.TRPV4-associated skeletal dysplasias.Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.Two cases of congenital myasthenic syndrome with vocal cord paralysisPhenotypic variability of TRPV4 related neuropathies.Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.Inherited peripheral neuropathies.Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Charcot-Marie-Tooth disease and pathways to molecular based therapies.Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literatureA New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorderAutosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
P2860
Q33355032-7242787E-BE19-43EB-BF16-B06885D95299Q34287791-8DA87DC6-170A-43EE-97B1-04F91A536514Q35153852-D5121348-9C12-4A1E-971E-11F06E1AF246Q35195659-78933A75-556B-4616-B139-0E36DD4A9018Q35680803-7F253829-4DB1-4250-B57F-2B4FDA954554Q36078457-953176C2-35A4-423A-95C3-0D9CB91818B9Q36514432-0FEECD91-0900-441C-8566-2EE7FE0A1A70Q36738586-868773C3-27D8-4C8C-807B-583EC29E5E45Q36822088-4BCA7F51-D110-44B6-AD21-8C6CAD5F9C65Q37372934-F6524EC1-5530-4AB6-A192-5266561F3C9BQ38042727-A6CB8B49-BAFF-4ACC-A916-7CF941CE8D3BQ38100659-04E614C3-1AFF-4130-BA38-306E26226633Q38201741-1840731E-E1F4-4949-A76E-18B772E2DD47Q39132433-2F2C17D5-049A-41BF-9509-B0460F7676BCQ47875680-8DD3BE26-E731-4D61-9426-CFAED6C841D7Q50545062-CEBF4049-43FD-46F4-8BB7-4ED39B421F5EQ57234082-5A677A13-3993-45C8-BEF9-A9BA877516E8Q57915582-C91A6415-3BAC-41EA-8258-356E31C3B2CFQ58861707-CD384093-BDE4-42D4-AA3A-1F5984D2A9FF
P2860
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@ast
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@en
type
label
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@ast
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@en
prefLabel
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@ast
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@en
P2093
P2860
P1433
P1476
CMT2C with vocal cord paresis ...... nd mutations in the TRPV4 gene
@en
P2093
M Matsushita
P2860
P304
P356
10.1212/WNL.0B013E3181FFE4BB
P407
P577
2010-11-01T00:00:00Z