About: Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

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About: Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing Goto Sponge NotDistinct Permalink

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scientific article published on 10 May 2012

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2012 (ast) наукова стаття, опублікована в травні 2012 (uk) scientific article published on 10 May 2012 (en) مقالة علمية نشرت في 10 مايو 2012 (ar) 2012 թվականի մայիսի 10-ին հրատարակված գիտական հոդված (hy)
publication date	wds:Q37078644-9B4C385C-CA7D-482A-92B5-CD92570B1388
publication date	2012-05-10 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37078644-67DB3F73-C4E1-44DE-8AC4-0E0320FD3EA5
language of work or name	English
cites work	wds:Q37078644-039334D9-FC14-4F17-B8D6-95E068BB169E wds:Q37078644-17FDAB6B-4FEF-4558-A48C-9127953C13E2 wds:Q37078644-21079347-BAED-4E22-AB3F-F1165C541238 wds:Q37078644-35FE26BF-2001-4A76-8183-D2AD85BF1C61 wds:Q37078644-3EE2B161-13C8-4D8C-97C3-AFE919CC8BB9 wds:Q37078644-45A02C5E-7196-41FB-9D7D-C47874C51AF1 wds:Q37078644-50936BCB-F300-4982-9A41-4534A30A21DB wds:Q37078644-5A211667-4A48-4DE4-8624-51907FFF088A wds:Q37078644-5F469030-8776-473B-B998-9738DBD1E5B1 wds:Q37078644-5F68C1C0-8C5E-42F6-A4E2-E59E58CC9B95 wds:Q37078644-6EBFDD47-C693-4F01-AC31-0AAAA3B4C2A2 wds:Q37078644-841FE6DB-48D1-4C20-8116-D4E04F8D6954 wds:Q37078644-975A556C-5919-4E6A-89A3-46D02D9B31A7 wds:Q37078644-97B6BE48-33AB-4AE2-9639-0046DA1AA22A wds:Q37078644-99207635-A4F8-40BE-986D-EF9D40C75F0F wds:Q37078644-9BE6D73F-131C-47CC-BA31-58200577D518 wds:Q37078644-B86F7565-2FE5-4083-BC66-BFE0899B862B wds:Q37078644-C0175A03-B1F0-4ED1-9393-7E3CDA6B9948 wds:Q37078644-CA218B32-E608-4854-A592-24416A2180E0 wds:Q37078644-CD06745B-7E4C-4617-821A-9E73C8B65922 wds:Q37078644-D00B618D-6B96-41D1-B891-73B8FB3F102E wds:Q37078644-D67556F0-9593-4A33-8ACB-6BF5FBF6EB13 wds:Q37078644-ED564E6E-5D26-420A-A864-1665062BE527 wds:Q37078644-EFE0098B-988F-4598-B866-ABD679E4FF13 wds:Q37078644-F22EE21E-9312-46E4-9F2B-2F922211D503
cites work	SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy Genetic and clinical aspects of Charcot-Marie-Tooth's disease Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease Reliability and validity of the CMT neuropathy score as a measure of disability. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Diagnosis and new treatments in genetic neuropathies. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Charcot-Marie-Tooth disease subtypes and genetic testing strategies Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2 Charcot-Marie-Tooth disease Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study Sorting out the inherited neuropathies. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy Charcot–Marie–Tooth disease in Northern England: Figure 1 High frequency of SH3TC2 mutations in Czech HMSN I patients The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK
author name string	wds:Q37078644-0456B3DA-A120-45D2-B7E7-1454D47FBC8F wds:Q37078644-06B2329A-58EA-4C1C-A8BF-1E139EB5A25C wds:Q37078644-14E33D7A-1042-480F-BA40-8240D35EAB07 wds:Q37078644-45409A6C-5E47-4554-841E-0718E0167A00 wds:Q37078644-47F9D40E-A5EC-4AF3-AE50-2B8E66D14D2B wds:Q37078644-5D129E9C-161A-4446-BB25-E9A759E964FA wds:Q37078644-5F57B0CB-0946-4D3B-BED7-F05CA7715C78 wds:Q37078644-6E416A9A-9C83-4FF0-ADBC-E7515AC658EA wds:Q37078644-88810E9D-FFD2-44B3-8DBA-ED455549E2D6 wds:Q37078644-8ECDD784-FF13-4379-8AC2-D7F84E5DFFCF wds:Q37078644-96006EA7-2F20-4C9E-8C43-BC22B26AB79E wds:Q37078644-A13F8176-FC81-4B0A-A07F-689E79FF6CD7 wds:Q37078644-B076C37A-05FC-46CE-B1BE-EA9C1F6A5A4F wds:Q37078644-BFC60983-D478-4395-AAA1-770BD3147B47 wds:Q37078644-EAA14382-9CDA-46A9-B0A6-1BE3F8C3F6CF
author name string	Henry Houlden Katherine Fawcett Mary Davis Gabrielle L Davidson James M Polke Yo-Tsen Liu Matilde Laura Julian C Blake Victoria Castleman Hadi Manji Amelie Pandraud Karen Bull Sinead M Murphy

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