About: Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients

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About: Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	artículu científicu espublizáu en 2012 (ast) vědecký článek publikovaný v roce 2012 (cs) article scientifique publié en 2012 (fr) наукова стаття, опублікована в липні 2012 (uk) 2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած (hyw) 2012 թվականի հուլիսին հրատարակված գիտական հոդված (hy) wetenschappelijk artikel (gepubliceerd op 2012/07/15) (nl) vedecký článok (publikovaný 2012/07/15) (sk) مقالة علمية (نشرت في 15-7-2012) (ar) scientific journal article (en) im Juli 2012 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28118970-9AFEAC7D-4828-43E0-AC83-8F6A864A1824
publication date	2012-07-15 00:00:00Z (xsd:dateTime)
author name string	wds:Q28118970-14602297-64DD-4610-806F-A3416648E73A wds:Q28118970-309FE9B4-8D8E-48DD-938D-509769FD8779 wds:Q28118970-38331DDD-C9A6-47D8-8783-65D7C60E35F0 wds:Q28118970-6E319F2A-5447-40B2-BF37-7F30F42885B7 wds:Q28118970-7378EC60-D313-4716-9B69-9C4FE3F29D9A wds:Q28118970-8E35CA9B-6572-4323-A8F9-688459125594 wds:Q28118970-A617B00A-E0CA-409A-82AE-437306B186A2 wds:Q28118970-AA606C62-A954-4B3B-857D-93F434335081 wds:Q28118970-C4012D71-5F4D-4696-97C0-187A8847D013 wds:Q28118970-D88A0883-F421-45C0-8B20-D14648F403D4 wds:Q28118970-D9C6AA3B-E9D9-4B3D-9B66-61E9EFF45666 wds:Q28118970-FB9F4F9F-29C1-4B73-A60A-B6A76627CD37
OpenCitations bibliographic resource ID	wds:Q28118970-1835C7E0-A323-4958-A220-76DB9C6EA8A2
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4761662
author name string	Valeria Sansone Elisa Redaelli Enzo Wanke Anna Modoni Monika Raimondi Sabrina Lucchiari Gianna Ulzi Marzia Lecchi Grazia D'Angelo Domenica Saccomanno Giacomo P. Comi Eleonora Corti
OpenCitations bibliographic resource ID	4761662
rdfs:label	Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (en) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (nl) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (ast)
skos:prefLabel	Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (en) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (nl) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (ast)
name	Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (en) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (nl) Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (ast)
author	wds:Q28118970-2A85CBB9-4989-441E-B56E-39D498002096 wds:Q28118970-625B671D-068B-4F22-ABC6-3949A58E9EC6 wds:Q28118970-656CCE13-252D-44B2-9F20-F9D4AB3EB61A wds:Q28118970-7132AEFE-95D6-4E51-9B32-A7E44A7AD7EB wds:Q28118970-FACD2B56-EA5A-47EE-B58A-43E5F1BD7F51
author	Francesca Magri Nereo Bresolin Stefania Corti Giovanni Meola Serena Pagliarani
title	wds:Q28118970-08EFF51D-005D-4224-B55D-5D5C6CD80D87
title	Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients (en)
page(s)	wds:Q28118970-6A89C9CE-7891-4D57-90AD-AB1C444E2002
page(s)	65–71
instance of	wds:Q28118970-1D5C58E3-D7A9-40E8-8C6F-606A9011298C
instance of	scholarly article
main subject	wds:Q28118970-116D300B-2408-4488-A927-5DDDA2D533C8 wds:Q28118970-3677050F-79CB-48A2-B7E0-D941479D7158 wds:Q28118970-6214D1EF-882B-4511-B4FB-768EFC8FC824 wds:Q28118970-7F368CD5-E1EB-48EB-8CCB-316D0B0D5529
main subject	Italy myotonia congenita chloride transmembrane transport Chloride voltage-gated channel 1
PubMed ID	wds:Q28118970-C659C1E1-1868-4B33-98F5-7CF0FC110551
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22521272
PubMed ID	22521272
published in	wds:Q28118970-E3A92716-DCB0-4405-AED6-A9F2A9C44A30
published in	Journal of the Neurological Sciences
issue	wds:Q28118970-61EF615D-CCC5-4AE1-A0DE-8215A88704FB
volume	wds:Q28118970-BF9C3E99-3E1C-44EC-8FDC-6907788E9275
issue	1-2
volume	318
DOI	wds:Q28118970-A05AD96A-F650-42C2-BF5E-3052D94921D9
DOI	http://dx.doi.org/10.1016/J.JNS.2012.03.024
DOI	10.1016/J.JNS.2012.03.024
Fatcat ID	wds:Q28118970-2EB52693-AA89-4ED6-9504-75586143876E
Fatcat ID	release_pyj3w73dtvhpjl4u5oox3p2qqi
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28118970
is cites work of	ClC-1 chloride channels: state-of-the-art research and future challenges. Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report. A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

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