Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
about
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryImpaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutationsMultidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathiesDystrophia myotonica type 1 presenting with dysarthria: A case report and literature review.Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study.Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid.
P2860
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
description
2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
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im Mai 2015 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2015/09/01)
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vědecký článek publikovaný v roce 2015
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wetenschappelijk artikel (gepubliceerd op 2015/09/01)
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наукова стаття, опублікована у вересні 2015
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مقالة علمية (نشرت في سبتمبر 2015)
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name
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
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Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
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Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
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type
label
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@ast
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@en
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@nl
prefLabel
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@ast
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@en
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@nl
P2093
P2860
P50
P3181
P1476
Clinical, Molecular, and Funct ...... h Recessive Myotonia Congenita
@en
P2093
Antonio Toscano
Concetta Altamura
Diana Conte Camerino
Norma Licata
Olimpia Musumeci
P2860
P2888
P304
P3181
P356
10.1007/S12017-015-8356-8
P577
2015-05-26T00:00:00Z
P5875
P6179
1017913824