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Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin, Güldal; Toptas-Hekimoglu, Bahar; Görmez, Zeliha; Gelisin, Özlem; Durmus, Hacer; Ergüner, Bekir; Demirci, Hüseyin; Sagiroglu, Mahmut S; Parman, Yesim; Deymeer, Feza; Yilmaz-Aydogan, Hülya; Pençe, Sadrettin; Bekircan-Kurt, Can Ebru; Tan, Ersin; Erdem-Özdamar, Sevim; Üstek, Duran; Giger, Urs; Öztürk, Oguz; Serdaroglu-Oflazer, Piraye.
Afiliação
  • Inal-Gültekin G; Department of Molecular Medicine, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey.
  • Toptas-Hekimoglu B; Department of Molecular Medicine, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey.
  • Görmez Z; The Scientific and Technological Research Council of Turkey (TUBITAK), Advanced Genomics and Bioinformatics Research Center (IGBAM), Kocaeli, Turkey.
  • Gelisin Ö; Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
  • Durmus H; Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
  • Ergüner B; The Scientific and Technological Research Council of Turkey (TUBITAK), Advanced Genomics and Bioinformatics Research Center (IGBAM), Kocaeli, Turkey.
  • Demirci H; The Scientific and Technological Research Council of Turkey (TUBITAK), Advanced Genomics and Bioinformatics Research Center (IGBAM), Kocaeli, Turkey.
  • Sagiroglu MS; The Scientific and Technological Research Council of Turkey (TUBITAK), Advanced Genomics and Bioinformatics Research Center (IGBAM), Kocaeli, Turkey.
  • Parman Y; Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
  • Deymeer F; Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
  • Yilmaz-Aydogan H; Department of Molecular Medicine, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey.
  • Pençe S; Department of Molecular Medicine, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey.
  • Bekircan-Kurt CE; Department of Neurology, Hacettepe University, School of Medicine, Ankara, Turkey.
  • Tan E; Department of Neurology, Hacettepe University, School of Medicine, Ankara, Turkey.
  • Erdem-Özdamar S; Department of Neurology, Hacettepe University, School of Medicine, Ankara, Turkey.
  • Üstek D; Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey.
  • Giger U; Section of Medical Genetics, University of Pennsylvania, Philadelphia, USA.
  • Öztürk O; Department of Molecular Medicine, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey.
  • Serdaroglu-Oflazer P; Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: pirayes@istanbul.edu.tr.
Neuromuscul Disord ; 27(11): 997-1008, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28967462
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo V / Testes Genéticos / Glicogênio Fosforilase Muscular / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Turquia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo V / Testes Genéticos / Glicogênio Fosforilase Muscular / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Turquia