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Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
van Dijk, Tessa; Rudnik-Schöneborn, Sabine; Senderek, Jan; Hajmousa, Ghazaleh; Mei, Hailiang; Dusl, Marina; Aronica, Eleonora; Barth, Peter; Baas, Frank.
Afiliação
  • van Dijk T; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Senderek J; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
  • Hajmousa G; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
  • Mei H; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Dusl M; Sequencing Analysis Support Core, Leiden University Medical Center, Leiden, The Netherlands.
  • Aronica E; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
  • Barth P; Department of (Neuro) Pathology, Academic Medical Center, Amsterdam, The Netherlands.
  • Baas F; Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Brain ; 140(8): e46, 2017 08 01.
Article em En | MEDLINE | ID: mdl-28637197
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Doenças Cerebelares / Proteínas de Transporte de Fosfato / Proteínas Mitocondriais / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Doenças Cerebelares / Proteínas de Transporte de Fosfato / Proteínas Mitocondriais / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda