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Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?
Beck-Wödl, Stefanie; Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Rieß, Olaf; Mennel, Hans-Dieter; Latta, Elisabeth; Pagenstecher, Axel; Keber, Ursula.
Afiliação
  • Beck-Wödl S; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Harzer K; Department of Neuropediatrics and Neurometabolic Laboratory, Children's Hospital of the University of Tübingen, Tübingen, Germany.
  • Sturm M; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Buchert R; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Rieß O; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Mennel HD; Department of Neuropathology, Philipps University and University Hospital of Marburg, Baldingerstrasse, 35043, Marburg, Germany.
  • Latta E; Department of Pediatrics, University Hospital of Marburg, Marburg, Germany.
  • Pagenstecher A; Department of Neuropathology, Philipps University and University Hospital of Marburg, Baldingerstrasse, 35043, Marburg, Germany.
  • Keber U; Department of Neuropathology, Philipps University and University Hospital of Marburg, Baldingerstrasse, 35043, Marburg, Germany. keber@med.uni-marburg.de.
Acta Neuropathol Commun ; 6(1): 145, 2018 12 27.
Article em En | MEDLINE | ID: mdl-30591081
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Proteínas Serina-Treonina Quinases / Mutação Tipo de estudo: Etiology_studies Limite: Child / Female / Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Proteínas Serina-Treonina Quinases / Mutação Tipo de estudo: Etiology_studies Limite: Child / Female / Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido