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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
Roeben, Benjamin; Schüle, Rebecca; Ruf, Susanne; Bender, Benjamin; Alhaddad, Bader; Benkert, Tanja; Meitinger, Thomas; Reich, Selina; Böhringer, Judith; Langhans, Claus-Dieter; Vaz, Frédéric M; Wortmann, Saskia B; Marquardt, Thorsten; Haack, Tobias B; Krägeloh-Mann, Ingeborg; Schöls, Ludger; Synofzik, Matthis.
Afiliação
  • Roeben B; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.
  • Schüle R; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Ruf S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.
  • Bender B; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Alhaddad B; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Tübingen, Germany.
  • Benkert T; Department of Neuroradiology, University of Tübingen, Tübingen, Baden-Württemberg, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Reich S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Böhringer J; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Langhans CD; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Vaz FM; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.
  • Wortmann SB; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Tübingen, Germany.
  • Marquardt T; Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Haack TB; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, Noord Holland, The Netherlands.
  • Krägeloh-Mann I; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Schöls L; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Synofzik M; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
J Med Genet ; 55(1): 39-47, 2018 01.
Article em En | MEDLINE | ID: mdl-28916646
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidrolases de Éster Carboxílico / Paraplegia Espástica Hereditária / Sítios de Splice de RNA / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet 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: Hidrolases de Éster Carboxílico / Paraplegia Espástica Hereditária / Sítios de Splice de RNA / Mutação Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido