Your browser doesn't support javascript.
loading
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz, Frédéric M; McDermott, John H; Alders, Mariëlle; Wortmann, Saskia B; Kölker, Stefan; Pras-Raves, Mia L; Vervaart, Martin A T; van Lenthe, Henk; Luyf, Angela C M; Elfrink, Hyung L; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E; Yarwood, Rebecca; Lowe, Martin P; Lovell, Simon; Rogers, Richard C; van Kampen, Antoine H C; Ruiter, Jos P N; Wanders, Ronald J A; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth.
Afiliação
  • Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • McDermott JH; Manchester Centre for Genomics Medicine, St Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK.
  • Alders M; Laboratory Genome Diagnostics, Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • Wortmann SB; Institute of Human Genetics, Technical University München, Munich, Germany.
  • Kölker S; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Pras-Raves ML; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Vervaart MAT; Division of Pediatric Neurology and Metabolic Medicine, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • van Lenthe H; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • Luyf ACM; Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health research institute, Amsterdam UMC, University of Amsterdam, Amsterdam AZ, The Netherlands.
  • Elfrink HL; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • Metcalfe K; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • Cuvertino S; Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health research institute, Amsterdam UMC, University of Amsterdam, Amsterdam AZ, The Netherlands.
  • Clayton PE; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • Yarwood R; Manchester Centre for Genomics Medicine, St Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK.
  • Lowe MP; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Lovell S; Department of Pediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital Foundation Trust, Oxford Road, Manchester, UK.
  • Rogers RC; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • van Kampen AHC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Ruiter JPN; Greenwood Genetic Center, 14 Edgewood Drive, Greenville, SC, USA.
  • Ferdinandusse S; Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health research institute, Amsterdam UMC, University of Amsterdam, Amsterdam AZ, The Netherlands.
  • van Weeghel M; Biosystems Data Analysis, Swammerdam Institute for Life Sciences, University of Amsterdam, Science Park 904, XH Amsterdam, The Netherlands.
  • Engelen M; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
  • Banka S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology and Metabolism, Meibergdreef 9, AZ Amsterdam, The Netherlands.
Brain ; 142(11): 3382-3397, 2019 11 01.
Article em En | MEDLINE | ID: mdl-31637422
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfatidiletanolaminas / RNA Nucleotidiltransferases / Paraplegia Espástica Hereditária Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfatidiletanolaminas / RNA Nucleotidiltransferases / Paraplegia Espástica Hereditária Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda