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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings, Maartje; Schouten, Meyke I; van Gaalen, Judith; Meijer, Rowdy P P; de Bot, Susanne T; Kriek, Marjolein; Saris, Christiaan G J; van den Berg, Leonard H; van Es, Michael A; Zuidgeest, Dick M H; Elting, Mariet W; van de Kamp, Jiddeke M; van Spaendonck-Zwarts, Karin Y; Die-Smulders, Christine de; Brilstra, Eva H; Verschuuren, Corien C; de Vries, Bert B A; Bruijn, Jacques; Sofou, Kalliopi; Duijkers, Floor A; Jaeger, B; Schieving, Jolanda H; van de Warrenburg, Bart P; Kamsteeg, Erik-Jan.
Afiliação
  • Pennings M; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands.
  • Schouten MI; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands.
  • van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud university medical centre, Nijmegen, The Netherlands.
  • Meijer RPP; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands.
  • de Bot ST; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • Kriek M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Saris CGJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud university medical centre, Nijmegen, The Netherlands.
  • van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Zuidgeest DMH; Department of Neurology, Ikazia hospital, Rotterdam, The Netherlands.
  • Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universtiteit Amsterdam, Amsterdam, The Netherlands.
  • van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universtiteit Amsterdam, Amsterdam, The Netherlands.
  • van Spaendonck-Zwarts KY; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Die-Smulders C; Department of Human Genetics and research Institute GROW, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Brilstra EH; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Verschuuren CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • de Vries BBA; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands.
  • Bruijn J; Department of Pediatrics, Skaraborg Hospital, Skövde, Sweden.
  • Sofou K; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg Sweden, Gothenburg, Sweden.
  • Duijkers FA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Jaeger B; Department of Pediatric Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Schieving JH; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.
  • van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud university medical centre, Nijmegen, The Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands. Erik-jan.kamsteeg@radboudumc.nl.
Eur J Hum Genet ; 28(1): 40-49, 2020 01.
Article em En | MEDLINE | ID: mdl-31488895
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Cinesinas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda 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: Paraplegia Espástica Hereditária / Cinesinas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido