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De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving, Jolanda H; de Bot, Susanne T; van de Pol, Laura A; Wolf, Nicole I; Brilstra, Eva H; Frints, Suzanna G; van Gaalen, Judith; Misra-Isrie, Mala; Pennings, Maartje; Verschuuren-Bemelmans, Corien C; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michèl A.
Afiliación
  • Schieving JH; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.
  • de Bot ST; Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.
  • van de Pol LA; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.
  • Wolf NI; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.
  • Brilstra EH; Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Frints SG; University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.
  • van Gaalen J; Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.
  • Misra-Isrie M; Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands.
  • Pennings M; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.
  • Verschuuren-Bemelmans CC; Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
  • Kamsteeg EJ; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
  • van de Warrenburg BP; University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands.
  • Willemsen MA; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
Brain ; 142(7): e31, 2019 07 01.
Article en En | MEDLINE | ID: mdl-31157359
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraplejía Límite: Humans Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Paraplejía Límite: Humans Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos