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Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov, Rauan; Wortmann, Saskia; Reid, Taryn; Dehghani, Mohammadreza; Vahidi Mehrjardi, Mohammad Yahya; Alhaddad, Bader; Wagner, Matias; Deschauer, Marcus; Cordts, Isabell; Fernandez-Murray, J Pedro; Treffer, Veronika; Metanat, Zahra; Pitman, Alan; Houlden, Henry; Meitinger, Thomas; Carroll, Christopher; McMaster, Christopher R; Maroofian, Reza.
Afiliación
  • Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
  • Wortmann S; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Reid T; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Dehghani M; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
  • Vahidi Mehrjardi MY; University Childrens Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Alhaddad B; Department of Pharmacology, Dalhousie University, Halifax, Canada.
  • Wagner M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Deschauer M; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Cordts I; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Fernandez-Murray JP; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Treffer V; Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany.
  • Metanat Z; Department of Neurology, Technical University of Munich, School of Medicine, Munich, Germany.
  • Pitman A; Department of Pharmacology, Dalhousie University, Halifax, Canada.
  • Houlden H; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Carroll C; Provincial Clinical Genetic Counselling Center, Zahedan University of Medical Sciences Zahedan, Iran.
  • McMaster CR; Genetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
  • Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
Brain ; 144(3): e30, 2021 04 12.
Article en En | MEDLINE | ID: mdl-33454747
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfatidiletanolaminas / Ataxia Cerebelosa Límite: Humans Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fosfatidiletanolaminas / Ataxia Cerebelosa Límite: Humans Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article