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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Van Bergen, Nicole J; Guo, Yiran; Rankin, Julia; Paczia, Nicole; Becker-Kettern, Julia; Kremer, Laura S; Pyle, Angela; Conrotte, Jean-François; Ellaway, Carolyn; Procopis, Peter; Prelog, Kristina; Homfray, Tessa; Baptista, Júlia; Baple, Emma; Wakeling, Matthew; Massey, Sean; Kay, Daniel P; Shukla, Anju; Girisha, Katta M; Lewis, Leslie E S; Santra, Saikat; Power, Rachel; Daubeney, Piers; Montoya, Julio; Ruiz-Pesini, Eduardo; Kovacs-Nagy, Reka; Pritsch, Martin; Ahting, Uwe; Thorburn, David R; Prokisch, Holger; Taylor, Robert W; Christodoulou, John; Linster, Carole L; Ellard, Sian; Hakonarson, Hakon.
Affiliation
  • Van Bergen NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
  • Guo Y; Department of Paediatrics, University of Melbourne, Parkville, Melbourne, Australia.
  • Rankin J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA USA.
  • Paczia N; University of Exeter Medical School, Exeter, UK.
  • Becker-Kettern J; Royal Devon Exeter NHS Foundation Trust, Exeter, UK.
  • Kremer LS; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
  • Pyle A; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
  • Conrotte JF; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Ellaway C; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
  • Procopis P; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Prelog K; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
  • Homfray T; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.
  • Baptista J; Discipline of Genetic Medicine, University of Sydney, Sydney, Australia.
  • Baple E; Neurology Department, Children's Hospital at Westmead, Sydney, Australia.
  • Wakeling M; Neurology Department, Children's Hospital at Westmead, Sydney, Australia.
  • Massey S; Discipline of Child and Adolescent Health, University of Sydney, Australia.
  • Kay DP; Medical Imaging Department, Children's Hospital at Westmead, Sydney, Australia.
  • Shukla A; Royal Brompton and St George's University Hospital, London, UK.
  • Girisha KM; University of Exeter Medical School, Exeter, UK.
  • Lewis LES; Royal Devon Exeter NHS Foundation Trust, Exeter, UK.
  • Santra S; University of Exeter Medical School, Exeter, UK.
  • Power R; Royal Devon Exeter NHS Foundation Trust, Exeter, UK.
  • Daubeney P; University of Exeter Medical School, Exeter, UK.
  • Montoya J; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
  • Ruiz-Pesini E; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg.
  • Kovacs-Nagy R; Department of Medical Genetics, Kasturba Medical College and Hospital, Manipal Academy of Higher Education, Manipal, India.
  • Pritsch M; Department of Medical Genetics, Kasturba Medical College and Hospital, Manipal Academy of Higher Education, Manipal, India.
  • Ahting U; Department of Paediatrics, Kasturba Medical College and Hospital, Manipal Academy of Higher Education, Manipal, India.
  • Thorburn DR; Birmingham Children's Hospital, Birmingham, UK.
  • Prokisch H; Royal Brompton Hospital, London, UK.
  • Taylor RW; Royal Brompton Hospital, London, UK.
  • Christodoulou J; National Heart and Lung Institute, Imperial College, London, UK.
  • Linster CL; Departamento de Bioquimica y Biologia Molecular y Celular- CIBER de Enfermedades Raras (CIBERER)-Instituto de Investigación Sanitaria de Aragón (IISAragon), Universidad Zaragoza, Zaragoza, Spain.
  • Ellard S; Departamento de Bioquimica y Biologia Molecular y Celular- CIBER de Enfermedades Raras (CIBERER)-Instituto de Investigación Sanitaria de Aragón (IISAragon), Universidad Zaragoza, Zaragoza, Spain.
  • Hakonarson H; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Brain ; 142(1): 50-58, 2019 01 01.
Article in En | MEDLINE | ID: mdl-30576410
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases / Hydro-Lyases Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2019 Document type: Article Affiliation country: Australia
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases / Hydro-Lyases Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2019 Document type: Article Affiliation country: Australia