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Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd, C A; Vanderver, A; Lockhart, P J; Helman, G; Pope, K; Uebergang, E; Love, C; Delatycki, M B; Thorburn, D; Mackay, M T; Peters, H; Kornberg, A J; Patel, C; Rodriguez-Casero, V; Waak, M; Silberstein, J; Sinclair, A; Nolan, M; Field, M; Davis, M R; Fahey, M; Scheffer, I E; Freeman, J L; Wolf, N I; Taft, R J; van der Knaap, M S; Simons, C; Leventer, R J.
Afiliação
  • Stutterd CA; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Austral
  • Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Lockhart PJ; Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Helman G; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • Pope K; Murdoch Children's Research Institute, Victoria, Australia.
  • Uebergang E; Murdoch Children's Research Institute, Victoria, Australia.
  • Love C; Murdoch Children's Research Institute, Victoria, Australia.
  • Delatycki MB; Murdoch Children's Research Institute, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Thorburn D; Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Mackay MT; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Peters H; Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia; Department of Metabolic Medicine, Royal Children's Hospital, Victoria, Australia.
  • Kornberg AJ; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Patel C; Genetic Health Queensland, Royal Brisbane and Women's Children's Hospital, South Brisbane Queensland, Australia; Centre for Children's Health Research, The University of Queensland, Queensland, Australia.
  • Rodriguez-Casero V; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Waak M; Centre for Children's Health Research, The University of Queensland, Queensland, Australia; Department of Neurosciences, Queensland Children's Hospital, Brisbane, Queensland, Australia.
  • Silberstein J; Princess Margaret Hospital, Perth, Western Australia, Australia.
  • Sinclair A; Department of Neurosciences, Queensland Children's Hospital, Brisbane, Queensland, Australia.
  • Nolan M; Department of Paediatric Neurology, Starship Children's Health, Auckland, New Zealand.
  • Field M; Genetics of Learning Disability (GOLD) Service, Hunter Genetics, Newcastle, New South Wales, Australia.
  • Davis MR; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.
  • Fahey M; Department of Paediatrics, Monash University, Victoria, Australia.
  • Scheffer IE; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084
  • Freeman JL; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia.
  • Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amster
  • Taft RJ; Illumina Inc, San Diego, CA, USA.
  • van der Knaap MS; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amster
  • Simons C; Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia. Electronic address: cas.simons@mcri.edu.au.
  • Leventer RJ; Murdoch Children's Research Institute, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Victoria, Australia; Department of Paediatrics, University of Melbourne, Victoria, Australia. Electronic address: richard.leventer@rch.org.au.
Eur J Med Genet ; 65(9): 104551, 2022 Sep.
Article em En | MEDLINE | ID: mdl-35803560
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucoencefalopatias / Substância Branca Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucoencefalopatias / Substância Branca Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article