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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk-Him; Chiang, Diana; Clifford, David B; Cordelli, Duccio M; de Burca, Anna; Demic, Natasha; Desguerre, Isabelle; De Waele, Liesbeth; Di Fonzo, Alessio; Dunham, S Richard; Dyack, Sarah; Elmslie, Frances; Ferrand, Mickaël; Fisher, Gemma; Karimiani, Ehsan Ghayoor; Ghoumid, Jamal; Gibbon, Frances; Goel, Himanshu; Hilmarsen, Hilde T; Hughes, Imelda; Jacob, Anu; Jones, Elizabeth A; Kumar, Ram; Leventer, Richard J; MacDonald, Shelley; Maroofian, Reza; Mehta, Sarju G; Metz, Imke; Monfrini, Edoardo; Neumann, Daniela; Noetzel, Michael; O'Driscoll, Mary; Õunap, Katrin; Panzer, Axel.
Afiliación
  • Crow YJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Marshall H; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France.
  • Rice GI; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Seabra L; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
  • Jenkinson EM; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Université de Paris, Paris, France.
  • Baranano K; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
  • Battini R; Department of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Berger A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Blair E; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Blauwblomme T; Department of Neuropediatrics, Kliniken Nordoberpfalz AG, Germany.
  • Bolduc F; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Boddaert N; Paediatric Neurosurgery Department, Necker-Enfants Malades Hospital, APHP, Université de Paris, Paris, France.
  • Buckard J; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
  • Burnett H; Paediatric Radiology Department, Hôpital Necker Enfants Malades, AP-HP, University de Paris, INSERM U1163, Institut Imagine, Paris, France.
  • Calvert S; Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany.
  • Caumes R; HNEkidsRehab, Newcastle, New South Wales, Australia.
  • Ng AC; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.
  • Chiang D; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France.
  • Clifford DB; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
  • Cordelli DM; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
  • de Burca A; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Demic N; Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Italy.
  • Desguerre I; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • De Waele L; Department of Neurology, Vestfold Hospital, Tønsberg, Norway.
  • Di Fonzo A; Department of Paediatric Neurology, Université de Paris, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Dunham SR; Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Dyack S; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
  • Elmslie F; Foundation IRCCS Ca 'Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Ferrand M; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Fisher G; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Karimiani EG; Division of Medical Genetics, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Ghoumid J; South West Thames Regional Genetics Service, St George's, University of London, London, UK.
  • Gibbon F; Department of Neurology, CHRU Nancy, Nancy, France.
  • Goel H; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK.
  • Hilmarsen HT; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.
  • Hughes I; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
  • Jacob A; Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France.
  • Jones EA; Department of Paediatric Neurology, University Hospital of Wales, Cardiff, UK.
  • Kumar R; Hunter Genetics, Hunter New England Local Health District, Waratah, Australia.
  • Leventer RJ; School of Medicine and Public Health, University of Newcastle, Callaghan, Australia.
  • MacDonald S; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
  • Maroofian R; Department of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Mehta SG; Department of Neurology, The Walton Centre NHS Trust, Liverpool, UK.
  • Metz I; Department of Neurology, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
  • Monfrini E; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
  • Neumann D; Clinical Genetic Service, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Noetzel M; Department of Paediatric Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
  • O'Driscoll M; Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute, Melbourne, Australia.
  • Õunap K; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Panzer A; Maritime Medical Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada.
Am J Med Genet A ; 185(1): 15-25, 2021 01.
Article en En | MEDLINE | ID: mdl-33029936
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Calcinosis / ARN Nucleolar Pequeño / Leucoencefalopatías / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Calcinosis / ARN Nucleolar Pequeño / Leucoencefalopatías / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido