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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Ruaud, Lyse; Rice, Gillian I; Cabrol, Christelle; Piard, Juliette; Rodero, Mathieu; van Eyk, Lien; Boucher-Brischoux, Elise; de Noordhout, Alain Maertens; Maré, Ricardo; Scalais, Emmanuel; Pauly, Fernand; Debray, François-Guillaume; Dobyns, William; Uggenti, Carolina; Park, Ji Woo; Hur, Sun; Livingston, John H; Crow, Yanick J; Van Maldergem, Lionel.
Afiliação
  • Ruaud L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Rice GI; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
  • Cabrol C; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Rodero M; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.
  • van Eyk L; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.
  • Boucher-Brischoux E; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • de Noordhout AM; Department of Neurology, La Citadelle Hospital, Liège, Belgium.
  • Maré R; Department of Neurology, Regional Hospital, Braga, Portugal.
  • Scalais E; Department of Pediatric Neurology, National Hospital, Luxembourg City, Luxembourg.
  • Pauly F; Department of functional rehabilitation, National Hospital, Luxembourg City, Luxembourg.
  • Debray FG; Metabolic Unit, University of Liège, Liège, Belgium.
  • Dobyns W; Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, Seattle, Washington.
  • Uggenti C; Center for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Park JW; Biology Department in Morrissey College of Arts and Sciences, Boston College, Chestnut Hill, Massachusetts.
  • Hur S; Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts.
  • Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
  • Crow YJ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.
  • Van Maldergem L; Center for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Hum Mutat ; 39(8): 1076-1080, 2018 08.
Article em En | MEDLINE | ID: mdl-29782060
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraparesia Espástica / Helicase IFIH1 Induzida por Interferon Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraparesia Espástica / Helicase IFIH1 Induzida por Interferon Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França