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A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; Lo Buono, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo.
Afiliação
  • Giorgio E; Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
  • Vaula G; Department of Neurology, Città della Salute e della Scienza University Hospital, Torino, Italy.
  • Benna P; Department of Neurosciences 'Rita Levi Montalcini', University of Torino, Torino, Italy.
  • Lo Buono N; Department of Neurosciences and Mental Health, Città della Salute e della Scienza University Hospital, Torino, Piemonte, Italy.
  • Eandi CM; Department of Medical Sciences, Laboratory of Immunogenetics, University of Torino, Torino, Italy.
  • Dino D; San Raffaele Diabetes Research Institute (DRI), San Raffaele Hospital, Milano, Italy.
  • Mancini C; Department of Surgical Sciences, Eye Clinic, University of Torino, Torino, Italy.
  • Cavalieri S; Department of Neurosciences, Città della Salute e della Scienza University Hospital, Neuroradiology Unit, Torino, Italy.
  • Di Gregorio E; Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
  • Pozzi E; Medical Genetics, Città della Salute e della Scienza University Hospital, Torino, Italy.
  • Ferrero M; Medical Genetics, Città della Salute e della Scienza University Hospital, Torino, Italy.
  • Giordana MT; Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
  • Depienne C; Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
  • Brusco A; Department of Neurology, Città della Salute e della Scienza University Hospital, Torino, Italy.
J Neurol Neurosurg Psychiatry ; 88(10): 894-896, 2017 10.
Article em En | MEDLINE | ID: mdl-28473625
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Canais de Cloreto / Leucoencefalopatias / Homozigoto Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Canais de Cloreto / Leucoencefalopatias / Homozigoto Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article