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Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.
Mandrile, Giorgia; Di Gregorio, Eleonora; Goel, Himanshu; Giachino, Daniela; De Mercanti, Stefania; Iudicello, Marco; Rolando, Marco; Losa, Sabrina; De Marchi, Mario; Brusco, Alfredo.
Afiliación
  • Mandrile G; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
  • Di Gregorio E; Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
  • Goel H; Department of Medical Sciences, University of Torino, via Santena 19, Torino, 10126, Italy.
  • Giachino D; Medical Genetics, Città della Salute e della Scienza di Torino University Hospital, Torino, 10126, Italy.
  • De Mercanti S; Faculty of Health and Medicine, Callaghan and Hunter Genetics, University of Newcastle, Waratah, NSW2308, Australia.
  • Iudicello M; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
  • Rolando M; Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
  • Losa S; Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
  • De Marchi M; Neurology Division, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
  • Brusco A; Neurology Division, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
Cerebellum ; 15(2): 208-12, 2016 Apr.
Article en En | MEDLINE | ID: mdl-25998497
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cerebelo / Predisposición Genética a la Enfermedad / Ataxias Espinocerebelosas / Heterocigoto / Proteínas de Microfilamentos Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cerebelo / Predisposición Genética a la Enfermedad / Ataxias Espinocerebelosas / Heterocigoto / Proteínas de Microfilamentos Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2016 Tipo del documento: Article País de afiliación: Italia