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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea, Charles A; Huq, Aamira; Lockhart, Paul J; Tai, Geneieve; Corben, Louise A; Yiu, Eppie M; Gurrin, Lyle C; Lynch, David R; Gelbard, Sarah; Durr, Alexandra; Pousset, Francoise; Parkinson, Michael; Labrum, Robyn; Giunti, Paola; Perlman, Susan L; Delatycki, Martin B; Evans-Galea, Marguerite V.
Afiliación
  • Galea CA; Medicinal Chemistry and Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
  • Huq A; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Lockhart PJ; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Tai G; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Corben LA; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Yiu EM; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Gurrin LC; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Lynch DR; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Gelbard S; School of Psychological Sciences, Monash University, Clayton, Victoria, Australia.
  • Durr A; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Pousset F; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Parkinson M; Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Labrum R; Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
  • Giunti P; Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Perlman SL; Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Delatycki MB; APHP, Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Evans-Galea MV; Institut du Cerveau et de la Moelle épinière (ICM), Pitié-Salpêtrière University Hospital, Paris, France.
Ann Neurol ; 79(3): 485-95, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26704351
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Pérdida de Heterocigocidad / Proteínas de Unión a Hierro / Diabetes Mellitus Tipo de estudio: Etiology_studies / Incidence_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Oceania Idioma: En Revista: Ann Neurol Año: 2016 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Pérdida de Heterocigocidad / Proteínas de Unión a Hierro / Diabetes Mellitus Tipo de estudio: Etiology_studies / Incidence_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Oceania Idioma: En Revista: Ann Neurol Año: 2016 Tipo del documento: Article País de afiliación: Australia