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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
Veneziano, Liana; Mantuano, Elide; Catalli, Claudio; Gellera, Cinzia; Durr, Alexandra; Romano, Silvia; Spadaro, Maria; Frontali, Marina; Novelletto, Andrea.
Afiliação
  • Veneziano L; Institute of Translational Pharmacology, National Research Council of Italy, Rome, Italy.
  • Mantuano E; Institute of Translational Pharmacology, National Research Council of Italy, Rome, Italy.
  • Catalli C; Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
  • Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
  • Durr A; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (INSERM/UPMC Univ. Paris 6, UMR_S975; CNRS 7225), Pitié-Salpêtrière Hospital, Paris, France.
  • Romano S; Neurology and Centre for Experimental Neurological Therapies (CENTERS), S. Andrea Hospital Site, La Sapienza University of Rome, Rome, Italy.
  • Spadaro M; Institute of Translational Pharmacology, National Research Council of Italy, Rome, Italy.
  • Frontali M; Institute of Translational Pharmacology, National Research Council of Italy, Rome, Italy.
  • Novelletto A; Department of Biology, Tor Vergata University, Rome, Italy.
J Hum Genet ; 59(3): 153-7, 2014 Mar.
Article em En | MEDLINE | ID: mdl-24401908
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Haplótipos / Doenças Neurodegenerativas / Mutação Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Haplótipos / Doenças Neurodegenerativas / Mutação Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2014 Tipo de documento: Article