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ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio, Eleonora; Borroni, Barbara; Giorgio, Elisa; Lacerenza, Daniela; Ferrero, Marta; Lo Buono, Nicola; Ragusa, Neftj; Mancini, Cecilia; Gaussen, Marion; Calcia, Alessandro; Mitro, Nico; Hoxha, Eriola; Mura, Isabella; Coviello, Domenico A; Moon, Young-Ah; Tesson, Christelle; Vaula, Giovanna; Couarch, Philippe; Orsi, Laura; Duregon, Eleonora; Papotti, Mauro Giulio; Deleuze, Jean-François; Imbert, Jean; Costanzi, Chiara; Padovani, Alessandro; Giunti, Paola; Maillet-Vioud, Marcel; Durr, Alexandra; Brice, Alexis; Tempia, Filippo; Funaro, Ada; Boccone, Loredana; Caruso, Donatella; Stevanin, Giovanni; Brusco, Alfredo.
Affiliation
  • Di Gregorio E; Department of Medical Sciences, University of Torino, 10126 Torino, Italy; Medical Genetics Unit, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy.
  • Borroni B; Department of Neurology, University of Brescia, 25100 Brescia, Italy.
  • Giorgio E; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Lacerenza D; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Ferrero M; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Lo Buono N; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Ragusa N; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Mancini C; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Gaussen M; Institut National de la Santé et de la Recherche Médicale U1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris 6) UMR_S 1127, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, Fr
  • Calcia A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Mitro N; Department of Pharmacological and Biomolecular Sciences, University of Milano, 20133 Milano, Italy.
  • Hoxha E; Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.
  • Mura I; Laboratory of Human Genetics, Galliera Hospital, 16128 Genova, Italy.
  • Coviello DA; Laboratory of Human Genetics, Galliera Hospital, 16128 Genova, Italy.
  • Moon YA; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.
  • Tesson C; Institut National de la Santé et de la Recherche Médicale U1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris 6) UMR_S 1127, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, Fr
  • Vaula G; Neurologic Division 1, Department of Neuroscience and Mental Health, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy.
  • Couarch P; Institut National de la Santé et de la Recherche Médicale U1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris 6) UMR_S 1127, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, Fr
  • Orsi L; Neurologic Division 1, Department of Neuroscience and Mental Health, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy.
  • Duregon E; Department of Oncology, University of Torino at San Luigi Hospital, 10043 Orbassano, Italy.
  • Papotti MG; Department of Oncology, University of Torino at San Luigi Hospital, 10043 Orbassano, Italy.
  • Deleuze JF; Centre National de Génotypage, 91057 Evry, France.
  • Imbert J; Transcriptomic and Genomic Marseille-Luminy platform, Technological Advances for Genomics and Clinics Laboratory, Institut National de la Santé et de la Recherche Médicale UMR_S 1090, Aix-Marseille University, 13009 Marseille, France.
  • Costanzi C; Department of Neurology, University of Brescia, 25100 Brescia, Italy.
  • Padovani A; Department of Neurology, University of Brescia, 25100 Brescia, Italy.
  • Giunti P; Department of Molecular Neuroscience, University College London Institute of Neurology, WC1 N3BG London, UK.
  • Maillet-Vioud M; Centre Hospitalier General de Montlucon, 03113 Montluçon, France.
  • Durr A; Institut National de la Santé et de la Recherche Médicale U1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris 6) UMR_S 1127, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, Fr
  • Brice A; Institut National de la Santé et de la Recherche Médicale U1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris 6) UMR_S 1127, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, Fr
  • Tempia F; Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.
  • Funaro A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Boccone L; Ospedale Regionale Microcitemie, Azienda Unità Sanitaria Locale 8, 09121 Cagliari, Italy.
  • Caruso D; Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.
  • Stevanin G; Institut National de la Santé et de la Recherche Médicale U1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (Paris 6) UMR_S 1127, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, Fr
  • Brusco A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy; Medical Genetics Unit, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy. Electronic address: alfredo.brusco@unito.it.
Am J Hum Genet ; 95(2): 209-17, 2014 Aug 07.
Article de En | MEDLINE | ID: mdl-25065913
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Acetyltransferases / Ataxies spinocérébelleuses / Métabolisme lipidique / Mutation Limites: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Pays/Région comme sujet: Europa Langue: En Journal: Am J Hum Genet Année: 2014 Type de document: Article Pays d'affiliation: Italie Pays de publication: États-Unis d'Amérique
Texte intégral
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Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Acetyltransferases / Ataxies spinocérébelleuses / Métabolisme lipidique / Mutation Limites: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Pays/Région comme sujet: Europa Langue: En Journal: Am J Hum Genet Année: 2014 Type de document: Article Pays d'affiliation: Italie Pays de publication: États-Unis d'Amérique