DUSI, SABRINA

DUSI, SABRINA  

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Titolo Autore(i) Anno Periodico Editore Tipo File
Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation Hartig, Monika B.; Iuso, Arcangela; Haack, Tobias; Kmiec, Tomasz; Jurkiewicz, Elzbieta; Heim, Katharina; Roeber, Sigrun; Tarabin, Victoria; Dusi, Sabrina; Krajewska-Walasek, Malgorzata; Jozwiak, Sergiusz; Hempel, Maja; Winkelmann, Juliane; Elstner, Matthias; Oexle, Konrad; Klopstock, Thomas; Mueller-Felber, Wolfgang; Gasser, Thomas; Trenkwalder, Claudia; Tiranti, Valeria; Kretzschmar, Hans; Schmitz, Gerd; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger 2011-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes Venco, Paola; Dusi, Sabrina; Valletta, Lorella; Tiranti, Valeria 2014-01-01 BIOCHEMICAL SOCIETY TRANSACTIONS - 1.01 Articolo in rivista -
APOE epsilon-4 allele and cytokine production in Alzheimer's disease Olgiati P; Politis A; Malitas P; Albani D; Dusi S; Polito L; De Mauro S; Zisaki A; Piperi C; Stamouli E; Mailis A; Batelli S; Forloni G; De Ronchi D; Kalofoutis A; Liappas I; Serretti A 2010-01-01 INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY - 1.01 Articolo in rivista -
Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy Albani, Diego; Prato, Francesca; Fenoglio, Chiara; Batelli, Sara; Dusi, Sabrina; De Mauro, Stefania; Polito, Letizia; Lovati, Carlo; Galimberti, Daniela; Mariani, Claudio; Scarpini, Elio; Forloni, Gianluigi 2008-01-01 JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation Panteghini, Celeste; Zorzi, Giovanna; Venco, Paola; Dusi, Sabrina; Reale, Chiara; Brunetti, Dario; Chiapparini, Luisa; Zibordi, Federica; Siegel, Brigitte; Garavaglia, Barbara; Simonati, Alessandro; Bertini, Enrico; Nardocci, Nardo; Tiranti, Valeria 2012-01-01 SEMINARS IN PEDIATRIC NEUROLOGY - 1.01 Articolo in rivista -
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration Orellana, Daniel I; Santambrogio, Paolo; Rubio, Alicia; Yekhlef, Latefa; Cancellieri, Cinzia; Dusi, Sabrina; Giannelli, Serena G; Venco, Paola; Mazzara, Pietro G; Cozzi, Anna; Ferrari, Maurizio; Garavaglia, Barbara; Taverna, Stefano; Tiranti, Valeria; Broccoli, Vania; Levi, Sonia 2016-01-01 EMBO MOLECULAR MEDICINE - 1.01 Articolo in rivista -
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency Brea Calvo, Gloria; Haack, Tobias B.; Karall, Daniela; Ohtake, Akira; Invernizzi, Federica; Carrozzo, Rosalba; Kremer, Laura; Dusi, Sabrina; Fauth, Christine; Scholl Bürgi, Sabine; Graf, Elisabeth; Ahting, Uwe; Resta, Nicoletta; Laforgia, Nicola; Verrigni, Daniela; Okazaki, Yasushi; Kohda, Masakazu; Martinelli, Diego; Freisinger, Peter; Strom, Tim M.; Meitinger, Thomas; Lamperti, Costanza; Lacson, Atilano; Navas, Placido; Mayr, Johannes A.; Bertini, Enrico; Murayama, Kei; Zeviani, Massimo; Prokisch, Holger; Ghezzi, Daniele 2015-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation Dusi, Sabrina; Valletta, Lorella; Haack, Tobias B.; Tsuchiya, Yugo; Venco, Paola; Pasqualato, Sebastiano; Goffrini, Paola; Tigano, Marco; Demchenko, Nikita; Wieland, Thomas; Schwarzmayr, Thomas; Strom, Tim M.; Invernizzi, Federica; Garavaglia, Barbara; Gregory, Allison; Sanford, Lynn; Hamada, Jeffrey; Bettencourt, Conceição; Houlden, Henry; Chiapparini, Luisa; Zorzi, Giovanna; Kurian, Manju A.; Nardocci, Nardo; Prokisch, Holger; Hayflick, Susan; Gout, Ivan; Tiranti, Valeria 2014-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts Onesto, Elisa; Colombrita, Claudia; Gumina, Valentina; Borghi, Maria Orietta; Dusi, Sabrina; Doretti, Alberto; Fagiolari, Gigliola; Invernizzi, Federica; Moggio, Maurizio; Tiranti, VALERIA SONIA; Silani, Vincenzo; Ratti, Antonia 2016-01-01 ACTA NEUROPATHOLOGICA COMMUNICATIONS - 1.01 Articolo in rivista -
Interleukin-1α, interleukin-1β and tumor necrosis factor-α genetic variants and risk of dementia in the very old: Evidence from the "monzino 80-plus" prospective study Albani, Diego; Tettamanti, Mauro; Batelli, Sara; Polito, Letizia; Dusi, Sabrina; Ateri, Eleonora; Forloni, Gianluigi; Lucca, Ugo 2012-01-01 AGE - 1.01 Articolo in rivista -
Lack of Association between Interleukin-1 alpha rs1800587 Polymorphism and Alzheimer's Disease in Two Independent European Samples Serretti A.; Olgiati P.; Politis A.; Malitas P.; Albani D.; Dusi S.; Polito L.; De Mauro S.; Zisaki A.; Piperi C.; Liappas I.; Stamouli E.; Mailis A.; Atti A.R.; Morri M.; Ujkaj M.; Batelli S.; Forloni G.; Soldatos C.R.; Papadimitriou G.N.; De Ronchi D.; Kalofoutis A. 2009-01-01 JOURNAL OF ALZHEIMER'S DISEASE - 1.01 Articolo in rivista -
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Leoni, Valerio; Strittmatter, Laura; Zorzi, Giovanna; Zibordi, Federica; Dusi, Sabrina; Garavaglia, Barbara; Venco, Paola; Caccia, Claudio; Souza, Amanda L.; Deik, Amy; Clish, Clary B.; Rimoldi, Marco; Ciusani, Emilio; Bertini, Enrico; Nardocci, Nardo; Mootha, Vamsi K.; Tiranti, Valeria 2012-01-01 MOLECULAR GENETICS AND METABOLISM - 1.01 Articolo in rivista -
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients Santambrogio, Paolo; Dusi, Sabrina; Guaraldo, Michela; Rotundo, Luisa Ida; Broccoli, Vania; Garavaglia, Barbara; Tiranti, VALERIA SONIA; Levi, Sonia 2015-01-01 NEUROBIOLOGY OF DISEASE - 1.01 Articolo in rivista -
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model Brunetti, Dario; Dusi, Sabrina; Giordano, Carla; Lamperti, Costanza; Morbin, Michela; Fugnanesi, Valeria; Marchet, Silvia; Fagiolari, Gigliola; Sibon, Ody; Moggio, Maurizio; D'Amati, Giulia; Tiranti, Valeria 2014-01-01 BRAIN - 1.01 Articolo in rivista -
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in pank2 knock-out mouse model Brunetti, Dario; Dusi, Sabrina; Morbin, Michela; Uggetti, Andrea; Moda, Fabio; D'Amato, Ilaria; Giordano, Carla; D'Amati, Giulia; Cozzi, Anna; Levi, Sonia; Hayflick, Susan; Tiranti, Valeria 2012-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -