Torthaí cuardaigh - Sabrina Dusi

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  1. 1
    Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

    Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients de réir Paolo Santambrogio, Sabrina Dusi, Michela Guaraldo, Luisa Ida Rotundo, Vania Broccoli, Barbara Garavaglia, Valeria Tiranti, Sonia Levi

    Foilsithe / Cruthaithe 2015
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  2. 2
    AND-1 fork protection function prevents fork resection and is essential for proliferation

    AND-1 fork protection function prevents fork resection and is essential for proliferation de réir Takuya Abe, Ryotaro Kawasumi, Michele Giannattasio, Sabrina Dusi, Yui Yoshimoto, Keiji Miyata, Koyuki Umemura, Kouji Hirota, Dana Branzei

    Foilsithe / Cruthaithe 2018
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  3. 3
    Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

    Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts de réir Elisa Onesto, Claudia Colombrita, Valentina Gumina, María Orietta Borghi, Sabrina Dusi, Alberto Doretti, Gigliola Fagiolari, Federica Invernizzi, Maurizio Moggio, Valeria Tiranti, Vincenzo Silani, Antonia Ratti

    Foilsithe / Cruthaithe 2016
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  4. 4
    Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

    Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model de réir Dario Brunetti, Sabrina Dusi, Carla Giordano, Costanza Lamperti, Michela Morbin, Valeria Fugnanesi, Silvia Marchet, Gigliola Fagiolari, Ody C.M. Sibon, Maurizio Moggio, Giulia d’Amati, Valeria Tiranti

    Foilsithe / Cruthaithe 2013
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  5. 5
    Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

    Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model de réir Dario Brunetti, Sabrina Dusi, Michela Morbin, Andrea Uggetti, Fabio Moda, Ilaria D’Amato, Carla Giordano, Giulia d’Amati, Anna Cozzi, Sonia Levi, Susan J. Hayflick, Valeria Tiranti

    Foilsithe / Cruthaithe 2012
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  6. 6
    Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration

    Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration de réir Daniel Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena Giannelli, Paola Venco, Pietro Giuseppe Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi

    Foilsithe / Cruthaithe 2016
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  7. 7
    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations de réir Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciusani, Enrico Bertini, Nardo Nardocci, Vamsi K. Mootha, Valeria Tiranti

    Foilsithe / Cruthaithe 2011
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  8. 8
    Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

    Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation de réir Monika Hartig, Arcangela Iuso, Tobias B. Haack, Tomasz Kmieć, Elżbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Małgorzata Krajewska‐Walasek, Sergiusz Jóźwiak, Maja Hempel, Juliane Winkelmann, Matthias Elstner, Konrad Oexle, Thomas Klopstock, Wolfgang Mueller‐Felber, Thomas Gasser, Claudia Trenkwalder, Valeria Tiranti, Hans A. Kretzschmar, Gerd Schmitz, Tim M. Strom, Thomas Meitinger, Holger Prokisch

    Foilsithe / Cruthaithe 2011
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  9. 9
    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation de réir Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, P Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan J. Hayflick, Ivan Gout, Valeria Tiranti

    Foilsithe / Cruthaithe 2013
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  10. 10
    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency de réir Gloria Brea‐Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura S. Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl‐Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Plácido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

    Foilsithe / Cruthaithe 2015
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