Хайлтын үр дүнгүүд - Paola Venco

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  1. 1
    Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+

    Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress a... -н Paola Venco, Massimo Bonora, Carlotta Giorgi, Elena Papaleo, Arcangela Iuso, Holger Prokisch, Paolo Pinton, Valeria Tiranti

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    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 -н 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

    Хэвлэсэн 2016
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    Artigo
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  3. 3
    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations -н 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

    Хэвлэсэн 2011
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    Artigo
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  4. 4
    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 -н 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

    Хэвлэсэн 2013
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    Artigo
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  5. 5
    Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

    Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy -н Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A. Kurian, Susan Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horváth, Elke Holinski‐Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll, Thomas Klopstock

    Хэвлэсэн 2016
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    Artigo
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