Kết quả tìm kiếm - Paola Venco
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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 a... Bằng Paola Venco, Massimo Bonora, Carlotta Giorgi, Elena Papaleo, Arcangela Iuso, Holger Prokisch, Paolo Pinton, Valeria Tiranti
Được phát hành 2015Artigo -
2
Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration Bằng 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
Được phát hành 2016Artigo -
3
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Bằng 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
Được phát hành 2011Artigo -
4
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation Bằng 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
Được phát hành 2013Artigo -
5
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy Bằng 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
Được phát hành 2016Artigo
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Các môn học liên quan
Biology
Disease
Gene
Genetics
Medicine
Neurodegeneration
Neuroscience
Biochemistry
Pathology
ATP synthase
Amyotrophic lateral sclerosis
Apoptosis
Ataxia
Autophagy
Bioinformatics
Cell biology
Coenzyme A
Computational biology
Computer science
Dementia
Dystonia
Endoplasmic reticulum
Enzyme
Exome sequencing
Frontotemporal dementia
Internal medicine
Library science
Major facilitator superfamily
Metabolic disorder
Metabolic pathway