Kết quả tìm kiếm - Laura Melchionda
- Đang hiển thị 1 - 12 kết quả của 12
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SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease Bằng Andoni Echaniz‐Laguna, Daniele Ghezzi, Maïté Chassagne, Martine Mayençon, Sylvie Padet, Laura Melchionda, Isabelle Rouvet, Béatrice Lannes, Dominique Bozon, Philippe Latour, Massimo Zeviani, Bénédicte Mousson de Camaret
Được phát hành 2013Artigo -
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Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis Bằng Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto Burlina, Thomas Meitinger, Holger Prokisch, Ileana Ferrero, Massimo Zeviani
Được phát hành 2012Artigo -
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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy Bằng Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani
Được phát hành 2015Artigo -
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Structural Basis of Membrane Protein Chaperoning through the Mitochondrial Intermembrane Space Bằng Katharina Weinhäupl, Caroline Lindau, Audrey Hessel, Yong Wang, Conny Schütze, Tobias Jores, Laura Melchionda, Birgit Schönfisch, Hubert Kalbacher, Beate Bersch, Doron Rapaport, Martha Brennich, Kresten Lindorff‐Larsen, Nils Wiedemann, Paul Schanda
Được phát hành 2018Artigo -
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<i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies Bằng Daria Diodato, Laura Melchionda, Tobias B. Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A. Powell, Michal Minczuk, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi
Được phát hành 2014Artigo -
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Role of the small protein Mco6 in the mitochondrial sorting and assembly machinery Bằng Jon V. Busto, Iniyan Ganesan, Hannah Mathar, Conny Steiert, Eva F. Schneider, Sebastian Straub, Lars Ellenrieder, Jiyao Song, Sebastian B. Stiller, Philipp Lübbert, Ritwika Chatterjee, Jana Elsaesser, Laura Melchionda, Christina Schug, Fabian den Brave, Uwe Schulte, Till Klecker, Claudine Kraft, Bernd Fakler, Thomas Becker, Nils Wiedemann
Được phát hành 2024Artigo -
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<i>MTO1</i> Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast Bằng Enrico Baruffini, Cristina Dallabona, Federica Invernizzi, John W. Yarham, Laura Melchionda, Emma L. Blakely, Eleonora Lamantea, Claudia Donnini, Saikat Santra, Suresh Vijayaraghavan, Helen P. Roper, Alberto Burlina, Robert Kopajtich, Anett Walther, Tim M. Strom, Tobias B. Haack, Holger Prokisch, Robert W. Taylor, Ileana Ferrero, Massimo Zeviani, Daniele Ghezzi
Được phát hành 2013Artigo -
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Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations Bằng Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Colin A. Chapman, Alison Colley, Helena Rocha, Katrin Õunap, Raphael Schiffmann, Ettore Salsano, M. Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap
Được phát hành 2014Artigo -
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Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context Bằng Marcel Morgenstern, Christian D. Peikert, Philipp Lübbert, Ida Suppanz, Cinzia Klemm, Oliver Alka, Conny Steiert, Nataliia Naumenko, Alexander Benjamin Schendzielorz, Laura Melchionda, Wignand W. D. Mühlhäuser, Bettina L. Knapp, Jakob D. Busch, Sebastian B. Stiller, Stefan Dannenmaier, Caroline Lindau, Mariya Licheva, Christopher Eickhorst, Riccardo Galbusera, Ralf M. Zerbes, Michael T. Ryan, Claudine Kraft, Vera Kozjak‐Pavlovic, Friedel Drepper, Sven Dennerlein, Silke Oeljeklaus, Nikolaus Pfanner, Nils Wiedemann, Bettina Warscheid
Được phát hành 2021Artigo -
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Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency Bằng Laura Melchionda, Tobias B. Haack, Steven Hardy, Truus E. M. Abbink, Erika Fernández‐Vizarra, Eleonora Lamantea, Silvia Marchet, Lucia Morandi, Maurizio Moggio, Rosalba Carrozzo, Alessandra Torraco, Daria Diodato, Tim M. Strom, Thomas Meitinger, Pınar Tektürk, Zühal Yapıcı, Fathiya Al-Murshedi, René Stevens, Richard J. Rodenburg, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Graziella Uziel, Holger Prokisch, Robert W. Taylor, Enrico Bertini, Marjo S. van der Knaap, Daniele Ghezzi, Massimo Zeviani
Được phát hành 2014Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Mitochondrion
Medicine
Cell biology
Mutation
Biochemistry
Disease
Pathology
Mitochondrial DNA
Compound heterozygosity
Computational biology
Exome sequencing
Inner mitochondrial membrane
Internal medicine
Lactic acidosis
Leukoencephalopathy
Mitochondrial encephalomyopathy
Respiratory chain
Alpha-synuclein
Apoptosis
Ataxia
Atrophy
Autophagy
Bacterial outer membrane
Bioenergetics
Biophysics
Cardiology
Cell culture