Salvatore DiMauro
1973–2022 年に発表
- 147
- 論文数
- 33,388
- 被引用数
- 104
- h 指数
- 147
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology65.8%
- Medicine24.8%
- Neuroscience4.6%
- Immunology and Microbiology1.4%
- Nursing1.1%
- Agricultural and Biological Sciences0.6%
- その他1.7%
トピック
- Mitochondrial Function and Pathology18.4%
- Metabolism and Genetic Disorders9.6%
- ATP Synthase and ATPases Research6.7%
- Genetic Neurodegenerative Diseases2.3%
- Coenzyme Q10 studies and effects2.1%
- RNA modifications and cancer2%
- その他58.9%
共著者
- Michio Hirano42
- Eduardo Bonilla28
- Eric A. Schon26
- Sara Shanske26
- Ali Naini16
- Catarina M. Quinzii15
- Massimo Zeviani13
- Kurenai Tanji12
- Carlos T. Moraes10
- Leonardo Salviati10
- Darryl C. De Vivo9
- Mercy M. Davidson9
- Serenella Servidei9
- Armand F. Miranda8
- Caterina Garone8
- Michelangelo Mancuso8
- Arthur P. Hays7
- Carolyn M. Sue7
- Darryl C. DeVivo7
- Vamsi K. Mootha7
- Anne Lombès6
- Antoni L. Andreu6
- Claudio Bruno6
- Hasan O. Akman6
全論文
- Mitochondrial diseases
著者: Gráinne S. Gorman, Patrick F. Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R. Thorburn, Massimo Zeviani, Douglass M. Turnbull - Nature Reviews Disease Primers 2016 被引用: 1,534
- Human mitochondrial DNA: roles of inherited and somatic mutations
著者: Eric A. Schon, Salvatore DiMauro, Michio Hirano - Nature Reviews Genetics 2012 被引用: 749
- Mitochondrial Respiratory-Chain Diseases
著者: Salvatore DiMauro, Eric A. Schon - New England Journal of Medicine 2003 被引用: 1,646
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
著者: Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro - Genetics in Medicine 2014 被引用: 607
- Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation
著者: Т. Н. Тарасенко, Susan E. Pacheco, Mary Kay Koenig, Julio Gómez‐Rodríguez, Senta M. Kapnick, Francisca Díaz, Patricia M. Zerfas, Emanuele Barca, Jessica Sudderth, Ralph J. DeBerardinis, Raúl Covián, Robert S. Balaban, Salvatore DiMauro, Peter J. McGuire - Cell Metabolism 2017 被引用: 175
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
著者: Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L. Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha - Science Translational Medicine 2012 被引用: 474
- The clinical maze of mitochondrial neurology
著者: Salvatore DiMauro, Eric A. Schon, Valério Carelli, Michio Hirano - Nature Reviews Neurology 2013 被引用: 345
- Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
著者: Ichizo Nishino, Jin Fu, Kurenai Tanji, Takeshi Yamada, Sadatomo Shimojo, Tateo Koori, Marina Mora, Jack E. Riggs, Shin J. Oh, Yasutoshi Koga, Carolyn M. Sue, Ayaka Yamamoto, Nobuyuki Murakami, Sara Shanske, Edward Byrne, Eduardo Bonilla, Ikuya Nonaka, Salvatore DiMauro, Michio Hirano - Nature 2000 被引用: 947
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
著者: Steven G. Pavlakis, Peter C. Phillips∥, Salvatore DiMauro, Darryl C. De Vivo, Lewis P. Rowland - Annals of Neurology 1984 被引用: 1,198
- Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
著者: Michela Ripolone, Dario Ronchi, Raffaella Violano, Dionis Vallejo, Gigliola Fagiolari, Emanuele Barca, Valeria Lucchini, Irene Colombo, Luísa Villa, Angela Berardinelli, Umberto Balottin, Lucía Morandi, Marina Mora, Andreina Bordoni, Francesco Fortunato, Stefania Corti, Daniela Parisi, António Toscano, Monica Sciacco, Salvatore DiMauro, Giacomo P. Comi, Maurizio Moggio - JAMA Neurology 2015 被引用: 133
- Retrospective natural history of thymidine kinase 2 deficiency
著者: Caterina Garone, Robert W. Taylor, A. Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez‐González, Julie Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M.I. Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez‐Gómez, Sandeep Jayawant, Neil D Thomas, Adnan Y. Manzur, Karin Kleinsteuber, Miguel Á. Martín, Timothy Kerr, Gráinne S. Gorman, Ewen W. Sommerville, Patrick F. Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga‐Garrido, Jana Domínguez‐Carral, C. Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua Kriger, Robert Schoenaker, Bruce Lubotsky Levin, John L.P. Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano - Journal of Medical Genetics 2018 被引用: 108
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
著者: Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani, Anne Lombès, Sara Shanske, Armand F. Miranda, Hirofumi Nakase, Eduardo Bonilla, Lineu César Werneck, Serenella Servidei, Ikuya Nonaka, Yasutoshi Koga, Alfred J. Spiro, A. Keith W. Brownell, Beny Schmidt, Donald L. Schotland, Mary L. Zupanc, Darryl C. DeVivo, Eric A. Schon, Lewis P. Rowland - New England Journal of Medicine 1989 被引用: 1,025
- Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations
著者: Luís C. López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano - The American Journal of Human Genetics 2006 被引用: 394
- Mitochondrial diseases in North America
著者: Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, Sumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli‐Cunningham, Marni J. Falk, Amy Goldstein, Mark A. Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano - Neurology Genetics 2020 被引用: 75
- Inclusion body myositis and myopathies
著者: Robert C. Griggs, Valerie Askanas, Salvatore DiMauro, Andrew Engel, George Karpati, Jerry R. Mendell, Lewis P. Rowland - Annals of Neurology 1995 被引用: 836
- Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome
著者: Michael Schlame, Jeffrey A. Towbin, Paul M. Heerdt, Roswitha Jehle, Salvatore DiMauro, Thomas J. J. Blanck - Annals of Neurology 2002 被引用: 277
- Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
著者: Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack, Susanne Schöler, Viktoriya Peeva, Katharina Danhauser, Kerstin Hallmann, Gábor Zsurka, Joanna Rorbach, Arcangela Iuso, Thomas Wieland, Monica Sciacco, Dario Ronchi, Giacomo P. Comi, Maurizio Moggio, Catarina M. Quinzii, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Thomas Klopstock, Tim M. Strom, Thomas Meitinger, Michal Minczuk, Wolfram S. Kunz, Holger Prokisch - Nature Genetics 2013 被引用: 235
- Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects
著者: Luís C. López, Catarina M. Quinzii, Estela Área-Gómez, Ali Naini, Shamima Rahman, Markus Schuelke, Leonardo Salviati, Salvatore DiMauro, Michio Hirano - PLoS ONE 2010 被引用: 123
- A Direct Repeat Is a Hotspot for Large-Scale Deletion of Human Mitochondrial DNA
著者: Eric A. Schon, Rosario Rizzuto, Carlos T. Moraes, Hirofumi Nakase, Massimo Zeviani, Salvatore DiMauro - Science 1989 被引用: 585
- MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
著者: Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra, Franco Carrara, Pio D’Adamo, Sarah E. Calvo, Renè Massimiliano Marsano, Claudia Donnini, Hans Weiher, Pietro Strisciuglio, Rossella Parini, Emmanuelle Sarzi, Alicia Chan, Salvatore DiMauro, Agnès Rötig, Paolo Gasparini, Iliana Ferrero, Vamsi K. Mootha, Valeria Tiranti, Massimo Zeviani - Nature Genetics 2006 被引用: 418
- Mitochondrial DNA and disease
著者: Salvatore DiMauro, Guido Davidzon - Annals of Medicine 2005 被引用: 365
- Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
著者: Mariko Taniguchi‐Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, Chih‐Chieh Yu, Kouhei Mori, Tetsuya Oda, Atsushi Kuga, Hiroki Kurahashi, Hasan O. Akman, Salvatore DiMauro, Ryuji Kaji, Toshifumi Yokota, Shin’ichi Takeda, Tatsushi Toda - Nature 2011 被引用: 186
- Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ 10 deficiency
著者: Catarina M. Quinzii, Luís C. López, Jakob Von‐Moltke, Ali Naini, Sindu Krishna, Markus Schuelke, Leonardo Salviati, Plácido Navas, Salvatore DiMauro, Michio Hirano - The FASEB Journal 2008 被引用: 167
- Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
著者: Irini Manoli, Justin R. Sysol, Lingli Li, Pascal Houillier, Caterina Garone, Cindy Wang, Patricia M. Zerfas, Kristina Cusmano‐Ozog, Sarah P. Young, Niraj Trivedi, Jun Cheng, Jennifer L. Sloan, Randy J. Chandler, Mones Abu‐Asab, Maria Tsokos, Abdel Elkahloun, Seymour Rosen, Gregory M. Enns, Gerard T. Berry, Victoria Hoffmann, Salvatore DiMauro, Jürgen Schnermann, Charles P. Venditti - National Academy of Sciences, Proceedings of the National Academy of Sciences 2013 被引用: 119
