Works by Hirano, Michio


Results: 122
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    Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

    Published in:
    Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae160
    By:
    • Manzoni, Eleonora;
    • Carli, Sara;
    • Gaignard, Pauline;
    • Schlieben, Lea Dewi;
    • Hirano, Michio;
    • Ronchi, Dario;
    • Gonzales, Emmanuel;
    • Shimura, Masaru;
    • Murayama, Kei;
    • Okazaki, Yasushi;
    • Barić, Ivo;
    • Ramadza, Danijela Petkovic;
    • Karall, Daniela;
    • Mayr, Johannes;
    • Martinelli, Diego;
    • Morgia, Chiara La;
    • Primiano, Guido;
    • Santer, René;
    • Servidei, Serenella;
    • Bris, Céline
    Publication type:
    Article
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    Branching Enzyme Deficiency.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 1, p. 41, doi. 10.1001/jamaneurol.2013.4888
    By:
    • Paradas, Carmen;
    • Akman, Hasan O.;
    • Ionete, Carolina;
    • Lau, Heather;
    • Riskind, Peter N.;
    • Jones, David E.;
    • Smith, Thomas W.;
    • Hirano, Michio;
    • DiMauro, Salvatore
    Publication type:
    Article
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    Human Coenzyme Q<sub>10</sub> Deficiency.

    Published in:
    Neurochemical Research, 2007, v. 32, n. 4/5, p. 723, doi. 10.1007/s11064-006-9190-z
    By:
    • Catarina Quinzii;
    • Salvatore DiMauro;
    • Michio Hirano
    Publication type:
    Article
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    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 376, doi. 10.1002/jimd.12300
    By:
    • Hirano, Michio;
    • Carelli, Valerio;
    • De Giorgio, Roberto;
    • Pironi, Loris;
    • Accarino, Anna;
    • Cenacchi, Giovanna;
    • D'Alessandro, Roberto;
    • Filosto, Massimiliano;
    • Martí, Ramon;
    • Nonino, Francesco;
    • Pinna, Antonio Daniele;
    • Baldin, Elisa;
    • Bax, Bridget Elizabeth;
    • Bolletta, Alessio;
    • Bolletta, Riccardo;
    • Boschetti, Elisa;
    • Cescon, Matteo;
    • D'Angelo, Roberto;
    • Dotti, Maria Teresa;
    • Giordano, Carla
    Publication type:
    Article
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    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 6, p. 1089, doi. 10.1007/s00401-020-02150-w
    By:
    • Kushnir, Alexander;
    • Todd, Joshua J.;
    • Witherspoon, Jessica W.;
    • Yuan, Qi;
    • Reiken, Steven;
    • Lin, Harvey;
    • Munce, Ross H.;
    • Wajsberg, Benjamin;
    • Melville, Zephan;
    • Clarke, Oliver B.;
    • Wedderburn-Pugh, Kaylee;
    • Wronska, Anetta;
    • Razaqyar, Muslima S.;
    • Chrismer, Irene C.;
    • Shelton, Monique O.;
    • Mankodi, Ami;
    • Grunseich, Christopher;
    • Tarnopolsky, Mark A.;
    • Tanji, Kurenai;
    • Hirano, Michio
    Publication type:
    Article
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    POLG mutations and Alpers syndrome.

    Published in:
    Annals of Neurology, 2005, v. 57, n. 6, p. 921
    By:
    • Guido Davidzon;
    • Michelangelo Mancuso;
    • Silvio Ferraris;
    • Catarina Quinzii;
    • Michio Hirano;
    • Heidi L. Peters;
    • Denise Kirby;
    • David R. Thorburn;
    • Salvatore DiMauro
    Publication type:
    Article
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    Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.

    Published in:
    Annals of Neurology, 2005, v. 57, n. 5, p. 634
    By:
    • Raquel Ros;
    • Pilar Gómez Garre;
    • Michio Hirano;
    • Yen F. Tai;
    • Israel Ampuero;
    • Lídice Vidal;
    • Ana Rojo;
    • Aurora Fontan;
    • Ana Vazquez;
    • Samira Fanjul;
    • Jaime Hernandez;
    • Susana Cantarero;
    • Janet Hoenicka;
    • Alison Jones;
    • R. Laila Ahsan;
    • Nicola Pavese;
    • Paola Piccini;
    • David J. Brooks;
    • Jordi Perez‐Tur;
    • Torbjorn Nyggard
    Publication type:
    Article
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    Mitochondrial DNA depletion and dGK gene mutations.

    Published in:
    2002
    By:
    • Salviati, Leonardo;
    • Sacconi, Sabrina;
    • Mancuso, Michelangelo;
    • Otaegui, David;
    • Camaño, Pilar;
    • Marina, Alberto;
    • Rabinowitz, Simon;
    • Shiffman, Rebecca;
    • Thompson, Karen;
    • Wilson, Claire M.;
    • Feigenbaum, Annette;
    • Naini, Ali B.;
    • Hirano, Michio;
    • Bonilla, Eduardo;
    • DiMauro, Salvatore;
    • Vu, Tuan H.;
    • Camaño, Pilar
    Publication type:
    journal article
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    Mitochondrial DNA and RNA processing in MELAS.

    Published in:
    Annals of Neurology, 1996, v. 40, n. 2, p. 172, doi. 10.1002/ana.410400208
    By:
    • Kaufmann, Petra;
    • Shanske, Sara;
    • Hirano, Michio;
    • DiMauro, Salvatore;
    • King, Michael P.;
    • Koga, Yasutoshi;
    • Schon, Eric A.
    Publication type:
    Article
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    Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants.

    Published in:
    Nature, 2013, v. 493, n. 7434, p. 632, doi. 10.1038/nature11800
    By:
    • Paull, Daniel;
    • Emmanuele, Valentina;
    • Weiss, Keren A.;
    • Treff, Nathan;
    • Stewart, Latoya;
    • Hua, Haiqing;
    • Zimmer, Matthew;
    • Kahler, David J.;
    • Goland, Robin S.;
    • Noggle, Scott A.;
    • Prosser, Robert;
    • Hirano, Michio;
    • Sauer, Mark V.;
    • Egli, Dieter
    Publication type:
    Article
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    Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
    By:
    • Papadopoulou, Lefkothea C.;
    • Sue, Carolyn M.;
    • Davidson, Mercy M.;
    • Tanji, Kurenai;
    • Nishino, Ichizo;
    • Sadlock, James E.;
    • Krishna, Sindu;
    • Walker, Winsome;
    • Selby, Jeanette;
    • Glerum, D. Moira;
    • Coster, Rudy Van;
    • Lyon, Gilles;
    • Scalais, Emmanuel;
    • Lebel, Roger;
    • Kaplan, Paige;
    • Shanske, Sara;
    • De Vivo, Darryl C.;
    • Bonilla, Eduardo;
    • Hirano, Michio
    Publication type:
    Article
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    A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.

    Published in:
    Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01852-y
    By:
    • Sturm, Gabriel;
    • Monzel, Anna S.;
    • Karan, Kalpita R.;
    • Michelson, Jeremy;
    • Ware, Sarah A.;
    • Cardenas, Andres;
    • Lin, Jue;
    • Bris, Céline;
    • Santhanam, Balaji;
    • Murphy, Michael P.;
    • Levine, Morgan E.;
    • Horvath, Steve;
    • Belsky, Daniel W.;
    • Wang, Shuang;
    • Procaccio, Vincent;
    • Kaufman, Brett A.;
    • Hirano, Michio;
    • Picard, Martin
    Publication type:
    Article
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    A novel POLG gene mutation in a patient with SANDO.

    Published in:
    Journal of Experimental & Integrative Medicine, 2012, v. 2, n. 2, p. 181, doi. 10.5455/jeim.200312.cr.001
    By:
    • Kurt, Bulent;
    • Naini, Ali B.;
    • Copeland, William C.;
    • Jiesheng Lu;
    • DiMauro, Salvatore;
    • Hirano, Michio
    Publication type:
    Article
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