MichioHiranoMD

PubMed

• Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
  Rohit Sharma, Bryn Reinstadler, Kristin Engelstad, Owen S. Skinner, Erin Stackowitz, Ronald G. Haller, Clary B. Clish, Kerry A. Pierce, Melissa A. Walker, Robert Fryer...> ;Journal of Clinical Investigation. 2021 Jan 19
• Regulatory environment for novel therapeutic development in mitochondrial diseases.
  Michio Hirano, Andres Berardo, Emanuele Barca, Valentina Emmanuele, Catarina M. Quinzii, Camilla V Simpson, Kristin Engelstad, Xiomara Q Rosales, John L.P. Thompson> ;Journal of Inherited Metabolic Disease. 2021 Jan 4
• Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.
  Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, ...> ;EBioMedicine. 2020 Nov 21
• Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
  Denisa Hathazi, Helen Griffin, Matthew J. Jennings, Michele Giunta, Christopher A. Powell, Sarah F Pearce, Benjamin Munro, Wei Wei, Veronika Boczonadi, Joanna Poulton,...> ;The EMBO Journal. 2020 Oct 31
• Editing the Mitochondrial Genome.
  Maria Falkenberg, Michio Hirano> ;The New England Journal of Medicine. 2020 Oct 7
• 1 citations
  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
  Michio Hirano, Valerio Carelli, Roberto De Giorgio, Loris Pironi, Anna Accarino, Giovanna Cenacchi, Roberto D'Alessandro, Massimiliano Filosto, Ramon Martí, Francesco ...> ;Journal of Inherited Metabolic Disease. 2020 Sep 8
• Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.
  Emily Li, Valentina Emmanuele, Francine M. Testa, Cristiane de Araújo Martins Moreno, Michio Hirano, Robert L. Lesser> ;Journal of Neuro-ophthalmology. 2020 Sep 1
• Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
  Cristina Domínguez-González, Carmen Badosa, Marcos Madruga-Garrido, Itxaso Martí, Carmen Paradas, Carlos Ortez, Jordi Díaz-Manera, Andres Berardo, Jorge Alonso-Pérez, ...> ;Scientific Reports. 2020 Jun 22
• GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
  A. Reghan Foley, Yaqun Zou, James E. Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong, Volker Straub, Thomas Voit, Norma B. Romero, Sandra Donkervoort, Ying Hu, Tho...> ;Annals of Neurology. 2020 May 13
• Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
  Kimberly Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, William E. Berquist, Natalia Gomez-Ospina, Carlos O. Esquivel, Waldo Concepcion, Jacinda B. Sampson, David ...> ;Molecular Genetics and Metabolism. 2020 May 1
• The North American mitochondrial disease registry.
  Xiomara Q Rosales, John L.P. Thompson, Richard H. Haas, Johan L.K. Van Hove, Amel Karaa, Danuta Krotoski, Kristin Engelstad, Richard Buchsbaum, Salvatore DiMauro, Mich...> ;Journal of translational genetics and genomics. 2020 Apr 28
• Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
  Alexander Kushnir, Joshua J. Todd, Jessica W. Witherspoon, Qi Yuan, Steven Reiken, Harvey Lin, Ross H Munce, Benjamin Wajsberg, Zephan Melville, Oliver B. Clarke, Kayl...> ;Acta Neuropathologica. 2020 Mar 31
• Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
  Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Ha...> ;Neurology Genetics. 2020 Mar 2
• Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
  Berardo, A., Emmanuele, V., Vargas, W., Tanji, K., Naini, A., Hirano, M.> ;Journal of neurology. 2019 Nov 30
• Fatigue in Primary Genetic Mitochondrial Disease: No Rest for the Weary
  Sumit Parikh, Rachel Galioto, Brittany Lapin, Richard H. Haas, Michio Hirano, Mary Kay Koenig, Russell P. Saneto, Zarazuela Zolkipli-Cunningham, Amy Goldstein, Amel Karaa> ;Neuromuscular Disorders. 2019 Nov 1
• Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure
  Brian Rosenberg, Michio Hirano, Catarina M. Quinzii, Elizabeth Colantuoni, Dale M. Needham, David J. Lederer, Matthew R. Baldwin> ;Thorax. 2019 Sep 18
• Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency.
  Lopez-Gomez, C., Hewan, H., Sierra, C., Akman, H. O., Sanchez-Quintero, M. J., Juanola-Falgarona, M., Tadesse, S., Tanji, K., Konofagou, E. E., Hirano, M.> ;EBioMedicine. 2019 Aug 7
• Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
  Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard, Caterina Garone, Francisco Javier Aguirre‐Rodríguez, M. Alice Donati, Karin Kleinsteuber, Itxas...> ;Annals of Neurology. 2019 Aug 1
• The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
  Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabr...> ;Brain. 2019 Jun 1
• Late-onset thymidine kinase 2 deficiency: a review of 18 cases
  Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García G...> ;Orphanet Journal of Rare Diseases. 2019 May 6
• The alpha-1-antitrypsin promoter improves the efficacy of an AAV vector for the treatment of MNGIE.
  Cabrera-Pérez, R.,Vila-Julia, F.,Hirano, M.,Mingozzi, F.,Torres-Torronteras, J.,Marti, R.> ;Hum. Gene Ther.. 2019 Mar 23
• USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
  Emanuele Barca, Rebecca D. Ganetzky, Prasanth Potluri, Martí Juanola-Falgarona, Xiaowu Gai, Dong Li, Chaim Jalas, Yoel Hirsch, Valentina Emmanuele, Saba Tadesse, Marce...> ;Human Molecular Genetics. 2018 Oct 1
• Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography.
  Stephanie E. Siegmund, Robert A. Grassucci, Stephen D. Carter, Emanuele Barca, Zachary J. Farino, Martí Juanola-Falgarona, Peijun Zhang, Kurenai Tanji, Michio Hirano, ...> ;iScience. 2018 Aug 31
• Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
  Kirsten E. Hoff, Karen L. DeBalsi, Maria J. Sanchez-Quintero, Matthew J. Longley, Michio Hirano, Ali Naini, William C. Copeland> ;PLOS ONE. 2018 Aug 29
• A novel complex neurological phenotype due to a homozygous mutation in FDX2.
  Juliana Gurgel-Giannetti, David S. Lynch, Anderson Rodrigues Brandão de Paiva, Leandro Tavares Lucato, Guilherme L. Yamamoto, Christer Thomsen, Somsuvro Basu, Fernando...> ;Brain. 2018 Aug 1
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Journal Articles

• A Novel Complex Neurological Phenotype Due to a Homozygous Mutation in FDX2  
  Michio Hirano, MD, Brain