Works by Hirano, Michio

Results: 122

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Published in:

2021

By:

Sharma, Rohit;
Reinstadler, Bryn;
Engelstad, Kristin;
Skinner, Owen S.;
Stackowitz, Erin;
Haller, Ronald G.;
Clish, Clary B.;
Pierce, Kerry;
Walker, Melissa A.;
Fryer, Robert;
Oglesbee, Devin;
Xiangling Mao;
Shungu, Dikoma C.;
Khatri, Ashok;
Michio Hirano;
De Vivo, Darryl C.;
Mootha, Vamsi K.;
Mao, Xiangling;
Hirano, Michio

Publication type:

journal article

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 10, p. 3458, doi. 10.3390/jcm12103458

By:

Rodriguez-Torres, Rafael S.;
Uher, David;
Gay, Emma L.;
Coratti, Giorgia;
Dunaway Young, Sally;
Rohwer, Annemarie;
Muni Lofra, Robert;
De Vivo, Darryl C.;
Hirano, Michio;
Glynn, Nancy W.;
Montes, Jacqueline

Publication type:

Article

Multivisceral transplantation for the treatment of mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Clinical Transplantation, 2024, v. 38, n. 1, p. 1, doi. 10.1111/ctr.15230

By:

Rust, Dylan;
Martinez, Mercedes;
Lagana, Stephen;
Hirano, Michio;
Kato, Tomoaki;
Weiner, Joshua

Publication type:

Article

Topical Review: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): Current Concepts.

Published in:

Journal of Child Neurology, 1994, v. 9, n. 1, p. 4, doi. 10.1177/088307389400900102

By:

Hirano, Michio;
Pavlakis, Steven G.

Publication type:

Article

Does Linezolid Cause Lactic Acidosis by Inhibiting Mitochondrial Protein Synthesis?

Published in:

Clinical Infectious Diseases, 2005, v. 40, n. 12, p. e113

By:

Palenzuela, Lluis;
Hahn, Noah M.;
Nelson Jr., Robert P.;
Arno, Janet N.;
Schobert, Carol;
Bethel, Robert;
Ostrowski, Lisa A.;
Sharma, Manjuli R.;
Dafta, Partha P.;
Agrawal, Rajendra K.;
Schwartz, Jennifer E.;
Hirano, Michio

Publication type:

Article

Nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.085457

By:

Zhou, Weichen;
Karan, Kalpita R;
Gu, Wenjin;
Klein, Hans‐Ulrich;
Sturm, Gabriel;
De Jager, Philip L.;
Bennett, David A.;
Hirano, Michio;
Picard, Martin;
Mills, Ryan E

Publication type:

Article

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

Disentangling (Epi)Genetic and Environmental Contributions to the Mitochondrial 3243A>GMutation Phenotype.

Published in:

JAMA Neurology, 2016, v. 73, n. 8, p. 923, doi. 10.1001/jamaneurol.2016.1676

By:

Picard, Martin;
Hirano, Michio

Publication type:

Article

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

Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation.

Published in:

JAMA Neurology, 2013, v. 70, n. 11, p. 1425, doi. 10.1001/jamaneurol.2013.3185

By:

Paradas, Carmen;
Camaño, Pilar;
Otaegui, David;
Oz, Oguzhan;
Emmanuele, Valentina;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112

By:

Douglas, Ganka V;
Wiszniewska, Joanna;
Lipson, Mark H;
Witt, David R;
McDowell, Taryn;
Sifry-Platt, Mara;
Hirano, Michio;
Craigen, William J;
Wong, Lee-Jun C

Publication type:

Article

Primary coenzyme Q<FORMULA>_{10}</FORMULA> deficiency and the brain.

Published in:

Biofactors, 2003, v. 18, n. 1-4, p. 145, doi. 10.1002/biof.5520180217

By:

Naini, Ali;
Lewis, Vernice-Jackson;
Hirano, Michio;
DiMauro, Salvatore

Publication type:

Article

Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders.

Published in:

Clinical Chemistry & Laboratory Medicine, 2003, v. 41, n. 7, p. 845, doi. 10.1515/CCLM.2003.128

By:

Martí, Ramon;
Nishigaki, Yutaka;
Vilá, Maya R.;
Hirano, Michio

Publication type:

Article

Correction to: The evolution of the mitochondrial disease diagnostic odyssey.

Published in:

2023

By:

Thompson, John L. P.;
Karaa, Amel;
Pham, Hung;
Yeske, Philip;
Krischer, Jeffrey;
Xiao, Yi;
Long, Yuelin;
Kramer, Amanda;
Dimmock, David;
Holbert, Amy;
Gorski, Cliff;
Engelstad, Kristin M.;
Buchsbaum, Richard;
Rosales, Xiomara Q.;
Hirano, Michio

Publication type:

Correction Notice

The evolution of the mitochondrial disease diagnostic odyssey.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02754-x

By:

Thompson, John L. P.;
Karaa, Amel;
Pham, Hung;
Yeske, Philip;
Krischer, Jeffrey;
Xiao, Yi;
Long, Yuelin;
Kramer, Amanda;
Dimmock, David;
Holbert, Amy;
Gorski, Cliff;
Engelstad, Kristin M.;
Buchsbaum, Richard;
Rosales, Xiomara Q.;
Hirano, Michio

Publication type:

Article

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

Mutations in coenzyme Q10 biosynthetic genes.

Published in:

2007

By:

DiMauro, Salvatore;
Quinzii, Catarina M.;
Hirano, Michio

Publication type:

journal article

Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.

Published in:

PLoS Biology, 2024, v. 22, n. 8, p. 1, doi. 10.1371/journal.pbio.3002723

By:

Zhou, Weichen;
Karan, Kalpita R.;
Gu, Wenjin;
Klein, Hans-Ulrich;
Sturm, Gabriel;
De Jager, Philip L.;
Bennett, David A.;
Hirano, Michio;
Picard, Martin;
Mills, Ryan E.

Publication type:

Article

Advances in purine and pyrimidine metabolism in health and diseases.

Published in:

2016

By:

Hirano, Michio;
Peters, Godefridus J.

Publication type:

Proceeding

Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutations at Nucleotides 11778 and 3460 in Multiple Sclerosis.

Published in:

Ophthalmologica, 1999, v. 213, n. 3, p. 171, doi. 10.1159/000027414

By:

Mojon, Daniel S.;
Herbert, Joseph;
Sadiq, Saud A.;
Miller, James R.;
Madonna, Michelle;
Hirano, Michio

Publication type:

Article

Pituitary Adenoma Revealed by Paracentral Junctional Scotoma of Traquair.

Published in:

Ophthalmologica, 1997, v. 211, n. 2, p. 104, doi. 10.1159/000310771

By:

Mojon, Daniel S.;
Odel, Jeffrey G.;
Rios, Rodolfo J.;
Hirano, Michio

Publication type:

Article

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

Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes.

Published in:

PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145750

By:

Joseph, Leroy C.;
Barca, Emanuele;
Subramanyam, Prakash;
Komrowski, Michael;
Pajvani, Utpal;
Colecraft, Henry M.;
Hirano, Michio;
Morrow, John P.

Publication type:

Article

Diagnosis of Primary Mitochondrial Diseases.

Published in:

Muscle & Nerve, 2025, v. 71, n. 6, p. 949, doi. 10.1002/mus.28387

By:

Bhai, Salman;
Hirano, Michio

Publication type:

Article

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.

Published in:

Journal of Neurology, 2020, v. 267, n. 3, p. 823, doi. 10.1007/s00415-019-09619-z

By:

Berardo, Andres;
Emmanuele, Valentina;
Vargas, Wendy;
Tanji, Kurenai;
Naini, Ali;
Hirano, Michio

Publication type:

Article

ANO10 mutations cause ataxia and coenzyme Q deficiency.

Published in:

Journal of Neurology, 2014, v. 261, n. 11, p. 2192, doi. 10.1007/s00415-014-7476-7

By:

Balreira, Andrea;
Boczonadi, Veronika;
Barca, Emanuele;
Pyle, Angela;
Bansagi, Boglarka;
Appleton, Marie;
Graham, Claire;
Hargreaves, Iain;
Rasic, Vedrana;
Lochmüller, Hanns;
Griffin, Helen;
Taylor, Robert;
Naini, Ali;
Chinnery, Patrick;
Hirano, Michio;
Quinzii, Catarina;
Horvath, Rita

Publication type:

Article

Achalasia as the harbinger of a novel mitochondrial disorder in childhood.

Published in:

2005

By:

Chelimsky, Gisela;
Shanske, Sara;
Hirano, Michio;
Zinn, Arthur B;
Cohen, Mark;
McNeeley, Kevin;
Chelimsky, Thomas C

Publication type:

journal article

A United States-based patient-reported adult polyglucosan body disease registry: initial results.

Published in:

Therapeutic Advances in Rare Disease, 2024, v. 5, p. 1, doi. 10.1177/26330040241227452

By:

Sparks, Jacy;
Michelassi, Francesco;
Thompson, John L. P.;
Buchsbaum, Richard;
Pires, Natacha;
DeRosa, Janet T.;
Engelstad, Kristin;
DiMauro, Salvatore;
Akman, Hasan Orhan;
Hirano, Michio

Publication type:

Article

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173

By:

Thomas-Wilson, Amanda;
Dharmadhikari, Avinash V.;
Heymann, Jonas J.;
Jobanputra, Vaidehi;
DiMauro, Salvatore;
Hirano, Michio;
Naini, Ali B.;
Ganapathi, Mythily

Publication type:

Article

Human mitochondrial DNA: roles of inherited and somatic mutations.

Published in:

Nature Reviews Genetics, 2012, v. 13, n. 12, p. 878, doi. 10.1038/nrg3275

By:

Schon, Eric A.;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 581, doi. 10.3109/21678421.2014.907319

By:

Kariya, Shingo;
Sampson, Jacinda B.;
Northrop, Lesley E.;
Luccarelli, Christopher M.;
Naini, Ali B.;
Re, Diane B.;
Hirano, Michio;
Mitsumoto, Hiroshi

Publication type:

Article

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2433, doi. 10.1093/hmg/ddn143

By:

Akman, Hasan O.;
Dorado, Beatriz;
López, Luis C.;
García-Cazorla, Ángeles;
Vilà, Maya R.;
Tanabe, Lauren M.;
Dauer, William T.;
Bonilla, Eduardo;
Tanji, Kurenai;
Hirano, Michio

Publication type:

Article

A functionally dominant mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073

By:

Sacconi, Sabrina;
Salviati, Leonardo;
Nishigaki, Yutaka;
Walker, Winsome F.;
Hernandez-Rosa, Evelyn;
Trevisson, Eva;
Delplace, Severine;
Desnuelle, Claude;
Shanske, Sara;
Hirano, Michio;
Schon, Eric A.;
Bonilla, Eduardo;
De Vivo, Darryl C.;
DiMauro, Salvatore;
Davidson, Mercy M.

Publication type:

Article

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 9, p. 1091

By:

López-Martín, José M.;
Salviati, Leonardo;
Trevisson, Eva;
Montini, Giovanni;
DiMauro, Salvatore;
Quinzii, Catarina;
Hirano, Michio;
Rodriguez-Hernandez, Angeles;
Cordero, Mario D.;
Sánchez-Alcázar, José A.;
Santos-Ocaña, Carlos;
Navas, Plácido

Publication type:

Article

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 91

By:

Nishigaki, Yutaka;
Martí, Ramon;
Hirano, Michio

Publication type:

Article

Primary and secondary CoQ10 deficiencies in humans.

Published in:

Biofactors, 2011, v. 37, n. 5, p. 361, doi. 10.1002/biof.155

By:

Quinzii, Catarina M.;
Hirano, Michio

Publication type:

Article

Clinical Presentations of Coenzyme Q10 Deficiency Syndrome.

Published in:

Molecular Syndromology, 2014, v. 5, n. 3/4, p. 141, doi. 10.1159/000360490

By:

Quinzii, Catarina M.;
Emmanuele, Valentina;
Hirano, Michio

Publication type:

Article

Pathomechanisms in Coenzyme Q10-Deficient Human Fibroblasts.

Published in:

Molecular Syndromology, 2014, v. 5, n. 3/4, p. 163, doi. 10.1159/000360494

By:

López, Luis C.;
Luna-Sánchez, Marta;
García-Corzo, Laura;
Quinzii, Catarina M.;
Hirano, Michio

Publication type:

Article

Correction: Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes.

Published in:

2017

By:

Joseph, Leroy C.;
Barca, Emanuele;
Subramanyam, Prakash;
Komrowski, Michael;
Pajvani, Utpal;
Colecraft, Henry M.;
Hirano, Michio;
Morrow, John P.

Publication type:

Correction Notice

SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.

Published in:

Autophagy, 2021, v. 17, n. 8, p. 1889, doi. 10.1080/15548627.2020.1796292

By:

Richard, Patricia;
Feng, Shuang;
Tsai, Yueh-Lin;
Li, Wencheng;
Rinchetti, Paola;
Muhith, Ubayed;
Irizarry-Cole, Juan;
Stolz, Katharine;
Sanz, Lionel A.;
Hartono, Stella;
Hoque, Mainul;
Tadesse, Saba;
Seitz, Hervé;
Lotti, Francesco;
Hirano, Michio;
Chédin, Frédéric;
Tian, Bin;
Manley, James L.

Publication type:

Article

Human Coenzyme Q10 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

Early‐onset familial parkinsonism due to POLG mutations.

Published in:

Annals of Neurology, 2006, v. 59, n. 5, p. 859, doi. 10.1002/ana.20831

By:

Guido Davidzon;
Paul Greene;
Michelangelo Mancuso;
Kevin J. Klos;
J. Eric Ahlskog;
Michio Hirano;
Salvatore DiMauro

Publication type:

Article

Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 649

By:

Ramon Martí;
Jan J. G. M. Verschuuren;
Alan Buchman;
Ikuo Hirano;
Saba Tadesse;
André B. P. van Kuilenburg;
Albert H. van Gennip;
Ben J. H. M. Poorthuis;
Michio Hirano

Publication type:

Article

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

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

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Published in:

Annals of Neurology, 2003, v. 54, n. 4, p. 524

By:

Massimiliano Filosto;
Michelangelo Mancuso;
Cristofol Vives-Bauza;
Maya R. Vilà;
Sara Shanske;
Michio Hirano;
Antoni L. Andreu;
Salvatore DiMauro

Publication type:

Article

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

Does increased superoxide dismutase activity really cause muscular dystrophy?

Published in:

1999

By:

Almer, Gabriele;
Rosoklija, Gorazd;
Hirano, Michio;
Hays, Arthur P.;
Przedborski, Serge;
Almer, G;
Rosoklija, G;
Hirano, M;
Hays, A P;
Przedborski, S

Publication type:

commentary

Association of myopathy with large-scale mitochondrial dna duplications and deletions: Which is pathogenic?

Published in:

Annals of Neurology, 1997, v. 42, n. 2, p. 180, doi. 10.1002/ana.410420208

By:

Manfredi, Giovanni;
Vu, Tuan;
Bonilla, Eduardo;
Schon, Eric A.;
DiMauro, Salvatore;
Arnaudo, Enrica;
Zhang, Lee;
Rowland, Lewis P.;
Hirano, Michio

Publication type:

Article

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