Works matching AU 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

Visual memory failure presages conversion to MELAS phenotype.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 841, doi. 10.1002/acn3.51564

By:

Leaffer, Emily B.;
De Vivo, Darryl C.;
Engelstad, Kristin;
Fryer, Robert H.;
Gu, Yian;
Shungu, Dikoma C.;
Hirano, Michio;
DiMauro, Salvatore;
Hinton, Veronica J.

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

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

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203198

By:

Hoff, Kirsten E.;
DeBalsi, Karen L.;
Sanchez-Quintero, Maria J.;
Longley, Matthew J.;
Hirano, Michio;
Naini, Ali B.;
Copeland, William C.

Publication type:

Article

Defects of Intergenomic Communication: Where Do We Stand?

Published in:

Brain Pathology, 2000, v. 10, n. 3, p. 451, doi. 10.1111/j.1750-3639.2000.tb00277.x

By:

Hirano, Michio;
Vu, Tuan H.

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

Advances in purine and pyrimidine metabolism in health and diseases.

Published in:

2016

By:

Hirano, Michio;
Peters, Godefridus J.

Publication type:

Proceeding

Two cases of MT-ND5 -related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.

Published in:

Multiple Sclerosis Journal, 2023, v. 29, n. 7, p. 892, doi. 10.1177/13524585231172947

By:

Wilkins, Sophie R;
Yu, Amy W;
Steigerwald, Connolly;
Tanji, Kurenai;
Iglesias, Alejandro D;
Hirano, Michio;
Kister, Ilya;
Riley, Claire S;
Abreu, Nicolas J

Publication type:

Article

Effects of Inhibiting CoQ10 Biosynthesis with 4-nitrobenzoate in Human Fibroblasts.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030606

By:

Quinzii, Catarina M.;
Tadesse, Saba;
Naini, Ali;
Hirano, Michio

Publication type:

Article

Thymidine Kinase 2 Deficiency-Induced Mitochondrial DNA Depletion Causes Abnormal Development of Adipose Tissues and Adipokine Levels in Mice.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029691

By:

Villarroya, Joan;
Dorado, Beatriz;
Vilà, Maya R.;
Garcia-Arumí, Elena;
Domingo, Pere;
Giralt, Marta;
Hirano, Michio;
Villarroya, Francesc

Publication type:

Article

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects.

Published in:

PLoS ONE, 2010, v. 5, n. 7, p. 1

By:

López, Luis C.;
Quinzii, Catarina M.;
Area, Estela;
Naini, Ali;
Rahman, Shamima;
Schuelke, Markus;
Salviati, Leonardo;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Analysis of mtDNA deletions in muscle by in situ hybridization.

Published in:

2000

By:

Vu, Tuan H.;
Tanji, Kurenai;
Pallotti, Francesco;
Golzi, Valeria;
Hirano, Michio;
DiMauro, Salvatore;
Bonilla, Eduardo;
Vu, T H;
Tanji, K;
Pallotti, F;
Golzi, V;
Hirano, M;
DiMauro, S;
Bonilla, E

Publication type:

journal article

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

Published in:

FASEB Journal, 2013, v. 27, n. 2, p. 612, doi. 10.1096/fj.12-209361

By:

Quinzii, Catarina M.;
Garone, Caterina;
Emmanuele, Valentina;
Tadesse, Saba;
Krishna, Sindu;
Dorado, Beatriz;
Hirano, Michio

Publication type:

Article

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

Published in:

FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728

By:

Quinzii, Catarina M.;
López, Luis C.;
Gilkerson, Robert W.;
Dora, Beatriz;
Coku, Jorida;
Naini, Ali B.;
Lagier-Tourenne, Clotilde;
Schuelke, Markus;
Salviati, Leonardo;
Carrozzo, Rosalba;
Santorelli, Filippo;
Rahman, Shamima;
Tazir, Meriem;
Koenig, Michel;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.

Published in:

FASEB Journal, 2008, v. 22, n. 6, p. 1874, doi. 10.1096/fj.07-100149

By:

Quinzii, Catarina M.;
López, Luis C.;
Von-Moltke, Jakob;
Naini, Ali;
Krishna, Sindu;
Schuelke, Markus;
Salviati, Leonardo;
Navas, Plácido;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.

Published in:

2016

By:

Engelstad, Kristin;
Sklerov, Miriam;
Kriger, Joshua;
Sanford, Alexandra;
Grier, Johnston;
Ash, Daniel;
Egli, Dieter;
DiMauro, Salvatore;
Thompson, John L.P.;
Sauer, Mark V.;
Hirano, Michio

Publication type:

journal article

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

Benign cysts in the central nervous system: Neuropathological observations of the cyst walls.

Published in:

Neuropathology, 2004, v. 24, n. 1, p. 1, doi. 10.1111/j.1440-1789.2003.00526.x

By:

Hirano, Asao;
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

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 209, doi. 10.1093/hmg/ddy299

By:

Kubota, Akatsuki;
Juanola-Falgarona, Martí;
Emmanuele, Valentina;
Sanchez-Quintero, Maria Jose;
Kariya, Shingo;
Sera, Fusako;
Homma, Shunichi;
Tanji, Kurenai;
Quinzii, Catarina M;
Hirano, Michio

Publication type:

Article

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4588, doi. 10.1093/hmg/ddx341

By:

Siegmund, Stephanie E.;
Hua Yang;
Sharma, Rohit;
Javors, Martin;
Skinner, Owen;
Mootha, Vamsi;
Hirano, Michio;
Schon, Eric A.

Publication type:

Article

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 19, p. 4256, doi. 10.1093/hmg/ddw257

By:

Desbats, Maria Andrea;
Morbidoni, Valeria;
Silic-Benussi, Micol;
Doimo, Mara;
Ciminale, Vincenzo;
Cassina, Matteo;
Sacconi, Sabrina;
Hirano, Michio;
Basso, Giuseppe;
Pierrel, Fabien;
Navas, Placido;
Salviati, Leonardo;
Trevisson, Eva

Publication type:

Article

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 3, p. 714, doi. 10.1093/hmg/ddu490

By:

Emmanuele, Valentina;
Kubota, Akatsuki;
Garcia-Diaz, Beatriz;
Garone, Caterina;
Akman, Hasan O.;
Sánchez-Gutiérrez, Daniel;
Escudero, Luis M.;
Kariya, Shingo;
Homma, Shunichi;
Tanji, Kurenai;
Quinzii, Catarina M.;
Hirano, Michio

Publication type:

Article

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459

By:

Cámara, Yolanda;
González-Vioque, Emiliano;
Scarpelli, Mauro;
Torres-Torronteras, Javier;
Caballero, Andrea;
Hirano, Michio;
Martí, Ramon

Publication type:

Article

Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.

Published in:

International Journal of Neuroscience, 2016, v. 126, n. 7, p. 600, doi. 10.3109/00207454.2015.1048805

By:

Peddareddygari, Leema Reddy;
Hanna, Philip A.;
Igo, Robert P.;
Luo, Yuqun A.;
Won, Sungho;
Hirano, Michio;
Grewal, Raji P.

Publication type:

Article

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

A First Step in Viral Gene Therapy for Muscular Dystrophy.

Published in:

Current Neurology & Neuroscience Reports, 2010, v. 10, n. 2, p. 71, doi. 10.1007/s11910-010-0090-x

By:

Hirano, Michio

Publication type:

Article

A Diagnostic Algorithm for Metabolic Myopathies.

Published in:

Current Neurology & Neuroscience Reports, 2010, v. 10, n. 2, p. 118, doi. 10.1007/s11910-010-0096-4

By:

Berardo, Andres;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Two strikes against mycophenolate mofetil therapy for myasthenia gravis.

Published in:

2009

By:

Hirano, Michio

Publication type:

Report

Recombinant enzyme replacement therapy for infantile-onset Pompe disease.

Published in:

2008

By:

Hirano, Michio

Publication type:

Report

Does ACE inhibitor therapy delay onset and progression of cardiac dysfunction in duchenne muscular dystrophy?

Published in:

Current Neurology & Neuroscience Reports, 2006, v. 6, n. 1, p. 35, doi. 10.1007/s11910-996-0007-x

By:

Hirano, Michio

Publication type:

Article

A sugary cocktail for McArdle disease.

Published in:

Current Neurology & Neuroscience Reports, 2005, v. 5, n. 1, p. 39, doi. 10.1007/s11910-005-0021-4

By:

Hirano, Michio

Publication type:

Article

Modafinil decreases hypersomnolence and improves mood in patients with myotonic dystrophy.

Published in:

Current Neurology & Neuroscience Reports, 2004, v. 4, n. 1, p. 49, doi. 10.1007/s11910-004-0011-y

By:

Hirano, Michio

Publication type:

Article

A Novel Potential Therapy for Spinal Muscular Atrophy.

Published in:

Current Neurology & Neuroscience Reports, 2003, v. 3, n. 1, p. 56, doi. 10.1007/s11910-003-0038-5

By:

Hirano, Michio

Publication type:

Article

New potential therapies for myasthenia gravis.

Published in:

Current Neurology & Neuroscience Reports, 2003, v. 3, n. 1, p. 55, doi. 10.1007/s11910-003-0037-6

By:

Hirano, Michio

Publication type:

Article

Aminoglycoside treatment for muscular dystrophy is scientifically rational, but is it clinically effective?

Published in:

Current Neurology & Neuroscience Reports, 2002, v. 2, n. 1, p. 53, doi. 10.1007/s11910-002-0053-y

By:

Hirano, Michio

Publication type:

Article

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

Published in:

2021

By:

Domínguez-González, Cristina;
Madruga-Garrido, Marcos;
Hirano, Michio;
Martí, Itxaso;
Martín, Miguel A.;
Munell, Francina;
Nascimento, Andrés;
Olivé, Montse;
Quan, Joanne;
Sardina, M. Dolores;
Martí, Ramon;
Paradas, Carmen

Publication type:

journal article

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Published in:

2019

By:

Cruz, Pedro M. Rodríguez;
Cossins, Judith;
Estephan, Eduardo de Paula;
Munell, Francina;
Selby, Kathryn;
Hirano, Michio;
Maroofin, Reza;
Mehrjardi, Mohammad Yahya Vahidi;
Chow, Gabriel;
Carr, Aisling;
Manzur, Adnan;
Robb, Stephanie;
Munot, Pinki;
Liu, Wei Wei;
Banka, Siddharth;
Fraser, Harry;
Goede, Christian De;
Zanoteli, Edmar;
Reed, Umbertina Conti;
Sage, Abigail

Publication type:

journal article

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1337, doi. 10.1093/brain/awu068

By:

Garcia-Diaz, Beatriz;
Garone, Caterina;
Barca, Emanuele;
Mojahed, Hamed;
Gutierrez, Purification;
Pizzorno, Giuseppe;
Tanji, Kurenai;
Arias-Mendoza, Fernando;
Quinzii, Caterina M.;
Hirano, Michio

Publication type:

Article

Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 308, doi. 10.1093/brain/awu005

By:

Hirano, Michio

Publication type:

Article

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074

By:

Melià, Maria J.;
Kubota, Akatsuki;
Ortolano, Saida;
Vílchez, Juan J.;
Gámez, Josep;
Tanji, Kurenai;
Bonilla, Eduardo;
Palenzuela, Lluís;
Fernández-Cadenas, Israel;
Přistoupilová, Anna;
García-Arumí, Elena;
Andreu, Antoni L.;
Navarro, Carmen;
Hirano, Michio;
Martí, Ramon

Publication type:

Article

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3614, doi. 10.1093/brain/aws298

By:

Neeve, Vivienne C. M.;
Samuels, David C.;
Bindoff, Laurence A.;
van den Bosch, Bianca;
Van Goethem, Gert;
Smeets, Hubert;
Lombès, Anne;
Jardel, Claude;
Hirano, Michio;
DiMauro, Salvatore;
De Vries, Maaike;
Smeitink, Jan;
Smits, Bart W.;
de Coo, Ireneus F. M.;
Saft, Carsten;
Klopstock, Thomas;
Keiling, Bianca-Cortina;
Czermin, Birgit;
Abicht, Angela;
Lochmüller, Hanns

Publication type:

Article

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3326, doi. 10.1093/brain/awr245

By:

Garone, Caterina;
Tadesse, Saba;
Hirano, Michio

Publication type:

Article

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2037, doi. 10.1093/brain/awm054

By:

Klaus Gempel;
Haluk Topaloglu;
Beril Talim;
Peter Schneiderat;
Benedikt G. H. Schoser;
Volkmar H. Hans;
Beatrix Pálmafy;
Gulsev Kale;
Aysegul Tokatli;
Catarina Quinzii;
Michio Hirano;
Ali Naini;
Salvatore DiMauro;
Holger Prokisch;
Hanns Lochmüller;
Rita Horvath

Publication type:

Article

A polymorphic polymerase.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1637, doi. 10.1093/brain/awl169

By:

Salvatore DiMauro;
Guido Davidzon;
Michio Hirano

Publication type:

Article

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.

Published in:

Annals of Neurology, 2021, v. 90, n. 4, p. 640, doi. 10.1002/ana.26185

By:

Lopez‐Gomez, Carlos;
Sanchez‐Quintero, Maria J.;
Lee, Eung Jeon;
Kleiner, Gulio;
Tadesse, Saba;
Xie, Jun;
Akman, Hasan Orhan;
Gao, Guangping;
Hirano, Michio

Publication type:

Article

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.

Published in:

2017

By:

Lopez‐Gomez, Carlos;
Levy, Rebecca J.;
Sanchez‐Quintero, Maria J.;
Juanola‐Falgarona, Martí;
Barca, Emanuele;
Garcia‐Diaz, Beatriz;
Tadesse, Saba;
Garone, Caterina;
Hirano, Michio

Publication type:

journal article