FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Michio Hirano

Research Profile

Chemicals & Drugs

Disorders

Physiology

Anatomy

Co-author Network

Publications

TOP 3
Maria J Melià; Carmen Navarro; Saida Ortolano; Lluís Palenzuela; Anna Pristoupilová; Kurenai Tanji; Juan J Vílchez; Antoni L Andreu; Eduardo Bonilla; Israel Fernández-Cadenas; Josep Gámez; Elena García-Arumí; Michio Hirano; Akatsuki Kubota; Ramon Martí
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Catarina M Quinzii; Saba Tadesse; Sindu Krishna; Beatriz Dorado; Valentina Emmanuele; Caterina Garone; Michio Hirano
Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
Sara Shanske; Hasan O Akman; Ramen Chmait; Michio Hirano; Jiesheng Lu; Mahesh Mansukhani; Ali Naini; Salvatore DiMauro
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Michio Hirano (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Maria J Melià; Carmen Navarro; Saida Ortolano; Lluís Palenzuela; Anna Pristoupilová; Kurenai Tanji; Juan J Vílchez; Antoni L Andreu; Eduardo Bonilla; Israel Fernández-Cadenas; Josep Gámez; Elena García-Arumí; Michio Hirano; Akatsuki Kubota; Ramon Martí
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Brain : a journal of neurology 2013;136(Pt 5):1508-17.
2013: Catarina M Quinzii; Saba Tadesse; Sindu Krishna; Beatriz Dorado; Valentina Emmanuele; Caterina Garone; Michio Hirano
Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013;27(2):612-21.
2013: Sara Shanske; Hasan O Akman; Ramen Chmait; Michio Hirano; Jiesheng Lu; Mahesh Mansukhani; Ali Naini; Salvatore DiMauro
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.
Journal of child neurology 2013;28(2):264-8.
2012: Beatriz Garcia-Diaz; Michio Hirano; Rita Horvath; Hasan O Akman; Mario H Barros; Darryl C De Vivo; Salvatore DiMauro; Nader El Gharaby; Valentina Emmanuele; Claudia C Ferreiro-Barros; Simone Sanna-Cherchi; Aly Shokr; Saba Tadesse; Catarina M Quinzii
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
American journal of human genetics 2012;91(4):729-36.
2012: Valentina Emmanuele; Andres Berardo; Erin D'Agostino; Salvatore DiMauro; Luis C López; Ali Naini; Catarina Quinzii; Martha Solomon; Saba Tadesse; Bing Wen; Luis López; Michio Hirano
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Archives of neurology 2012;69(8):978-83.
2012: Michio Hirano; Caterina Garone; Catarina M Quinzii
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.
Biochimica et biophysica acta 2012;1820(5):625-31.
2012: Leonardo Salviati; Carlos Santos-Ocaña; Geppo Sartori; Eva Trevisson; Orsetta Zuffardi; Vanessa Pertegato; Catarina M Quinzii; Maria Angeles Rodriguez Hernandez; Sabrina Sacconi; Caterina Agosto; Rafael Artuch; Alberto Casarin; Matteo Cassina; Maria Andrea Desbats; Salvatore DiMauro; Mara Doimo; Michio Hirano; Luigi Memo; Plácido Navas
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Journal of medical genetics 2012;49(3):187-91.
2012: Catarina M Quinzii; Saba Tadesse; Ali Naini; Michio Hirano
Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.
PloS one 2012;7(2):e30606.
2011: Petra Kaufmann; D Y Koenigsberger; R Kulikova; Xiangling Mao; Maryam Oskoui; Juan M Pascual; Mary Sano; Sara Shanske; Dikoma Shungu; D M Sproule; Y Wei; Vanessa Battista; Salvatore DiMauro; Kristin Engelstad; Michio Hirano; Darryl C De Vivo
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Neurology 2011;77(22):1965-71.
2011: Caterina Garone; Saba Tadesse; Michio Hirano
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
Brain : a journal of neurology 2011;134(Pt 11):3326-32.
2011: Valentina Emmanuele; David S Silvers; Evangelia Sotiriou; Kurenai Tanji; Salvatore DiMauro; Michio Hirano
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
Muscle & nerve 2011;44(3):448-51.
2011: Catarina M Quinzii; Michio Hirano
Primary and secondary CoQ(10) deficiencies in humans.
BioFactors (Oxford, England) 2011;37(5):361-5.
2011: Michio Hirano; Catarina M Quinzii; Hiroshi Mitsumoto; Arthur P Hays; J Kirk Roberts; Patricia Richard; Lewis P Rowland
Senataxin mutations and amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2011;12(3):223-7.
2011: Valentina Emmanuele; Evangelia Sotiriou; Maryam Shirazi; Kurenai Tanji; Ronald G Haller; Katja Heinicke; Peter E Bosch; Michio Hirano; Salvatore DiMauro
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.
Journal of the neurological sciences 2011;303(1-2):39-42.
2011: Beatriz Dorado; Estela Area; Hasan O Akman; Michio Hirano
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.
Human molecular genetics 2011;20(1):155-64.
2010: Catarina M Quinzii; Luis Lopez; Robert W Gilkerson; Beatriz Dorado; Jorida Coku; Ali Naini; Clotilde Lagier-Tourenne; Markus Schuelke; Leonardo Salviati; Rosalba Carrozzo; Filippo Santorelli; Shamima Rahman; Meriem Tazir; Michel Koenig; Salvatore DiMauro; Michio Hirano
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010;24(10):3733-43.
2010: Timothy Parsons; Louis H Weimer; Kristin Engelstad; Alex Linker; Vanessa Battista; Ying Wei; Michio Hirano; Salvatore DiMauro; Darryl C De Vivo; Petra Kaufmann
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
Archives of neurology 2010;67(8):976-9.
2010: Catarina M Quinzii; Michio Hirano
Coenzyme Q and mitochondrial disease.
Developmental disabilities research reviews 2010;16(2):183-8.
2010: Eric A Schon; Salvatore DiMauro; Michio Hirano; Robert W Gilkerson
Therapeutic prospects for mitochondrial disease.
Trends in molecular medicine 2010;16(6):268-76.
2010: Hasan O Akman; Guido Davidzon; Kurenai Tanji; Emma J Macdermott; Louann Larsen; Mercy M Davidson; Ronald G Haller; Lidia S Szczepaniak; Thomas J A Lehman; Michio Hirano; Salvatore DiMauro
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.
Neuromuscular disorders : NMD 2010;20(6):397-402.
2010: Evangelia Sotiriou; Paul Greene; Sindu Krishna; Michio Hirano; Salvatore DiMauro
Myopathy and parkinsonism in phosphoglycerate kinase deficiency.
Muscle & nerve 2010;41(5):707-10.
2010: Jorida Coku; Sara Shanske; Mahsa Mehrazin; Kurenai Tanji; Ali Naini; Valentina Emmanuele; Marc Patterson; Michio Hirano; Salvatore DiMauro
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
Journal of the neurological sciences 2010;290(1-2):166-8.
2010: Andres Berardo; Salvatore DiMauro; Michio Hirano
A diagnostic algorithm for metabolic myopathies.
Current neurology and neuroscience reports 2010;10(2):118-26.
2010: Andres Berardo; Jorida Coku; Bulent Kurt; Salvatore DiMauro; Michio Hirano
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).
Neuromuscular disorders : NMD 2010;20(3):204-6.
2010: Luis C López; Catarina M Quinzii; Estela Area; Ali Naini; Shamima Rahman; Markus Schuelke; Leonardo Salviati; Salvatore DiMauro; Michio Hirano
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.
PloS one 2010;5(7):e11897.
2009: Joan Villarroya; Carme de Bolós; Anna Meseguer; Michio Hirano; Maya R Vilà
Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.
Experimental cell research 2009;315(8):1429-38.
2009: Michio Hirano; Salvatore DiMauro
VMA21 deficiency: a case of myocyte indigestion.
Cell 2009;137(2):213-5.
2009: Evangelia Sotiriou; Jorida Coku; Kurenai Tanji; Hua-bin Huang; Michio Hirano; Salvatore DiMauro
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2009;19(4):297-9.
2009: Luis Lopez; Hasan O Akman; Angels García-Cazorla; Beatriz Dorado; Ramon Martí; Ichizo Nishino; Saba Tadesse; Giuseppe Pizzorno; Dikoma Shungu; Eduardo Bonilla; Kurenai Tanji; Michio Hirano
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Human molecular genetics 2009;18(4):714-22.
2009: Salvatore DiMauro; Michio Hirano
Pathogenesis and treatment of mitochondrial disorders.
Advances in experimental medicine and biology 2009;652():139-70.
2008: Claudia C Ferreiro-Barros; Célia H Tengan; Mário H Barros; Lluis Palenzuela; Chisaka Kanki; Catarina Quinzii; Johanna Lou; Nader El Gharaby; Aly Shokr; Darryl C De Vivo; Salvatore DiMauro; Michio Hirano
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.
Journal of the neurological sciences 2008;275(1-2):128-32.
2008: Alberto Casarin; Jose Carlos Jimenez-Ortega; Eva Trevisson; Vanessa Pertegato; Mara Doimo; Maria Lara Ferrero-Gomez; Sara Abbadi; Rafael Artuch; Catarina M Quinzii; Michio Hirano; Giuseppe Basso; Carlos Santos Ocaña; Plácido Navas; Leonardo Salviati
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
Biochemical and biophysical research communications 2008;372(1):35-9.
2008: Kurenai Tanji; Petra Kaufmann; Ali Naini; Jiesheng Lu; Timothy C Parsons; Dong Wang; Joshua Z Willey; Sara Shanske; Michio Hirano; Eduardo Bonilla; Alexander Khandji; Salvatore DiMauro; Lewis P Rowland
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Journal of the neurological sciences 2008;270(1-2):23-7.
2008: Sabrina Sacconi; Leonardo Salviati; Yutaka Nishigaki; Winsome F Walker; Evelyn Hernandez-Rosa; Eva Trevisson; Severine Delplace; Claude Desnuelle; Sara Shanske; Michio Hirano; Eric A Schon; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro; Mercy M Davidson
A functionally dominant mitochondrial DNA mutation.
Human molecular genetics 2008;17(12):1814-20.
2008: Catarina M Quinzii; Luis Lopez; Jakob Von-Moltke; Ali Naini; Sindu Krishna; Markus Schuelke; Leonardo Salviati; Plácido Navas; Salvatore DiMauro; Michio Hirano
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(6):1874-85.
2008: Jong Hee Chae; Jin Sook Lee; Ki Joong Kim; Yong Seung Hwang; Michio Hirano
Biochemical and genetic analysis of Leigh syndrome patients in Korea.
Brain & development 2008;30(6):387-90.
2008: Maya R Vilà; Joan Villarroya; Elena García-Arumí; Amparo Castellote; Anna Meseguer; Michio Hirano; Manuel Roig
Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.
Journal of the neurological sciences 2008;267(1-2):137-41.
2008: Michio Hirano; Corrado Angelini; Pasquale Montagna; Arthur P Hays; Kurenai Tanji; Hiroshi Mitsumoto; Paul H Gordon; Ali Naini; Salvatore DiMauro; Lewis P Rowland
Amyotrophic lateral sclerosis with ragged-red fibers.
Archives of neurology 2008;65(3):403-6.
2008: Sara Shanske; Jorida Coku; Jiesheng Lu; Jai Ganesh; Sindu Krishna; Kurenai Tanji; Eduardo Bonilla; Ali Naini; Michio Hirano; Salvatore DiMauro
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
Archives of neurology 2008;65(3):368-72.
2008: Clotilde Lagier-Tourenne; Meriem Tazir; Luis Lopez; Catarina M Quinzii; Mirna Assoum; Nathalie Drouot; Cleverson Busso; Samira Makri; Lamia Ali-Pacha; Traki Benhassine; Mathieu Anheim; David R Lynch; Christelle Thibault; Frédéric Plewniak; Laurent Bianchetti; Christine Tranchant; Olivier Poch; Salvatore DiMauro; Jean-Louis Mandel; Mario H Barros; Michio Hirano; Michel Koenig
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
American journal of human genetics 2008;82(3):661-72.
2008: Silvio Ferraris; Susanna Clark; Emanuela Garelli; Guido Davidzon; Steven A Moore; Randy Kardon; Rachelle J Bienstock; Matthew J Longley; Michelangelo Mancuso; Purificación Gutiérrez Ríos; Michio Hirano; William C Copeland; Salvatore DiMauro
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Archives of neurology 2008;65(1):125-31.
2008: Catarina M Quinzii; Tuan H Vu; K Christopher Min; Kurenai Tanji; Sandra Barral; Raji P Grewal; Andrea Kattah; Pilir Camaño; David Otaegui; Teruhito Kunimatsu; David M Blake; Kirk Wilhelmsen; Lewis P Rowland; Arthur P Hays; Eduardo Bonilla; Michio Hirano
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
American journal of human genetics 2008;82(1):208-13.
2007: Klaus Gempel; Haluk Topaloglu; Beril Talim; Peter Schneiderat; Benedikt Schoser; Volkmar H Hans; Beatrix Pálmafy; Gülsev Kale; Aysegul Tokatli; Catarina M Quinzii; Michio Hirano; Ali Naini; Salvatore DiMauro; Holger Prokisch; Hanns Lochmüller; Rita Horvath
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Brain : a journal of neurology 2007;130(Pt 8):2037-44.
2007: Maria Lucia Valentino; Ramon Martí; Saba Tadesse; Luis Lopez; Jose L Manes; Judy Lyzak; Angelika Hahn; Valerio Carelli; Michio Hirano
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
FEBS letters 2007;581(18):3410-4.
2007: Maria Carmen Lara; Maria Lucia Valentino; J Torres-Torronteras; Michio Hirano; Ramon Martí
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
Bioscience reports 2007;27(1-3):151-63.
2007: Catarina M Quinzii; Michio Hirano; Salvatore DiMauro
CoQ10 deficiency diseases in adults.
Mitochondrion 2007;7 Suppl():S122-6.
2007: Jong Hee Chae; Jin Sook Lee; Ki Joong Kim; Yong Seung Hwang; Eduardo Bonilla; Kurenai Tanji; Michio Hirano
A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.
Pediatric research 2007;61(5 Pt 1):622-4.
2007: José M López-Martín; Leonardo Salviati; Eva Trevisson; Giovanni Montini; Salvatore DiMauro; Catarina M Quinzii; Michio Hirano; Angeles Rodriguez-Hernandez; Mario D Cordero; José A Sánchez-Alcázar; Carlos Santos-Ocaña; Plácido Navas
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
Human molecular genetics 2007;16(9):1091-7.
2007: Catarina M Quinzii; Salvatore DiMauro; Michio Hirano
Human coenzyme Q10 deficiency.
Neurochemical research 2007;32(4-5):723-7.
2007: Salvatore DiMauro; Catarina M Quinzii; Michio Hirano
Mutations in coenzyme Q10 biosynthetic genes.
The Journal of clinical investigation 2007;117(3):587-9.
2006: Luis Lopez; Markus Schuelke; Catarina M Quinzii; Tomotake Kanki; Richard J T Rodenburg; Ali Naini; Salvatore DiMauro; Michio Hirano
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
American journal of human genetics 2006;79(6):1125-9.
2006: Maria Carmen Lara; B Weiss; I Illa; P Madoz; L Massuet; Antoni L Andreu; Maria Lucia Valentino; Y Anikster; Michio Hirano; Ramon Martí
Infusion of platelets transiently reduces nucleoside overload in MNGIE.
Neurology 2006;67(8):1461-3.
2006: Michio Hirano; Ramon Martí; C Casali; Saba Tadesse; Thomas Uldrick; B Fine; Diana Escolar; Maria Lucia Valentino; Ichizo Nishino; Charles Hesdorffer; Joseph Schwartz; Ria Hawks; D L Martone; Mitchell S Cairo; Salvatore DiMauro; M Stanzani; JH Garvin; David G Savage
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
Neurology 2006;67(8):1458-60.
2006: Charalampos L Karadimas; Tuan H Vu; STEPHEN HOLVE; Penelope Chronopoulou; Catarina M Quinzii; Stanley D Johnsen; Janice Kurth; Elizabeth Eggers; Lluis Palenzuela; Kurenai Tanji; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro; Michio Hirano
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
American journal of human genetics 2006;79(3):544-8.
2006: Salvatore DiMauro; Michio Hirano; Eric A Schon
Approaches to the treatment of mitochondrial diseases.
Muscle & nerve 2006;34(3):265-83.
2006: Giovanna Pontarin; Paola Ferraro; Maria Lucia Valentino; Michio Hirano; Peter Reichard; Vera Bianchi
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy.
The Journal of biological chemistry 2006;281(32):22720-8.
2006: Michio Hirano; Catarina M Quinzii; Salvatore DiMauro
Restoring balance to ataxia with coenzyme Q10 deficiency.
Journal of the neurological sciences 2006;246(1-2):11-2.
2006: Salvatore DiMauro; Guido Davidzon; Michio Hirano
A polymorphic polymerase.
Brain : a journal of neurology 2006;129(Pt 7):1637-9.
2006: Guido Davidzon; Paul Greene; Michelangelo Mancuso; Kevin J Klos; J Eric Ahlskog; Michio Hirano; Salvatore DiMauro
Early-onset familial parkinsonism due to POLG mutations.
Annals of neurology 2006;59(5):859-62.
2006: Sophie Curbo; Clotilde Lagier-Tourenne; Rosalba Carrozzo; Lluis Palenzuela; Simona Lucioli; Michio Hirano; Filippo M Santorelli; Joaquín Arenas; Anna Karlsson; Magnus Johansson
Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.
Genomics 2006;87(3):410-6.
2006: Petra Kaufmann; Kristin Engelstad; Y Wei; Sarah Jhung; Mary Sano; Dikoma Shungu; W S Millar; X Hong; Clifton L Gooch; Xiangling Mao; Juan M Pascual; Michio Hirano; Peter W Stacpoole; Salvatore DiMauro; Darryl C De Vivo
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
Neurology 2006;66(3):324-30.
2006: Catarina M Quinzii; Ali Naini; Leonardo Salviati; Eva Trevisson; Plácido Navas; Salvatore DiMauro; Michio Hirano
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.
American journal of human genetics 2006;78(2):345-9.
2006: Michio Hirano; Ichizo Nishino; Yutaka Nishigaki; Ramon Martí
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Internal medicine (Tokyo, Japan) 2006;45(19):1103.
2005: Celine Perier; Kim Tieu; Christelle Guégan; Casper Caspersen; Vernice Jackson-Lewis; Valerio Carelli; Andrea Martinuzzi; Michio Hirano; Serge Przedborski; Miquel Vila
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(52):19126-31.
2005: Ramon Martí; Jan J Verschuuren; Alan Buchman; Ikuo Hirano; Saba Tadesse; André B P van Kuilenburg; Albert H van Gennip; B J H M Poorthuis; Michio Hirano
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
Annals of neurology 2005;58(4):649-52.
2005: Leonardo Salviati; Sabrina Sacconi; Luisa Murer; Graziella Zacchello; L Franceschini; Anna Maria Laverda; Giuseppe Basso; Catarina M Quinzii; Corrado Angelini; Michio Hirano; Ali Naini; Plácido Navas; Salvatore DiMauro; Giovanni Montini
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
Neurology 2005;65(4):606-8.
2005: Michio Hirano; Clotilde Lagier-Tourenne; Maria Lucia Valentino; Ramon Martí; Yutaka Nishigaki
Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
Gene 2005;354():152-6.
2005: Mercy M Davidson; Claudia Nesti; Lluis Palenzuela; Winsome F Walker; Evelyn Hernandez; Lev Protas; Michio Hirano; Nithila D Isaac
Novel cell lines derived from adult human ventricular cardiomyocytes.
Journal of molecular and cellular cardiology 2005;39(1):133-47.
2005: Lluis Palenzuela; Noah M Hahn; Robert P Nelson; Janet N Arno; Carol Schobert; Robert Bethel; Lisa A Ostrowski; Manjuli R Sharma; Partha Datta; Rajendra K Agrawal; Jennifer E Schwartz; Michio Hirano
Does linezolid cause lactic acidosis by inhibiting mitochondrial protein synthesis?
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2005;40(12):e113-6.
2005: Guido Davidzon; Michelangelo Mancuso; Silvio Ferraris; Catarina M Quinzii; Michio Hirano; Heidi L Peters; Denise Kirby; David R Thorburn; Salvatore DiMauro
POLG mutations and Alpers syndrome.
Annals of neurology 2005;57(6):921-3.
2005: Salvatore DiMauro; Michio Hirano
Mitochondrial encephalomyopathies: an update.
Neuromuscular disorders : NMD 2005;15(4):276-86.
2005: Ali Naini; Jiesheng Lu; Petra Kaufmann; Richard A Bernstein; Michelangelo Mancuso; Eduardo Bonilla; Michio Hirano; Salvatore DiMauro
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
Archives of neurology 2005;62(3):473-6.
2005: Catarina M Quinzii; A G Kattah; Ali Naini; Hasan O Akman; V K Mootha; Salvatore DiMauro; Michio Hirano
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Neurology 2005;64(3):539-41.
2005: Michelangelo Mancuso; Silvio Ferraris; Yutaka Nishigaki; Gaetano Azan; Alessandro Mauro; Piero Sammarco; Sindu Krishna; Stacey K H Tay; Eduardo Bonilla; Stephen G Romansky; Michio Hirano; Salvatore DiMauro
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
Journal of the neurological sciences 2005;228(1):93-7.
2005: Josep Gamez; Maria Carmen Lara; Fermín Mearin; Carlos Oliveras-Ley; Nuria Raguer; Montse Olive; Andres T Leist; Antonia Perello; Mónica Perona; Carlos Cervera; Antoni L Andreu; Ramon Martí; Michio Hirano
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
Journal of the neurological sciences 2005;228(1):35-9.
2004: Michio Hirano; Ramon Martí; antonella spinazzola; Ichizo Nishino; Yutaka Nishigaki
Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1217-25.
2004: Petra Kaufmann; Dikoma Shungu; Mary Sano; Sarah Jhung; Kristin Engelstad; effie mitsis; Xiangling Mao; Sara Shanske; Michio Hirano; Salvatore DiMauro; Darryl C De Vivo
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Neurology 2004;62(8):1297-302.
2004: Michio Hirano; Yutaka Nishigaki; Ramon Martí
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
The neurologist 2004;10(1):8-17.
2004: Ramon Martí; antonella spinazzola; Saba Tadesse; Ichizo Nishino; Yutaka Nishigaki; Michio Hirano
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
Clinical chemistry 2004;50(1):120-4.
2004: Yutaka Nishigaki; Ramon Marti; Michio Hirano
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
Human molecular genetics 2004;13(1):91-101.
2003: Massimiliano Filosto; Michelangelo Mancuso; Cristofol Vives-Bauza; Maya R Vilà; Sara Shanske; Michio Hirano; Antoni L Andreu; Salvatore DiMauro
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
Annals of neurology 2003;54(4):524-6.
2003: Massimiliano Filosto; Michelangelo Mancuso; Yutaka Nishigaki; Jacklyn Pancrudo; Yadollah Harati; Clifton L Gooch; Ami Mankodi; Lydia Bayne; Eduardo Bonilla; Sara Shanske; Michio Hirano; Salvatore DiMauro
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Archives of neurology 2003;60(9):1279-84.
2003: Lluís Palenzuela; Antoni L Andreu; J Gàmez; Maya R Vilà; T Kunimatsu; Anna Meseguer; Carlos Cervera; I Fernandez Cadenas; Peter F.M. van der Ven; T G Nygaard; Eduardo Bonilla; Michio Hirano
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
Neurology 2003;61(3):404-6.
2003: Ramon Martí; Yutaka Nishigaki; Maya R Vilá; Michio Hirano
Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2003;41(7):845-51.
2003: Michelangelo Mancuso; Massimiliano Filosto; Eduardo Bonilla; Michio Hirano; Sara Shanske; Tuan H Vu; Salvatore DiMauro
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
Archives of neurology 2003;60(7):1007-9.
2003: Yutaka Nishigaki; Ramon Martí; William C Copeland; Michio Hirano
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.
The Journal of clinical investigation 2003;111(12):1913-21.
2003: Yutaka Nishigaki; Saba Tadesse; Eduardo Bonilla; Dikoma Shungu; Stephen Hersh; Bronya J B Keats; Charles I Berlin; Morton F Goldberg; Jerry Vockley; Salvatore DiMauro; Michio Hirano
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.
Neuromuscular disorders : NMD 2003;13(4):334-40.
2003: Costanza Lamperti; Ali Naini; Michio Hirano; Darryl C De Vivo; E Bertini; Serenella Servidei; M Valeriani; D Lynch; B Banwell; M Berg; T Dubrovsky; Claudia A Chiriboga; Corrado Angelini; Elena Pegoraro; Salvatore DiMauro
Cerebellar ataxia and coenzyme Q10 deficiency.
Neurology 2003;60(7):1206-8.
2003: Maya R Vilà; Toni Segovia-Silvestre; Josep Gámez; Alberto Marina; Ali Naini; Anna Meseguer; A Lombès; Eduardo Bonilla; Salvatore DiMauro; Michio Hirano; Antoni L Andreu
Reversion of mtDNA depletion in a patient with TK2 deficiency.
Neurology 2003;60(7):1203-5.
2003: Ramon Martí; Yutaka Nishigaki; Michio Hirano
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.
Biochemical and biophysical research communications 2003;303(1):14-8.
2003: Ali Naini; Vernice-Jackson Lewis; Michio Hirano; Salvatore DiMauro
Primary coenzyme Q10 deficiency and the brain.
BioFactors (Oxford, England) 2003;18(1-4):145-52.
2003: Antoni L Andreu; Ramon Martí; Michio Hirano
Analysis of human mitochondrial DNA mutations.
Methods in molecular biology (Clifton, N.J.) 2003;217():185-97.
2002: Ramon Marti; antonella spinazzola; Ichizo Nishino; Antoni L Andreu; Ali Naini; Saba Tadesse; Juan A Oliver; Michio Hirano
Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.
Mitochondrion 2002;2(1-2):143-7.
2002: Michelangelo Mancuso; Leonardo Salviati; Sabrina Sacconi; David Otaegui; Pilar Camaño; Alberto Marina; Sandra R Bacman; Carlos T Moraes; Jose R Carlo; M Garcia; M Garcia-Alvarez; L Monzon; Ali Naini; Michio Hirano; Eduardo Bonilla; A L Taratuto; Salvatore DiMauro; Tuan H Vu
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Neurology 2002;59(8):1197-202.
2002: Leonardo Salviati; Sabrina Sacconi; Michelangelo Mancuso; David Otaegui; Pilar Camaño; Alberto Marina; Simon Rabinowitz; Rebecca Shiffman; Karen Thompson; Claire M Wilson; Annette Feigenbaum; Ali Naini; Michio Hirano; Eduardo Bonilla; Salvatore DiMauro; Tuan H Vu
Mitochondrial DNA depletion and dGK gene mutations.
Annals of neurology 2002;52(3):311-7.
2002: Sara Shanske; Yingying Tang; Michio Hirano; Yutaka Nishigaki; Kurenai Tanji; Eduardo Bonilla; Carolyn M Sue; Sindu Krishna; Jose R Carlo; Judith Willner; Eric A Schon; Salvatore DiMauro
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.
American journal of human genetics 2002;71(3):679-83.
2002: Josep Gamez; C Ferreiro; M L Accarino; L Guarner; Saba Tadesse; Ramon Martí; Antoni L Andreu; Nuria Raguer; Carlos Cervera; Michio Hirano
Phenotypic variability in a Spanish family with MNGIE.
Neurology 2002;59(3):455-7.
2002: Tuan H Vu; Michio Hirano; Salvatore DiMauro
Mitochondrial diseases.
Neurologic clinics 2002;20(3):809-39, vii-viii.
2002: Carla Giordano; Francesco Pallotti; Winsome F Walker; Nicoletta Checcarelli; Olimpia Musumeci; Filippo M Santorelli; Giulia d'Amati; Eric A Schon; Salvatore DiMauro; Michio Hirano; Mercy M Davidson
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.
Biochemical and biophysical research communications 2002;293(1):521-9.
2002: Yutaka Nishigaki; Eduardo Bonilla; Sara Shanske; D A Gaskin; Salvatore DiMauro; Michio Hirano
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
Neurology 2002;58(8):1282-5.
2002: antonella spinazzola; Ramon Marti; Ichizo Nishino; Antoni L Andreu; Ali Naini; Saba Tadesse; Ivana Pela; Enrico Zammarchi; Maria Alice Donati; Juan A Oliver; Michio Hirano
Altered thymidine metabolism due to defects of thymidine phosphorylase.
The Journal of biological chemistry 2002;277(6):4128-33.
2002: Salvatore DiMauro; Michio Hirano; Petra Kaufmann; Kurenai Tanji; Mary Sano; Dikoma Shungu; Eduardo Bonilla; Darryl C DeVivo
Clinical features and genetics of myoclonic epilepsy with ragged red fibers.
Advances in neurology 2002;89():217-29.
2001: Michio Hirano; Ramon Marti; C Ferreiro-Barros; Maya R Vilà; Saba Tadesse; Yutaka Nishigaki; Ichizo Nishino; Tuan H Vu
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
Seminars in cell & developmental biology 2001;12(6):417-27.
2001: D Opial; Matthias Boehnke; S Tadesse; A Lietz-Partzsch; J Flammer; Francis Munier; A Mermoud; Michio Hirano; F Flückiger; Daniel S Mojon
Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2001;239(6):437-40.
2001: Olimpia Musumeci; Ali Naini; A E Slonim; N Skavin; G L Hadjigeorgiou; N Krawiecki; B M Weissman; Chang-Yong Tsao; Jerry R Mendell; Sara Shanske; Darryl C De Vivo; Michio Hirano; Salvatore DiMauro
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
Neurology 2001;56(7):849-55.
2001: Josep Gamez; Carmen Navarro; Antoni L Andreu; JM Fernandez; Lluís Palenzuela; S Tejeira; Roberto Fernandez-Hojas; S Schwartz; Charalampos L Karadimas; Salvatore DiMauro; Michio Hirano; Carlos Cervera
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.
Neurology 2001;56(4):450-4.
2001: Ichizo Nishino; antonella spinazzola; Michio Hirano
MNGIE: from nuclear DNA to mitochondrial DNA.
Neuromuscular disorders : NMD 2001;11(1):7-10.
2000: Yingying Tang; Giovanni Manfredi; Michio Hirano; Eric A Schon
Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines.
Molecular biology of the cell 2000;11(7):2349-58.
2000: Michio Hirano; Tuan H Vu
Defects of intergenomic communication: where do we stand?
Brain pathology (Zurich, Switzerland) 2000;10(3):451-61.
2000: Ichizo Nishino; antonella spinazzola; A Papadimitriou; S Hammans; I Steiner; C D Hahn; A M Connolly; Alain Verloes; J Guimarães; Ivan P Maillard; H Hamano; Maria Alice Donati; Carol E Semrad; J A Russell; Antoni L Andreu; Georgios M Hadjigeorgiou; Tuan H Vu; Saba Tadesse; TG Nygaard; I Nonaka; I Hirano; Eduardo Bonilla; Lewis P Rowland; Salvatore DiMauro; Michio Hirano
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology 2000;47(6):792-800.
2000: Carolyn M Sue; Charalampos L Karadimas; Nicoletta Checcarelli; Kurenai Tanji; Lefkothea C Papadopoulou; Francesco Pallotti; F L Guo; Sara Shanske; Michio Hirano; Darryl C De Vivo; R Van Coster; P Kaplan; Eduardo Bonilla; Salvatore DiMauro
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Annals of neurology 2000;47(5):589-95.
2000: Salvatore DiMauro; Michio Hirano; Eric A Schon
Mitochondrial encephalomyopathies: therapeutic approaches.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(5 Suppl):S901-8.
2000: Tuan H Vu; Kurenai Tanji; Francesco Pallotti; V Golzi; Michio Hirano; Salvatore DiMauro; Eduardo Bonilla
Analysis of mtDNA deletions in muscle by in situ hybridization.
Muscle & nerve 2000;23(1):80-5.
1999: R Carrozzo; Mercy M Davidson; Winsome F Walker; Michio Hirano; Armand F Miranda
Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions.
Journal of the neurological sciences 1999;170(1):24-31.
1999: Lefkothea C Papadopoulou; Carolyn M Sue; Mercy M Davidson; Kurenai Tanji; I Nishino; James E Sadlock; S Krishna; W Walker; J Selby; D Moira Glerum; R V Coster; G Lyon; E Scalais; R Lebel; P Kaplan; Sara Shanske; Darryl C De Vivo; Eduardo Bonilla; Michio Hirano; Salvatore DiMauro; Eric A Schon
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics 1999;23(3):333-7.
1999: Carolyn M Sue; Kurenai Tanji; Georgios M Hadjigeorgiou; Antoni L Andreu; Ichizo Nishino; S Krishna; Claudio Bruno; Michio Hirano; Sara Shanske; Eduardo Bonilla; Nathan Fischel-Ghodsian; Salvatore DiMauro; R Friedman
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Neurology 1999;52(9):1905-8.
1999: Carolyn M Sue; Michio Hirano; Salvatore DiMauro; Darryl C De Vivo
Neonatal presentations of mitochondrial metabolic disorders.
Seminars in perinatology 1999;23(2):113-24.
1999: Daniel S Mojon; K Fujihara; Michio Hirano; C Miller; Norah S Lincoff; Lawrence D Jacobs; Steven J Greenberg
Leber's hereditary optic neuropathy mitochondrial DNA mutations in familial multiple sclerosis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1999;237(4):348-50.
1999: Eduardo Bonilla; K Tanji; Michio Hirano; T H Vu; Salvatore DiMauro; Eric A Schon
Mitochondrial involvement in Alzheimer's disease.
Biochimica et biophysica acta 1999;1410(2):171-82.
1999: Ichizo Nishino; antonella spinazzola; Michio Hirano
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Science (New York, N.Y.) 1999;283(5402):689-92.
1999: Salvatore DiMauro; R Kulikova; Kurenai Tanji; Eduardo Bonilla; Michio Hirano
Mitochondrial genes for generalized epilepsies.
Advances in neurology 1999;79():411-9.
1999: Daniel S Mojon; J Herbert; S A Sadiq; J R Miller; M Madonna; Michio Hirano
Leber's hereditary optic neuropathy mitochondrial DNA mutations at nucleotides 11778 and 3460 in multiple sclerosis.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 1999;213(3):171-5.
1998: Antoni L Andreu; Claudio Bruno; Sara Shanske; A Shtilbans; Michio Hirano; S Krishna; L Hayward; D S Systrom; R H Brown; Salvatore DiMauro
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Neurology 1998;51(5):1444-7.
1998: Salvatore DiMauro; Eduardo Bonilla; Mercy Davidson; Michio Hirano; Eric A Schon
Mitochondria in neuromuscular disorders.
Biochimica et biophysica acta 1998;1366(1-2):199-210.
1998: Michio Hirano; J Garcia-de-Yebenes; AC Jones; Ichizo Nishino; Salvatore DiMauro; Jose R Carlo; A N Bender; A F Hahn; L M Salberg; D E Weeks; TG Nygaard
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
American journal of human genetics 1998;63(2):526-33.
1998: R Carrozzo; Michio Hirano; B Fromenty; C Casali; Filippo M Santorelli; Eduardo Bonilla; Salvatore DiMauro; Eric A Schon; Armand F Miranda
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
Neurology 1998;50(1):99-106.
1997: Michio Hirano; A Shtilbans; Richard Mayeux; Mercy M Davidson; Salvatore DiMauro; James A Knowles; Eric A Schon
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(26):14894-9.
1997: Giovanni Manfredi; T Vu; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro; E Arnaudo; L Zhang; Lewis P Rowland; Michio Hirano
Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?
Annals of neurology 1997;42(2):180-8.
1997: Claudia Sobreira; Michio Hirano; Sara Shanske; R. Kennedy Keller; R G Haller; Edgar Davidson; Filippo M Santorelli; Armand F Miranda; Eduardo Bonilla; D S Mojon; Amilton A Barreira; Michael P King; Salvatore DiMauro
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
Neurology 1997;48(5):1238-43.
1997: Daniel S Mojon; Petra Kaufmann; Jeffrey G Odel; Norah S Lincoff; M Márquez-Fernandez; R Santiesteban; D Fuentes-Pelier; Michio Hirano
Clinical course of a cohort in the Cuban epidemic optic and peripheral neuropathy.
Neurology 1997;48(1):19-22.
1996: P Kaufmann; Y Koga; Sara Shanske; Michio Hirano; Salvatore DiMauro; Michael P King; Eric A Schon
Mitochondrial DNA and RNA processing in MELAS.
Annals of neurology 1996;40(2):172-80.
1994: Eric A Schon; Michio Hirano; Salvatore DiMauro
Mitochondrial encephalomyopathies: clinical and molecular analysis.
Journal of bioenergetics and biomembranes 1994;26(3):291-9.
1994: Michio Hirano; J M Cleary; A M Stewart; Norah S Lincoff; Jeffrey G Odel; R Santiesteban; R Santiago Luis
Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba.
Neurology 1994;44(5):843-5.
1994: Michio Hirano; G Silvestri; D M Blake; A Lombes; Carlo Minetti; Eduardo Bonilla; Arthur P Hays; R E Lovelace; I Butler; T E Bertorini
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
Neurology 1994;44(4):721-7.
1994: Michio Hirano; S G Pavlakis
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts.
Journal of child neurology 1994;9(1):4-13.
1993: Carlos T Moraes; F Ciacci; Eduardo Bonilla; C Jansen; Michio Hirano; N Rao; R E Lovelace; Lewis P Rowland; Eric A Schon; Salvatore DiMauro
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
The Journal of clinical investigation 1993;92(6):2906-15.
1993: M Sparaco; Asao Hirano; Michio Hirano; Salvatore DiMauro; Eduardo Bonilla
Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study.
Brain pathology (Zurich, Switzerland) 1993;3(4):349-54.
1993: Norah S Lincoff; Jeffrey G Odel; Michio Hirano
'Outbreak' of optic and peripheral neuropathy in Cuba?
JAMA : the journal of the American Medical Association 1993;270(4):511-8.
1993: Salvatore DiMauro; S Simonetti; X Chen; V Petruzzella; Michio Hirano; Sara Shanske; Carlos T Moraes; Eric A Schon
Mitochondrial dysfunction as a mechanism of CNS injury.
Research publications - Association for Research in Nervous and Mental Disease 1993;71():67-79.
1993: Carlos T Moraes; F Ciacci; G Silvestri; Sara Shanske; M Sciacco; Michio Hirano; Eric A Schon; Eduardo Bonilla; Salvatore DiMauro
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.
Neuromuscular disorders : NMD 1993;3(1):43-50.
1992: G M Fabrizi; J Sadlock; Michio Hirano; S Mita; Y Koga; R Rizzuto; M Zeviani; Eric A Schon
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase.
Gene 1992;119(2):307-12.
1992: E Arnaudo; Michio Hirano; R S Seelan; A Milatovich; C L Hsieh; G M Fabrizi; Lawrence I Grossman; Uta Francke; Eric A Schon
Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase.
Gene 1992;119(2):299-305.
1992: E Ciafaloni; E Ricci; Sara Shanske; Carlos T Moraes; G Silvestri; Michio Hirano; S Simonetti; Corrado Angelini; M A Donati; C Garcia
MELAS: clinical features, biochemistry, and molecular genetics.
Annals of neurology 1992;31(4):391-8.
1992: Dale J Lange; Werner Trojaborg; Norman Latov; Arthur P Hays; DS Younger; Antonino Uncini; D M Blake; Michio Hirano; S M Burns; R E Lovelace
Multifocal motor neuropathy with conduction block: is it a distinct clinical entity?
Neurology 1992;42(3 Pt 1):497-505.
1992: Michio Hirano; E Ricci; M R Koenigsberger; R Defendini; S G Pavlakis; Darryl C DeVivo; Salvatore DiMauro; L P Rowland
Melas: an original case and clinical criteria for diagnosis.
Neuromuscular disorders : NMD 1992;2(2):125-35.