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Salvatore DiMauro

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Chemicals & Drugs

Physiology

Anatomy

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Infant

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Publications

TOP 3
Horvath Rita; Kemp John P; Tuppen Helen A L; Hudson Gavin; Oldfors Anders; Marie Suely K N; Moslemi Ali-Reza; Servidei Serenella; Holme Elisabeth; Shanske Sara; Kollberg Gittan; Jayakar Parul; Pyle Angela; Marks Harold M; Holinski-Feder Elke; Scavina Mena; Walter Maggie C; Coku Jorida; Günther-Scholz Andrea; Smith Paul M; McFarland Robert; Chrzanowska-Lightowlers Zofia M A; Lightowlers Robert N; Hirano Michio; Lochmüller Hanns; Taylor Robert W; Chinnery Patrick F; Tulinius Mar; DiMauro Salvatore
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Sgarbi Gianluca; Casalena Gabriella A; Baracca Alessandra; Lenaz Giorgio; DiMauro Salvatore; Solaini Giancarlo
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.
Hirano Michio; DiMauro Salvatore
VMA21 deficiency: a case of myocyte indigestion.

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All Publications

2009: Horvath Rita; Kemp John P; Tuppen Helen A L; Hudson Gavin; Oldfors Anders; Marie Suely K N; Moslemi Ali-Reza; Servidei Serenella; Holme Elisabeth; Shanske Sara; Kollberg Gittan; Jayakar Parul; Pyle Angela; Marks Harold M; Holinski-Feder Elke; Scavina Mena; Walter Maggie C; Coku Jorida; Günther-Scholz Andrea; Smith Paul M; McFarland Robert; Chrzanowska-Lightowlers Zofia M A; Lightowlers Robert N; Hirano Michio; Lochmüller Hanns; Taylor Robert W; Chinnery Patrick F; Tulinius Mar; DiMauro Salvatore
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain : a journal of neurology 2009;132(Pt 11):3165-74.
2009: Sgarbi Gianluca; Casalena Gabriella A; Baracca Alessandra; Lenaz Giorgio; DiMauro Salvatore; Solaini Giancarlo
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.
Archives of neurology 2009;66(8):951-7.
2009: Hirano Michio; DiMauro Salvatore
VMA21 deficiency: a case of myocyte indigestion.
Cell 2009;137(2):213-5.
2009: Dimauro Salvatore; Milone Margherita; Keegan B Mark
A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia.
Neurology 2009;72(14):1262-8.
2009: Sotiriou Evangelia; Coku Jorida; Tanji Kurenai; Huang Hua-bin; Hirano Michio; DiMauro Salvatore
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2009;19(4):297-9.
2009: Chandler Randy J; Zerfas Patricia M; Shanske Sara; Sloan Jennifer; Hoffmann Victoria; DiMauro Salvatore; Venditti Charles P
Mitochondrial dysfunction in mut methylmalonic acidemia.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009;23(4):1252-61.
2009: Naini Ali; Toscano Antonio; Musumeci Olimpia; Vissing John; Akman Hasan O; DiMauro Salvatore
Muscle phosphoglycerate mutase deficiency revisited.
Archives of neurology 2009;66(3):394-8.
2009: Spiegel Ronen; Gomez Estela Area; Akman Hasan O; Krishna Sindu; Horovitz Yoseph; DiMauro Salvatore
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Neuromuscular disorders : NMD 2009;19(3):207-11.
2009: Mehrazin Mahsa; Shanske Sara; Kaufmann Petra; Wei Ying; Coku Jorida; Engelstad Kristin; Naini Ali; De Vivo Darryl C; DiMauro Salvatore
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.
American journal of medical genetics. Part A 2009;149A(4):584-7.
2009: Kaufmann Petra; Engelstad Kristin; Wei Ying; Kulikova Romana; Oskoui Maryam; Battista Vanessa; Koenigsberger Dorcas Y; Pascual Juan M; Sano Mary; Hirano Michio; DiMauro Salvatore; Shungu Dikoma C; Mao Xiangling; De Vivo Darryl C
Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Archives of neurology 2009;66(1):85-91.
2008: Tay Stacey K H; Dimauro Salvatore; Pang Aileen Y W; Lai Poh-San; Yap Hui-Kim
Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation.
Pediatric neurology 2008;39(6):426-8.
2008: Campagna Filomena; Nanni Luisa; Quagliarini Fabiana; Pennisi Elena; Michailidis Constantine; Pierelli Francesco; Bruno Claudio; Casali Carlo; DiMauro Salvatore; Arca Marcello
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.
Biochemical and biophysical research communications 2008;377(3):843-6.
2008: Ferreiro-Barros Claudia C; Tengan Célia H; Barros Mário H; Palenzuela Lluis; Kanki Chisaka; Quinzii Catarina; Lou Johanna; El Gharaby Nader; Shokr Aly; De Vivo Darryl C; DiMauro Salvatore; Hirano Michio
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.
Journal of the neurological sciences 2008;275(1-2):128-32.
2008: Bruno Claudio; Dimauro Salvatore
Lipid storage myopathies.
Current opinion in neurology 2008;21(5):601-6.
2008: DiMauro Salvatore; Villaroya Julio Montoya
Giuseppe Attardi, MD (1923-2008).
Archives of neurology 2008;65(8):1130.
2008: Tanji Kurenai; Kaufmann Petra; Naini Ali B; Lu Jiesheng; Parsons Timothy C; Wang Dong; Willey Joshua Z; Shanske Sara; Hirano Michio; Bonilla Eduardo; Khandji Alexander; Dimauro Salvatore; Rowland Lewis P
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Journal of the neurological sciences 2008;270(1-2):23-7.
2008: Firshman Anna M; Valberg Stephanie J; Baird John D; Hunt Luanne; DiMauro Salvatore
Insulin sensitivity in Belgian horses with polysaccharide storage myopathy.
American journal of veterinary research 2008;69(6):818-23.
2008: Bornstein Belén; Area Estela; Flanigan Kevin M; Ganesh Jaya; Jayakar Parul; Swoboda Kathryn J; Coku Jorida; Naini Ali; Shanske Sara; Tanji Kurenai; Hirano Michio; DiMauro Salvatore
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Neuromuscular disorders : NMD 2008;18(6):453-9.
2008: 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
A functionally dominant mitochondrial DNA mutation.
Human molecular genetics 2008;17(12):1814-20.
2008: Quinzii Catarina M; López Luis C; Von-Moltke Jakob; Naini Ali; Krishna Sindu; Schuelke Markus; Salviati Leonardo; Navas Plácido; DiMauro Salvatore; Hirano Michio
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(6):1874-85.
2008: McCue Molly E; Valberg Stephanie J; Miller Michael B; Wade Claire; DiMauro Salvatore; Akman Hasan O; Mickelson James R
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
Genomics 2008;91(5):458-66.
2008: Bruno Claudio; Bertini Enrico; Di Rocco Maja; Cassandrini Denise; Ruffa Giuseppe; De Toni Teresa; Seri Marco; Spada Marco; Li Volti Giovanni; D'Amico Adele; Trucco Federica; Arca Marcello; Casali Carlo; Angelini Corrado; Dimauro Salvatore; Minetti Carlo
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Biochemical and biophysical research communications 2008;369(4):1125-8.
2008: Amiott Elizabeth A; Lott Paul; Soto Jamie; Kang Peter B; McCaffery J Michael; DiMauro Salvatore; Abel E Dale; Flanigan Kevin M; Lawson Victoria H; Shaw Janet M
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
Experimental neurology 2008;211(1):115-27.
2008: Konstantinidou A E; Anninos H; Dertinger S; Nonni A; Petersen M; Karadimas C; Havaki S; Marinos E; Akman H O; DiMauro S; Patsouris E
Placental involvement in glycogen storage disease type IV.
Placenta 2008;29(4):378-81.
2008: Hirano Michio; Angelini Corrado; Montagna Pasquale; Hays Arthur P; Tanji Kurenai; Mitsumoto Hiroshi; Gordon Paul H; Naini Ali B; DiMauro Salvatore; Rowland Lewis P
Amyotrophic lateral sclerosis with ragged-red fibers.
Archives of neurology 2008;65(3):403-6.
2008: Shanske Sara; Coku Jorida; Lu Jiesheng; Ganesh Jaya; Krishna Sindu; Tanji Kurenai; Bonilla Eduardo; Naini Ali B; Hirano Michio; DiMauro Salvatore
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: Lagier-Tourenne Clotilde; Tazir Meriem; López Luis Carlos; Quinzii Catarina M; Assoum Mirna; Drouot Nathalie; Busso Cleverson; Makri Samira; Ali-Pacha Lamia; Benhassine Traki; Anheim Mathieu; Lynch David R; Thibault Christelle; Plewniak Frédéric; Bianchetti Laurent; Tranchant Christine; Poch Olivier; DiMauro Salvatore; Mandel Jean-Louis; Barros Mario H; Hirano Michio; Koenig Michel
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: Mancuso Michelangelo; Ricci Giulia; Choub Anna; Filosto Massimiliano; DiMauro Salvatore; Davidzon Guido; Tessa Alessandra; Santorelli Filippo M; Murri Luigi; Siciliano Gabriele
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.
Journal of affective disorders 2008;106(1-2):173-7.
2008: Ferraris Silvio; Clark Susanna; Garelli Emanuela; Davidzon Guido; Moore Steven A; Kardon Randy H; Bienstock Rachelle J; Longley Matthew J; Mancuso Michelangelo; Gutiérrez Ríos Purificación; Hirano Michio; Copeland William C; DiMauro Salvatore
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: Wiltshire Esko; Davidzon Guido; DiMauro Salvatore; Akman Hasan O; Sadleir Lynette; Haas Lindsay; Zuccollo Jane; McEwen Alison; Thorburn David R
Juvenile Alpers disease.
Archives of neurology 2008;65(1):121-4.
2008: Tuppen H A L; Fattori F; Carrozzo R; Zeviani M; DiMauro S; Seneca S; Martindale J E; Olpin S E; Treacy E P; McFarland R; Santorelli F M; Taylor R W
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Journal of medical genetics 2008;45(1):55-61.
2008: DiMauro Salvatore; Schon Eric A
Mitochondrial disorders in the nervous system.
Annual review of neuroscience 2008;31():91-123.
2007: Akman Hasan O; Sampayo James N; Ross Fiona A; Scott John W; Wilson Gregory; Benson Lee; Bruno Claudio; Shanske Sara; Hardie D Grahame; Dimauro Salvatore
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Pediatric research 2007;62(4):499-504.
2007: Pancrudo Jacklyn; Shanske Sara; Coku Jorida; Lu J; Mardach Rebecca; Akman Orhan; Krishna Sindu; Bonilla Eduardo; DiMauro Salvatore
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Neuromuscular disorders : NMD 2007;17(8):651-4.
2007: Gempel Klaus; Topaloglu Haluk; Talim Beril; Schneiderat Peter; Schoser Benedikt G H; Hans Volkmar H; Pálmafy Beatrix; Kale Gulsev; Tokatli Aysegul; Quinzii Catarina; Hirano Michio; Naini Ali; DiMauro Salvatore; Prokisch Holger; Lochmüller Hanns; Horvath Rita
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: Pancrudo Jacklyn; Shanske Sara; Bonilla Eduardo; Daras Mariza; Akman Hasan O; Krishna Sindu; Malkin Elfrida; DiMauro Salvatore
Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
Journal of child neurology 2007;22(7):858-62.
2007: Hakonen Anna H; Davidzon Guido; Salemi Renato; Bindoff Laurence A; Van Goethem Gert; Dimauro Salvatore; Thorburn David R; Suomalainen Anu
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
European journal of human genetics : EJHG 2007;15(7):779-83.
2007: DiMauro Salvatore; Mancuso Michelangelo
Mitochondrial diseases: therapeutic approaches.
Bioscience reports 2007;27(1-3):125-37.
2007: Quinzii Catarina M; Hirano Michio; DiMauro Salvatore
CoQ10 deficiency diseases in adults.
Mitochondrion 2007;7 Suppl():S122-6.
2007: DiMauro Salvatore
Mitochondrial DNA medicine.
Bioscience reports 2007;27(1-3):5-9.
2007: 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
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
Human molecular genetics 2007;16(9):1091-7.
2007: Quinzii Catarina M; DiMauro Salvatore; Hirano Michio
Human coenzyme Q10 deficiency.
Neurochemical research 2007;32(4-5):723-7.
2007: DiMauro Salvatore; Quinzii Catarina M; Hirano Michio
Mutations in coenzyme Q10 biosynthetic genes.
The Journal of clinical investigation 2007;117(3):587-9.
2007: Scuderi Carmela; Borgione Eugenia; Musumeci Sebastiano; Elia Maurizio; Castello Filippa; Fichera Marco; Davidzon Guido; DiMauro Salvatore
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
Neuromuscular disorders : NMD 2007;17(3):258-61.
2007: Schubert William; Sotgia Federica; Cohen Alex W; Capozza Franco; Bonuccelli Gloria; Bruno Claudio; Minetti Carlo; Bonilla Eduardo; Dimauro Salvatore; Lisanti Michael P
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation.
The American journal of pathology 2007;170(1):316-33.
2007: Alemi Mansour; Prigione Alessandro; Wong Alice; Schoenfeld Robert; DiMauro Salvatore; Hirano Michio; Taroni Franco; Cortopassi Gino
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.
Free radical biology & medicine 2007;42(1):32-43.
2007: Dimauro Salvatore; Akman Orhan; Hays Arthur P
Disorders of carbohydrate metabolism.
Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2007;86():167-82.
2007: Schon Eric A; DiMauro Salvatore
Mitochondrial mutations: genotype to phenotype.
Novartis Foundation symposium 2007;287():214-25; discussion 226-33.
2006: López Luis Carlos; Schuelke Markus; Quinzii Catarina M; Kanki Tomotake; Rodenburg Richard J T; Naini Ali; Dimauro Salvatore; Hirano Michio
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: Dimauro Salvatore; Hirano Michio
Pedaling from genotype to phenotype.
Archives of neurology 2006;63(12):1679-80.
2006: DiMauro Salvatore
Mitochondrial myopathies.
Current opinion in rheumatology 2006;18(6):636-41.
2006: Oh Shin J; Park Kyung-Seok; Ryan Hewitt F; Danon Moris J; Lu Jiesheng; Naini Ali B; DiMauro Salvatore
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.
Muscle & nerve 2006;34(5):572-6.
2006: Hirano M; Martí R; Casali C; Tadesse S; Uldrick T; Fine B; Escolar D M; Valentino M L; Nishino I; Hesdorffer C; Schwartz J; Hawks R G; Martone D L; Cairo M S; DiMauro S; Stanzani M; Garvin J H; Savage D G
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.
Neurology 2006;67(8):1458-60.
2006: Akman H Orhan; Karadimas Charalampos; Gyftodimou Yolanda; Grigoriadou Maria; Kokotas Haris; Konstantinidou Anastasia; Anninos Hector; Patsouris Efstratios; Thaker Harshwardhan M; Kaplan Jeffrey B; Besharat Isaam; Hatzikonstantinou Konstantina; Fotopoulos Spyridon; Dimauro Salvatore; Petersen Michael B
Prenatal diagnosis of glycogen storage disease type IV.
Prenatal diagnosis 2006;26(10):951-5.
2006: Karadimas Charalampos L; Vu Tuan H; Holve Stephen A; Chronopoulou Penelope; Quinzii Catarina; Johnsen Stanley D; Kurth Janice; Eggers Elizabeth; Palenzuela Lluis; Tanji Kurenai; Bonilla Eduardo; De Vivo Darryl C; DiMauro Salvatore; Hirano Michio
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
American journal of human genetics 2006;79(3):544-8.
2006: DiMauro Salvatore; Hirano Michio; Schon Eric A
Approaches to the treatment of mitochondrial diseases.
Muscle & nerve 2006;34(3):265-83.
2006: Oskoui Maryam; Davidzon Guido; Pascual Juan; Erazo Ricardo; Gurgel-Giannetti Juliana; Krishna Sindu; Bonilla Eduardo; De Vivo Darryl C; Shanske Sara; DiMauro Salvatore
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Archives of neurology 2006;63(8):1122-6.
2006: DiMauro Salvatore; Davidzon Guido; Hirano Michio
A polymorphic polymerase.
Brain : a journal of neurology 2006;129(Pt 7):1637-9.
2006: Hirano Michio; Quinzii Catarina M; Dimauro Salvatore
Restoring balance to ataxia with coenzyme Q10 deficiency.
Journal of the neurological sciences 2006;246(1-2):11-2.
2006: Konstantinidou A E; Anninos H; Gyftodimou Y; Petersen M B; Karadimas C; Fotopoulos S; Paraskevakou H; Akman H O; Dimauro S; Patsouris E
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.
Histopathology 2006;48(7):878-80.
2006: Kaufmann Petra; Pascual Juan M; Anziska Yaacov; Gooch Clifton L; Engelstad Kristin; Jhung Sarah; DiMauro Salvatore; De Vivo Darryl C
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.
Archives of neurology 2006;63(5):746-8.
2006: Davidzon Guido; Greene Paul; Mancuso Michelangelo; Klos Kevin J; Ahlskog J Eric; Hirano Michio; DiMauro Salvatore
Early-onset familial parkinsonism due to POLG mutations.
Annals of neurology 2006;59(5):859-62.
2006: Spinazzola Antonella; Viscomi Carlo; Fernandez-Vizarra Erika; Carrara Franco; D'Adamo Pio; Calvo Sarah; Marsano René Massimiliano; Donnini Claudia; Weiher Hans; Strisciuglio Pietro; Parini Rossella; Sarzi Emmanuelle; Chan Alicia; DiMauro Salvatore; Rötig Agnes; Gasparini Paolo; Ferrero Iliana; Mootha Vamsi K; Tiranti Valeria; Zeviani Massimo
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nature genetics 2006;38(5):570-5.
2006: Slonim Alfred E; Bulone Linda; Minikes Jennifer; Hays Arthur P; Shanske Sara; Tsujino Seiichi; DiMauro Salvatore
Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?
Muscle & nerve 2006;33(4):571-4.
2006: Shepherd R K; Checcarelli N; Naini A; De Vivo D C; DiMauro S; Sue C M
Measurement of ATP production in mitochondrial disorders.
Journal of inherited metabolic disease 2006;29(1):86-91.
2006: Kaufmann P; Engelstad K; Wei Y; Jhung S; Sano M C; Shungu D C; Millar W S; Hong X; Gooch C L; Mao X; Pascual J M; Hirano M; Stacpoole P W; DiMauro S; De Vivo D C
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
Neurology 2006;66(3):324-30.
2006: Tay Stacey H K; Nordli Douglas R; Bonilla Eduardo; Null Edward; Monaco Sara; Hirano Michio; DiMauro Salvatore
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
Archives of neurology 2006;63(2):281-3.
2006: Quinzii Catarina; Naini Ali; Salviati Leonardo; Trevisson Eva; Navas Placido; Dimauro Salvatore; Hirano Michio
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.
American journal of human genetics 2006;78(2):345-9.
2006: Horvath R; Schneiderat P; Schoser B G H; Gempel K; Neuen-Jacob E; Plöger H; Müller-Höcker J; Pongratz D E; Naini A; DiMauro S; Lochmüller H
Coenzyme Q10 deficiency and isolated myopathy.
Neurology 2006;66(2):253-5.
2005: Naidu SakkuBai; Bibat Genila; Lin Doris; Burger Peter; Barker Peter; Rosemberg Sergio; Braverman Nancy; Arroyo Hugo; Dowling Michael; Hamosh Ada; Kimonis Virginia; Blank Carol; Fiumara Agata; Facchini Sergio; Singhal Bhim; Moser Hugo; Kelley Richard; DiMauro Salvatore
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Annals of neurology 2005;58(6):929-38.
2005: Lamperti Costanza; Naini Ali B; Lucchini Valeria; Prelle Alessandro; Bresolin Nereo; Moggio Maurizio; Sciacco Monica; Kaufmann Petra; DiMauro Salvatore
Muscle coenzyme Q10 level in statin-related myopathy.
Archives of neurology 2005;62(11):1709-12.
2005: Sacconi Sabrina; Trevisson Eva; Pistollato Francesca; Baldoin Maria Cristina; Rezzonico Roger; Bourget Isabelle; Desnuelle Claude; Tenconi Romano; Basso Giuseppe; DiMauro Salvatore; Salviati Leonardo
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.
Biochemical and biophysical research communications 2005;337(3):832-9.
2005: Ubogu Eroboghene E; Hong Stacey Tay Kiat; Akman Hasan Orhan; Dimauro Salvatore; Katirji Bashar; Preston David C; Shapiro Barbara E
Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Muscle & nerve 2005;32(5):675-81.
2005: DiMauro Salvatore; Gurgel-Giannetti Juliana
The expanding phenotype of mitochondrial myopathy.
Current opinion in neurology 2005;18(5):538-42.
2005: Tay Stacey K H; Sacconi Sabrina; Akman H Ohran; Morales Judith F; Morales Augusto; De Vivo Darryl C; Shanske Sara; Bonilla Eduardo; DiMauro Salvatore
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
Journal of child neurology 2005;20(8):670-4.
2005: Rafay Mubeen F; Murphy E Gordon; McGarry J Denis; Kaufmann Petra; DiMauro Salvatore; Tein Ingrid
Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2005;32(3):316-20.
2005: Salviati L; Sacconi S; Murer L; Zacchello G; Franceschini L; Laverda A M; Basso G; Quinzii C; Angelini C; Hirano M; Naini A B; Navas P; DiMauro S; Montini G
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
Neurology 2005;65(4):606-8.
2005: Durham S E; Bonilla E; Samuels D C; DiMauro S; Chinnery P F
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
Neurology 2005;65(3):453-5.
2005: Chinnery Patrick F; DiMauro Salvatore
Mitochondrial hepatopathies.
Journal of hepatology 2005;43(2):207-9.
2005: Davidzon Guido; Mancuso Michelangelo; Ferraris Silvio; Quinzii Catarina; Hirano Michio; Peters Heidi L; Kirby Denise; Thorburn David R; DiMauro Salvatore
POLG mutations and Alpers syndrome.
Annals of neurology 2005;57(6):921-3.
2005: Hisama Fuki M; Mancuso Michelangelo; Filosto Massimiliano; DiMauro Salvatore
Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy.
American journal of medical genetics. Part A 2005;135(2):217-9.
2005: Mancuso Michelangelo; Ferraris Silvio; Pancrudo Jacklyn; Feigenbaum Annette; Raiman Julian; Christodoulou John; Thorburn David R; DiMauro Salvatore
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Archives of neurology 2005;62(5):745-7.
2005: Hirano Michio; DiMauro Salvatore
Leber hereditary optic neuropathy: biochemical lights in a blurry scenario.
Archives of neurology 2005;62(5):711-2.
2005: DiMauro Salvatore; Hirano Michio
Mitochondrial encephalomyopathies: an update.
Neuromuscular disorders : NMD 2005;15(4):276-86.
2005: Naini Ali B; Lu Jiesheng; Kaufmann Petra; Bernstein Richard A; Mancuso Michelangelo; Bonilla Eduardo; Hirano Michio; DiMauro Salvatore
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
Archives of neurology 2005;62(3):473-6.
2005: Tay Stacey K H; Shanske Sara; Crowe Carol; Shanske Alan; Schafer Irwin; Pancrudo Jacklyn; Lu Jiesheng; Bonilla Eduardo; DiMauro Salvatore
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
Journal of child neurology 2005;20(2):142-6.
2005: Quinzii C M; Kattah A G; Naini A; Akman H O; Mootha V K; DiMauro S; Hirano M
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Neurology 2005;64(3):539-41.
2005: Mancuso Michelangelo; Ferraris Silvio; Nishigaki Yutaka; Azan Gaetano; Mauro Alessandro; Sammarco Piero; Krishna Sindu; Tay Stacey K H; Bonilla Eduardo; Romansky Stephen G; Hirano Michio; DiMauro Salvatore
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
Journal of the neurological sciences 2005;228(1):93-7.
2005: Dimauro Salvatore; Davidzon Guido
Mitochondrial DNA and disease.
Annals of medicine 2005;37(3):222-32.
2004: Tay Stacey K H; Nesti Claudia; Mancuso Michelangelo; Schon Eric A; Shanske Sara; Bonilla Eduardo; Davidson Mercy M; Dimauro Salvatore
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Archives of neurology 2004;61(12):1935-7.
2004: Dimauro Salvatore
Mitochondrial medicine.
Biochimica et biophysica acta 2004;1659(2-3):107-14.
2004: Pallotti Francesco; Baracca Alessandra; Hernandez-Rosa Evelyn; Walker Winsome F; Solaini Giancarlo; Lenaz Giorgio; Melzi D'Eril Gian Vico; Dimauro Salvatore; Schon Eric A; Davidson Mercy M
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.
The Biochemical journal 2004;384(Pt 2):287-93.
2004: Mancuso Michelangelo; Filosto Massimiliano; Oh Shin J; DiMauro Salvatore
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
Archives of neurology 2004;61(11):1777-9.
2004: Shanske Sara; Pancrudo Jacklyn; Kaufmann Petra; Engelstad Kristin; Jhung Sarah; Lu Jiesheng; Naini Ali; DiMauro Salvatore; De Vivo Darryl C
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.
American journal of medical genetics. Part A 2004;130A(2):134-7.
2004: DiMauro Salvatore
The many faces of mitochondrial diseases.
Mitochondrion 2004;4(5-6):799-807.
2004: Bruno C; van Diggelen O P; Cassandrini D; Gimpelev M; Giuffrè B; Donati M A; Introvini P; Alegria A; Assereto S; Morandi L; Mora M; Tonoli E; Mascelli S; Traverso M; Pasquini E; Bado M; Vilarinho L; van Noort G; Mosca F; DiMauro S; Zara F; Minetti C
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Neurology 2004;63(6):1053-8.
2004: Chinnery Patrick F; DiMauro Salvatore; Shanske Sara; Schon Eric A; Zeviani Massimo; Mariotti Caterina; Carrara Fanco; Lombes Anne; Laforet Pascal; Ogier Helène; Jaksch Michaela; Lochmüller Hanns; Horvath Rita; Deschauer Marcus; Thorburn David R; Bindoff Laurence A; Poulton Joanna; Taylor Robert W; Matthews John N S; Turnbull Douglass M
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Filosto Massimiliano; Mancuso Michelangelo; Tomelleri Giuliano; Rizzuto Nicolo; Dalla Bernardina Bernardo; DiMauro Salvatore; Simonati Alessandro
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
Acta neuropathologica 2004;108(2):168-71.
2004: DiMauro Salvatore
Mitochondrial diseases.
Biochimica et biophysica acta 2004;1658(1-2):80-8.
2004: Salviati Leonardo; Freehauf Cindy; Sacconi Sabrina; DiMauro Salvatore; Thoma Janet; Tsai Anne Chun-Hui
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.
American journal of medical genetics. Part A 2004;128A(2):195-8.
2004: Rozen Todd D; Shanske Sara; Otaegui David; Lu Jiesheng; Young William B; Bradley Kathy; DiMauro Salvatore; Silberstein Stephen D
Study of mitochondrial DNA mutations in patients with migraine with prolonged aura.
Headache 2004;44(7):674-7.
2004: Tay Stacey K H; Shanske Sara; Kaplan Paige; DiMauro Salvatore
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
Archives of neurology 2004;61(6):950-2.
2004: Rundek Tatjana; Naini Ali; Sacco Ralph; Coates Kristen; DiMauro Salvatore
Atorvastatin decreases the coenzyme Q10 level in the blood of patients at risk for cardiovascular disease and stroke.
Archives of neurology 2004;61(6):889-92.
2004: Mancuso M; Filosto M; Mootha V K; Rocchi A; Pistolesi S; Murri L; DiMauro S; Siciliano G
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
Neurology 2004;62(11):2119-21.
2004: Mancuso M; Vives-Bauza C; Filosto M; Marti R; Solano A; Montoya J; Gamez J; DiMauro S; Andreu A L
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome.
Journal of medical genetics 2004;41(6):e73.
2004: Akman Cigdem Inan; Sue Carolyn M; Shanske Sara; Tanji Kurenai; Bonilla Eduardo; Ojaimi Joceline; Krishna Sindu; Schubert Romaine; DiMauro Salvatore
Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
Journal of child neurology 2004;19(4):258-61.
2004: Dimauro Salvatore; Mancuso Michelangelo; Naini Ali
Mitochondrial encephalomyopathies: therapeutic approach.
Annals of the New York Academy of Sciences 2004;1011():232-45.
2004: Dimauro Salvatore; Tay Stacey; Mancuso Michelangelo
Mitochondrial encephalomyopathies: diagnostic approach.
Annals of the New York Academy of Sciences 2004;1011():217-31.
2004: Kaufmann P; Shungu D C; Sano M C; Jhung S; Engelstad K; Mitsis E; Mao X; Shanske S; Hirano M; DiMauro S; De Vivo D C
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Neurology 2004;62(8):1297-302.
2004: Tay Stacey K H; Akman Hasan O; Chung Wendy K; Pike Michael G; Muntoni Francesco; Hays Arthur P; Shanske Sara; Valberg Stephanie J; Mickelson James R; Tanji Kurenai; DiMauro Salvatore
Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
Neuromuscular disorders : NMD 2004;14(4):253-60.
2004: Gironi M; Lamperti C; Nemni R; Moggio M; Comi G; Guerini F R; Ferrante P; Canal N; Naini A; Bresolin N; DiMauro S
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
Neurology 2004;62(5):818-20.
2004: Rabinowitz Simon S; Gelfond Daniel; Chen Chun-Kuo; Gloster Elizabeth S; Whitington Peter F; Sacconi Sabrina; Salviati Leonardo; DiMauro Salvatore
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.
Journal of pediatric gastroenterology and nutrition 2004;38(2):216-20.
2004: Mancuso M; Filosto M; Bellan M; Liguori R; Montagna P; Baruzzi A; DiMauro S; Carelli V
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
Neurology 2004;62(2):316-8.
2004: Pons Roser; Andreu Antoni L; Checcarelli Nicoletta; Vilà Maya R; Engelstad Kristin; Sue Carolyn M; Shungu Dikoma; Haggerty Rita; de Vivo Darryl C; DiMauro Salvatore
Mitochondrial DNA abnormalities and autistic spectrum disorders.
The Journal of pediatrics 2004;144(1):81-5.
2004: Venditti C P; Harris M C; Huff D; Peterside I; Munson D; Weber H S; Rome J; Kaye E M; Shanske S; Sacconi S; Tay S; DiMauro S; Berry G T
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Journal of inherited metabolic disease 2004;27(6):735-9.
2003: Andreu Antonio L; DiMauro Salvatore
Current classification of mitochondrial disorders.
Journal of neurology 2003;250(12):1403-6.
2003: Schlame Michael; Kelley Richard I; Feigenbaum Annette; Towbin Jeffrey A; Heerdt Paul M; Schieble Thomas; Wanders Ronald J A; DiMauro Salvatore; Blanck Thomas J J
Phospholipid abnormalities in children with Barth syndrome.
Journal of the American College of Cardiology 2003;42(11):1994-9.
2003: Schon Eric A; DiMauro Salvatore
Medicinal and genetic approaches to the treatment of mitochondrial disease.
Current medicinal chemistry 2003;10(23):2523-33.
2003: Mancuso Michelangelo; Filosto Massimiliano; Tsujino Seiichi; Lamperti Costanza; Shanske Sara; Coquet Michéle; Desnuelle Claude; DiMauro Salvatore
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Archives of neurology 2003;60(10):1445-7.
2003: Filosto Massimiliano; Mancuso Michelangelo; Vives-Bauza Cristofol; Vilà Maya R; Shanske Sara; Hirano Michio; Andreu Antoni L; DiMauro Salvatore
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
Annals of neurology 2003;54(4):524-6.
2003: Filosto Massimiliano; Mancuso Michelangelo; Nishigaki Yutaka; Pancrudo Jacklyn; Harati Yadollah; Gooch Clifton; Mankodi Ami; Bayne Lydia; Bonilla Eduardo; Shanske Sara; Hirano Michio; DiMauro Salvatore
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Archives of neurology 2003;60(9):1279-84.
2003: Mancuso Michelangelo; Filosto Massimiliano; Bonilla Eduardo; Hirano Michio; Shanske Sara; Vu Tuan H; DiMauro Salvatore
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: DiMauro Salvatore; Schon Eric A
Mitochondrial respiratory-chain diseases.
The New England journal of medicine 2003;348(26):2656-68.
2003: Butler Merlin G; Dasouki Majed; Bittel Doug; Hunter Susan; Naini Ali; DiMauro Salvatore
Coenzyme Q10 levels in Prader-Willi syndrome: comparison with obese and non-obese subjects.
American journal of medical genetics. Part A 2003;119A(2):168-71.
2003: Nishigaki Yutaka; Tadesse Saba; Bonilla Eduardo; Shungu Dikoma; Hersh Stephen; Keats Bronya J B; Berlin Charles I; Goldberg Morton F; Vockley Jerry; DiMauro Salvatore; Hirano Michio
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: Taylor Robert W; Giordano Carla; Davidson Mercy M; d'Amati Giulia; Bain Hugh; Hayes Christine M; Leonard Helen; Barron Martin J; Casali Carlo; Santorelli Filippo M; Hirano Michio; Lightowlers Robert N; DiMauro Salvatore; Turnbull Douglass M
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
Journal of the American College of Cardiology 2003;41(10):1786-96.
2003: Mancuso Michelangelo; Filosto Massimiliano; Stevens J Clarke; Patterson Marc; Shanske Sara; Krishna Sindu; DiMauro Salvatore
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene.
Journal of the neurological sciences 2003;209(1-2):61-3.
2003: Lamperti C; Naini A; Hirano M; De Vivo D C; Bertini E; Servidei S; Valeriani M; Lynch D; Banwell B; Berg M; Dubrovsky T; Chiriboga C; Angelini C; Pegoraro E; DiMauro S
Cerebellar ataxia and coenzyme Q10 deficiency.
Neurology 2003;60(7):1206-8.
2003: Vilà M R; Segovia-Silvestre T; Gámez J; Marina A; Naini A B; Meseguer A; Lombès A; Bonilla E; DiMauro S; Hirano M; Andreu A L
Reversion of mtDNA depletion in a patient with TK2 deficiency.
Neurology 2003;60(7):1203-5.
2003: Sacconi Sabrina; Salviati Leonardo; Sue Carolyn M; Shanske Sara; Davidson Mercy M; Bonilla Eduardo; Naini Ali B; De Vivo Darryl C; DiMauro Salvatore
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatric research 2003;53(2):224-30.
2003: Taivassalo Tanja; Jensen Tina Dysgaard; Kennaway Nancy; DiMauro Salvatore; Vissing John; Haller Ronald G
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients.
Brain : a journal of neurology 2003;126(Pt 2):413-23.
2003: Nasr Samih H; Corey Howard; Shanske Sara; Pancrudo Jacklyn; Kaufmann Petra; Markowitz Glen S; DiMauro Salvatore; D'Agati Vivette D
A 14-year-old male with asymptomatic proteinuria and hearing loss.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2003;41(1):259-64.
2003: Tanji Kurenai; Gamez Josep; Cervera Carles; Mearin Fermin; Ortega Arantxa; de la Torre Javier; Montoya Julio; Andreu Antoni L; DiMauro Salvatore; Bonilla Eduardo
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
Acta neuropathologica 2003;105(1):69-75.
2003: Naini Ali; Lewis Vernice-Jackson; Hirano Michio; DiMauro Salvatore
Primary coenzyme Q10 deficiency and the brain.
BioFactors (Oxford, England) 2003;18(1-4):145-52.
2002: DiMauro Salvatore; Andreu Antoni L; De Vivo Darryl C
Mitochondrial disorders.
Journal of child neurology 2002;17 Suppl 3():3S35-45; discussion 3S46-7.
2002: Van Maldergem Lionel; Trijbels Frans; DiMauro Salvatore; Sindelar Pavel J; Musumeci Olimpia; Janssen Antoon; Delberghe Xavier; Martin Jean-Jacques; Gillerot Yves
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
Annals of neurology 2002;52(6):750-4.
2002: Wortmann Robert L; DiMauro Salvatore
Differentiating idiopathic inflammatory myopathies from metabolic myopathies.
Rheumatic diseases clinics of North America 2002;28(4):759-78.
2002: DiMauro Salvatore; Tanji Kurenai; Bonilla Eduardo; Pallotti Francesco; Schon Eric A
Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.
Muscle & nerve 2002;26(5):597-607.
2002: Karadimas Charalampos L; Salviati Leonardo; Sacconi Sabrina; Chronopoulou Penelope; Shanske Sara; Bonilla Eduardo; De Vivo Darryl C; DiMauro Salvatore
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
Neuromuscular disorders : NMD 2002;12(9):865-8.
2002: Hadjigeorgiou Georgios M; Sadeh Menachem; Musumeci Olimpia; Dabby Ron; De Girolami Laura; Naini Ali; Papadimitriou Alexandros; Shanske Sara; DiMauro Salvatore
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
Neuromuscular disorders : NMD 2002;12(9):824-7.
2002: Mancuso M; Salviati L; Sacconi S; Otaegui D; Camaño P; Marina A; Bacman S; Moraes C T; Carlo J R; Garcia M; Garcia-Alvarez M; Monzon L; Naini A B; Hirano M; Bonilla E; Taratuto A L; DiMauro S; Vu T H
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Neurology 2002;59(8):1197-202.
2002: 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
Mitochondrial DNA depletion and dGK gene mutations.
Annals of neurology 2002;52(3):311-7.
2002: Shanske Sara; Tang Yingying; Hirano Michio; Nishigaki Yutaka; Tanji Kurenai; Bonilla Eduardo; Sue Carolyn; Krishna Sindu; Carlo Jose R; Willner Judith; Schon Eric A; DiMauro Salvatore
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: Vu Tuan H; Hirano Michio; DiMauro Salvatore
Mitochondrial diseases.
Neurologic clinics 2002;20(3):809-39, vii-viii.
2002: Kiejna Andrzej; DiMauro Salvatore; Adamowski Tomasz; Rymaszewska Joanna; Leszek Jerzy; Pachalska Maria
Psychiatric symptoms in a patient with the clinical features of MELAS.
Medical science monitor : international medical journal of experimental and clinical research 2002;8(7):CS66-72.
2002: Sacconi Sabrina; Salviati Leonardo; Gooch Clifton; Bonilla Eduardo; Shanske Sara; DiMauro Salvatore
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Archives of neurology 2002;59(6):1013-5.
2002: Schlame Michael; Towbin Jeffrey A; Heerdt Paul M; Jehle Roswitha; DiMauro Salvatore; Blanck Thomas J J
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Annals of neurology 2002;51(5):634-7.
2002: Salviati Leonardo; Sacconi Sabrina; Rasalan Minerva M; Kronn David F; Braun Alex; Canoll Peter; Davidson Mercy; Shanske Sara; Bonilla Eduardo; Hays Arthur P; Schon Eric A; DiMauro Salvatore
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Archives of neurology 2002;59(5):862-5.
2002: Giordano Carla; Pallotti Francesco; Walker Winsome F; Checcarelli Nicoletta; Musumeci Olimpia; Santorelli Filippo; d'Amati Giulia; Schon Eric A; DiMauro Salvatore; Hirano Michio; Davidson Mercy M
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.
Biochemical and biophysical research communications 2002;293(1):521-9.
2002: Nishigaki Y; Bonilla E; Shanske S; Gaskin D A; DiMauro S; Hirano M
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
Neurology 2002;58(8):1282-5.
2002: Salviati Leonardo; Hernandez-Rosa Evelyn; Walker Winsome F; Sacconi Sabrina; DiMauro Salvatore; Schon Eric A; Davidson Mercy M
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.
The Biochemical journal 2002;363(Pt 2):321-7.
2002: Pachalska Maria; DiMauro Salvatore; Forminska-Kapuscik Maria; Kurzbauer Henryk; Talar Jan; MacQueen Bruce Duncan; Pawlicka Iwona; Jelenska-Szygula Irena
The course of vision disturbances in a patient with the MELAS syndrome.
Medical science monitor : international medical journal of experimental and clinical research 2002;8(2):CS11-20.
2002: Hadjigeorgiou Georgios M; Papadimitriou Alexandros; Musumeci Olimpia; Paterakis Konstantinos; Flabouriari Konstantina; Shanske Sara; DiMauro Salvatore
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
Journal of the neurological sciences 2002;194(1):83-6.
2002: DiMauro Salvatore; Hirano Michio; Kaufmann Petra; Tanji Kurenai; Sano Mary; Shungu Dikoma C; Bonilla Eduardo; DeVivo Darryl C
Clinical features and genetics of myoclonic epilepsy with ragged red fibers.
Advances in neurology 2002;89():217-29.
2002: Hirano Michio; DiMauro Salvatore
Metabolic myopathies.
Advances in neurology 2002;88():217-34.
2001: DiMauro S
Lessons from mitochondrial DNA mutations.
Seminars in cell & developmental biology 2001;12(6):397-405.
2001: DiMauro S; Andreu A L
Mutations in mitochondrial DNA as a cause of exercise intolerance.
Annals of medicine 2001;33(7):472-6.
2001: DiMauro S; Andreu A L; Musumeci O; Bonilla E
Diseases of oxidative phosphorylation due to mtDNA mutations.
Seminars in neurology 2001;21(3):251-60.
2001: Taivassalo T; Shoubridge E A; Chen J; Kennaway N G; DiMauro S; Arnold D L; Haller R G
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects.
Annals of neurology 2001;50(2):133-41.
2001: DiMauro S; Lamperti C
Muscle glycogenoses.
Muscle & nerve 2001;24(8):984-99.
2001: Pachalska M; DiMauro S; MacQueen B D; Tlokinski W; Jelenska-Szygula I
[Pathomechanism and clinical presentation of neurobehavioral disturbances in a patient with MELAS syndrome]
Neurologia i neurochirurgia polska 2001;35(4):681-93.
2001: Karadimas C; Tanji K; Geremek M; Chronopoulou P; Vu T; Krishna S; Sue C M; Shanske S; Bonilla E; DiMauro S; Lipson M; Bachman R
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
Journal of child neurology 2001;16(7):531-3.
2001: Vu T H; Hays A P; Tanji K; Younger D; Gundersen G G; Eastwood A; Braun C W; DiMauro S; Bonilla E
Myopathy with tubulin-reactive crystalline inclusions.
Neurology 2001;57(1):149-52.
2001: Vu T H; Tanji K; Holve S A; Bonilla E; Sokol R J; Snyder R D; Fiore S; Deutsch G H; Dimauro S; De Vivo D
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
Hepatology (Baltimore, Md.) 2001;34(1):116-20.
2001: Raben N; Danon M; Lu N; Lee E; Shliselfeld L; Skurat A V; Roach P J; Lawrence J C; Musumeci O; Shanske S; DiMauro S; Plotz P
Surprises of genetic engineering: a possible model of polyglucosan body disease.
Neurology 2001;56(12):1739-45.
2001: Hirano M; Davidson M; DiMauro S
Mitochondria and the heart.
Current opinion in cardiology 2001;16(3):201-10.
2001: DiMauro S
Ottorino Rossi Award 2001. Mitochondrial DNA: a genetic Pandora's box.
Functional neurology 2001;16(2):103-16.
2001: Musumeci O; Naini A; Slonim A E; Skavin N; Hadjigeorgiou G L; Krawiecki N; Weissman B M; Tsao C Y; Mendell J R; Shanske S; De Vivo D C; Hirano M; DiMauro S
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
Neurology 2001;56(7):849-55.
2001: Gamez J; Navarro C; Andreu A L; Fernandez J M; Palenzuela L; Tejeira S; Fernandez-Hojas R; Schwartz S; Karadimas C; DiMauro S; Hirano M; Cervera C
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.
Neurology 2001;56(4):450-4.
2001: DiMauro S; Schon E A
Mitochondrial DNA mutations in human disease.
American journal of medical genetics 2001;106(1):18-26.
2000: Shtilbans A; Shanske S; Goodman S; Sue C M; Bruno C; Johnson T L; Lava N S; Waheed N; DiMauro S
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
Journal of child neurology 2000;15(11):759-61.
2000: Tanji K; Schon E A; DiMauro S; Bonilla E
Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium.
Journal of the neurological sciences 2000;178(1):29-36.
2000: Karadimas C L; Greenstein P; Sue C M; Joseph J T; Tanji K; Haller R G; Taivassalo T; Davidson M M; Shanske S; Bonilla E; DiMauro S
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
Neurology 2000;55(5):644-9.
2000: Andreu A L; Checcarelli N; Iwata S; Shanske S; DiMauro S
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
Pediatric research 2000;48(3):311-4.
2000: DiMauro S; Andreu A L
Mutations in mtDNA: are we scraping the bottom of the barrel?
Brain pathology (Zurich, Switzerland) 2000;10(3):431-41.
2000: DiMauro S
Introduction: mitochondrial encephalomyopathies.
Brain pathology (Zurich, Switzerland) 2000;10(3):419-21.
2000: Bruno C; Bado M; Minetti C; Cordone G; DiMauro S
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
Journal of child neurology 2000;15(6):390-3.
2000: Nishino I; Spinazzola A; Papadimitriou A; Hammans S; Steiner I; Hahn C D; Connolly A M; Verloes A; Guimarães J; Maillard I; Hamano H; Donati M A; Semrad C E; Russell J A; Andreu A L; Hadjigeorgiou G M; Vu T H; Tadesse S; Nygaard T G; Nonaka I; Hirano I; Bonilla E; Rowland L P; DiMauro S; Hirano M
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology 2000;47(6):792-800.
2000: Musumeci O; Andreu A L; Shanske S; Bresolin N; Comi G P; Rothstein R; Schon E A; DiMauro S
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
American journal of human genetics 2000;66(6):1900-4.
2000: Sue C M; Karadimas C; Checcarelli N; Tanji K; Papadopoulou L C; Pallotti F; Guo F L; Shanske S; Hirano M; De Vivo D C; Van Coster R; Kaplan P; Bonilla E; DiMauro S
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Annals of neurology 2000;47(5):589-95.
2000: Bruno C; Bertini E; Santorelli F M; DiMauro S
HyperCKemia as the only sign of McArdle's disease in a child.
Journal of child neurology 2000;15(2):137-8.
2000: Fernández R; Navarro C; Andreu A L; Bruno C; Shanske S; Gámez J; Teijeira S; Hernández I; Teijeiro A; Fernández J M; Musumeci O; DiMauro S
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
Archives of neurology 2000;57(2):217-9.
2000: Vu T H; Tanji K; Pallotti F; Golzi V; Hirano M; DiMauro S; Bonilla E
Analysis of mtDNA deletions in muscle by in situ hybridization.
Muscle & nerve 2000;23(1):80-5.
2000: DiMauro S; Hirano M; Schon E A
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.
1999: DiMauro S
Exercise intolerance and the mitochondrial respiratory chain.
Italian journal of neurological sciences 1999;20(6):387-93.
1999: DiMauro S; Bonilla E; De Vivo D C
Does the patient have a mitochondrial encephalomyopathy?
Journal of child neurology 1999;14 Suppl 1():S23-35.
1999: Papadopoulou L C; Sue C M; Davidson M M; Tanji K; Nishino I; Sadlock J E; Krishna S; Walker W; Selby J; Glerum D M; Coster R V; Lyon G; Scalais E; Lebel R; Kaplan P; Shanske S; De Vivo D C; Bonilla E; Hirano M; DiMauro S; Schon E A
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics 1999;23(3):333-7.
1999: Bruno C; DiRocco M; Lamba L D; Bado M; Marino C; Tsujino S; Shanske S; Stella G; Minetti C; van Diggelen O P; DiMauro S
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Neuromuscular disorders : NMD 1999;9(6-7):403-7.
1999: Hadjigeorgiou G M; Kawashima N; Bruno C; Andreu A L; Sue C M; Rigden D J; Kawashima A; Shanske S; DiMauro S
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
Neuromuscular disorders : NMD 1999;9(6-7):399-402.
1999: Andreu A L; Hanna M G; Reichmann H; Bruno C; Penn A S; Tanji K; Pallotti F; Iwata S; Bonilla E; Lach B; Morgan-Hughes J; DiMauro S
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
The New England journal of medicine 1999;341(14):1037-44.
1999: Shtilbans A; El-Schahawi M; Malkin E; Shanske S; Musumeci O; DiMauro S
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.
Journal of child neurology 1999;14(9):610-3.
1999: Schlame M; Shanske S; Doty S; König T; Sculco T; DiMauro S; Blanck T J
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease.
Journal of lipid research 1999;40(9):1585-92.
1999: Bruno C; Martinuzzi A; Tang Y; Andreu A L; Pallotti F; Bonilla E; Shanske S; Fu J; Sue C M; Angelini C; DiMauro S; Manfredi G
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
American journal of human genetics 1999;65(3):611-20.
1999: Tanji K; DiMauro S; Bonilla E
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome.
Journal of the neurological sciences 1999;166(1):64-70.
1999: Bruno C; Löfberg M; Tamburino L; Jänkälä H; Hadjigeorgiou G M; Andreu A L; Shanske S; Somer H; DiMauro S
Molecular characterization of McArdle's disease in two large Finnish families.
Journal of the neurological sciences 1999;165(2):121-5.
1999: Sue C M; Tanji K; Hadjigeorgiou G; Andreu A L; Nishino I; Krishna S; Bruno C; Hirano M; Shanske S; Bonilla E; Fischel-Ghodsian N; DiMauro S; Friedman R
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: Andreu A L; Tanji K; Bruno C; Hadjigeorgiou G M; Sue C M; Jay C; Ohnishi T; Shanske S; Bonilla E; DiMauro S
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Annals of neurology 1999;45(6):820-3.
1999: Sue C M; Bruno C; Andreu A L; Cargan A; Mendell J R; Tsao C Y; Luquette M; Paolicchi J; Shanske S; DiMauro S; De Vivo D C
Infantile encephalopathy associated with the MELAS A3243G mutation.
The Journal of pediatrics 1999;134(6):696-700.
1999: Andreu A L; Bruno C; Tamburino L; Gamez J; Shanske S; Cervera C; Navarro C; DiMauro S
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(3):171-3.
1999: Andreu A L; Bruno C; Hadjigeorgiou G M; Shanske S; DiMauro S
Polymorphic variants in the human mitochondrial cytochrome b gene.
Molecular genetics and metabolism 1999;67(1):49-52.
1999: Hadjigeorgiou G M; Kim S H; Fischbeck K H; Andreu A L; Berry G T; Bingham P; Shanske S; Bonilla E; DiMauro S
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.
Journal of the neurological sciences 1999;164(2):153-7.
1999: Sue C M; Hirano M; DiMauro S; De Vivo D C
Neonatal presentations of mitochondrial metabolic disorders.
Seminars in perinatology 1999;23(2):113-24.
1999: Damore M E; Speiser P W; Slonim A E; New M I; Shanske S; Xia W; Santorelli F M; DiMauro S
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.
Journal of pediatric endocrinology & metabolism : JPEM 1999;12(2):207-13.
1999: Tanji K; Vu T H; Schon E A; DiMauro S; Bonilla E
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.
Annals of neurology 1999;45(3):377-83.
1999: Bonilla E; Tanji K; Hirano M; Vu T H; DiMauro S; Schon E A
Mitochondrial involvement in Alzheimer's disease.
Biochimica et biophysica acta 1999;1410(2):171-82.
1999: DiMauro S; Andreu A L; Bonilla E
[Mitochondrial encephalopathies: where are we going?]
Revista de neurologia 1999;28(2):164-8.
1999: Bruno C; Tamburino L; Kawashima N; Andreu A L; Shanske S; Hadjigeorgiou G M; Kawashima A; DiMauro S
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(1):34-7.
1999: Andreu A L; Bruno C; Dunne T C; Tanji K; Shanske S; Sue C M; Krishna S; Hadjigeorgiou G M; Shtilbans A; Bonilla E; DiMauro S
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
Annals of neurology 1999;45(1):127-30.
1999: DiMauro S; Kulikova R; Tanji K; Bonilla E; Hirano M
Mitochondrial genes for generalized epilepsies.
Advances in neurology 1999;79():411-9.
1998: Vázquez-Memije M E; Shanske S; Santorelli F M; Kranz-Eble P; DeVivo D C; DiMauro S
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations.
Journal of inherited metabolic disease 1998;21(8):829-36.
1998: Santorelli F M; Tanji K; Shanske S; Krishna S; Schmidt R E; Greenwood R S; DiMauro S; De Vivo D C
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.
Annals of neurology 1998;44(6):962-4.
1998: Andreu A L; Bruno C; Shanske S; Shtilbans A; Hirano M; Krishna S; Hayward L; Systrom D S; Brown R H; DiMauro S
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Neurology 1998;51(5):1444-7.
1998: Sciacco M; Gasparo-Rippa P; Vu T H; Tanji K; Shanske S; Mendell J R; Schon E A; DiMauro S; Bonilla E
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Muscle & nerve 1998;21(11):1374-81.
1998: DiMauro S; Bruno C
Glycogen storage diseases of muscle.
Current opinion in neurology 1998;11(5):477-84.
1998: Gospe S M; El-Schahawi M; Shanske S; Bruno C; DiMauro S; Hoye E; Walsh D A; Gorin F A
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
Neurology 1998;51(4):1228-9.
1998: Vu T H; Tanji K; Valsamis H; DiMauro S; Bonilla E
Mitochondrial DNA depletion in a patient with long survival.
Neurology 1998;51(4):1190-3.
1998: Bruno C; Manfredi G; Andreu A L; Shanske S; Krishna S; Ilse W K; DiMauro S
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
Biochemical and biophysical research communications 1998;249(3):648-51.
1998: DiMauro S; Bonilla E; Davidson M; Hirano M; Schon E A
Mitochondria in neuromuscular disorders.
Biochimica et biophysica acta 1998;1366(1-2):199-210.
1998: Hirano M; Garcia-de-Yebenes J; Jones A C; Nishino I; DiMauro S; Carlo J R; Bender A N; Hahn A F; Salberg L M; Weeks D E; Nygaard T G
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
American journal of human genetics 1998;63(2):526-33.
1998: Andreu A L; Bruno C; Gamez J; Shanske S; Cervera C; Navarro C; Arbos M A; Tamburino L; Schwartz S; DiMauro S
Molecular genetic analysis of McArdle's disease in Spanish patients.
Neurology 1998;51(1):260-2.
1998: Vu T H; Sciacco M; Tanji K; Nichter C; Bonilla E; Chatkupt S; Maertens P; Shanske S; Mendell J; Koenigsberger M R; Sharer L; Schon E A; DiMauro S; DeVivo D C
Clinical manifestations of mitochondrial DNA depletion.
Neurology 1998;50(6):1783-90.
1998: DiMauro S; Hirano M
Mitochondria and heart disease.
Current opinion in cardiology 1998;13(3):190-7.
1998: Bruno C; Minetti C; Tang Y; Magalhães P J; Santorelli F M; Shanske S; Bado M; Cordone G; Gatti R; DiMauro S
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
1998: Bruno C; Minetti C; Shanske S; Morreale G; Bado M; Cordone G; DiMauro S
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology 1998;50(1):296-8.
1998: Carrozzo R; Hirano M; Fromenty B; Casali C; Santorelli F M; Bonilla E; DiMauro S; Schon E A; Miranda A F
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
Neurology 1998;50(1):99-106.
1997: DiMauro S; Tanji K
Mitochondrial disorders.
The Japanese journal of human genetics 1997;42(4):473-87.
1997: Hirano M; Shtilbans A; Mayeux R; Davidson M M; DiMauro S; Knowles J A; Schon E A
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: Shanske S; DiMauro S
Diagnosis of the mitochondrial encephalomyopathies.
Current opinion in rheumatology 1997;9(6):496-503.
1997: Pons R; Carrozzo R; Tein I; Walker W F; Addonizio L J; Rhead W; Miranda A F; Dimauro S; De Vivo D C
Deficient muscle carnitine transport in primary carnitine deficiency.
Pediatric research 1997;42(5):583-7.
1997: Kaufmann P; el-Schahawi M; DiMauro S
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.
Molecular and cellular biochemistry 1997;174(1-2):237-9.
1997: Santorelli F M; Tanji K; Kulikova R; Shanske S; Vilarinho L; Hays A P; DiMauro S
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
Biochemical and biophysical research communications 1997;238(2):326-8.
1997: Santorelli F M; Tanji K; Sano M; Shanske S; El-Shahawi M; Kranz-Eble P; DiMauro S; De Vivo D C
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
Annals of neurology 1997;42(2):256-60.
1997: Manfredi G; Vu T; Bonilla E; Schon E A; DiMauro S; Arnaudo E; Zhang L; Rowland L P; Hirano M
Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?
Annals of neurology 1997;42(2):180-8.
1997: Santorelli F M; Tanji K; Shanske S; DiMauro S
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Neurology 1997;49(1):270-3.
1997: Santorelli F M; Siciliano G; Casali C; Basirico M G; Carrozzo R; Calvosa F; Sartucci F; Bonfiglio L; Murri L; DiMauro S
Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
Neuromuscular disorders : NMD 1997;7(3):156-9.
1997: Sobreira C; Hirano M; Shanske S; Keller R K; Haller R G; Davidson E; Santorelli F M; Miranda A F; Bonilla E; Mojon D S; Barreira A A; King M P; DiMauro S
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
Neurology 1997;48(5):1238-43.
1997: Schon E A; Bonilla E; DiMauro S
Mitochondrial DNA mutations and pathogenesis.
Journal of bioenergetics and biomembranes 1997;29(2):131-49.
1997: el-Schahawi M; Bruno C; Tsujino S; Sarrazin A M; Shanske S; LeRoux M G; DiMauro S
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.
Neuromuscular disorders : NMD 1997;7(2):81-3.
1997: el-Schahawi M; López de Munain A; Sarrazin A M; Shanske A L; Basirico M; Shanske S; DiMauro S
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.
Neurology 1997;48(2):453-6.
1996: Santorelli F M; Barmada M A; Pons R; Zhang L L; DiMauro S
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion.
Neurology 1996;47(5):1320-3.
1996: Pons R; Andreetta F; Wang C H; Vu T H; Bonilla E; DiMauro S; De Vivo D C
Mitochondrial myopathy simulating spinal muscular atrophy.
Pediatric neurology 1996;15(2):153-8.
1996: Santorelli F M; Schlessel J S; Slonim A E; DiMauro S
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.
Pediatric neurology 1996;15(2):145-9.
1996: Kaufmann P; Koga Y; Shanske S; Hirano M; DiMauro S; King M P; Schon E A
Mitochondrial DNA and RNA processing in MELAS.
Annals of neurology 1996;40(2):172-80.
1996: el-Schahawi M; Tsujino S; Shanske S; DiMauro S
Diagnosis of McArdle's disease by molecular genetic analysis of blood.
Neurology 1996;47(2):579-80.
1996: Santorelli F M; Sciacco M; Tanji K; Shanske S; Vu T H; Golzi V; Griggs R C; Mendell J R; Hays A P; Bertorini T E; Pestronk A; Bonilla E; DiMauro S
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
Annals of neurology 1996;39(6):789-95.
1996: Santorelli F M; Mak S C; Vazquez-Memije M E; Shanske S; Kranz-Eble P; Jain K D; Bluestone D L; De Vivo D C; DiMauro S
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Pediatric research 1996;39(5):914-7.
1996: Santorelli F M; Mak S C; El-Schahawi M; Casali C; Shanske S; Baram T Z; Madrid R E; DiMauro S
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
American journal of human genetics 1996;58(5):933-9.
1996: Tsujino S; Shanske S; Valberg S J; Cardinet G H; Smith B P; DiMauro S
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.
Neuromuscular disorders : NMD 1996;6(1):19-26.
1996: DiMauro S
Mitochondrial encephalomyopathies: what next?
Journal of inherited metabolic disease 1996;19(4):489-503.
1996: Vazquez-Memije M E; Shanske S; Santorelli F M; Kranz-Eble P; Davidson E; DeVivo D C; DiMauro S
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Journal of inherited metabolic disease 1996;19(1):43-50.
1996: Manfredi G; Schon E A; Bonilla E; Moraes C T; Shanske S; DiMauro S
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
Human mutation 1996;7(2):158-63.
1995: Santorelli F M; Mak S C; Vàzquez-Acevedo M; González-Astiazarán A; Ridaura-Sanz C; González-Halphen D; DiMauro S
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.
Biochemical and biophysical research communications 1995;216(3):835-40.
1995: Thyagarajan D; Shanske S; Vazquez-Memije M; De Vivo D; DiMauro S
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
Annals of neurology 1995;38(3):468-72.
1995: Manfredi G; Schon E A; Moraes C T; Bonilla E; Berry G T; Sladky J T; DiMauro S
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
Neuromuscular disorders : NMD 1995;5(5):391-8.
1995: Angelos S; Valberg S J; Smith B P; McQuarrie P S; Shanske S; Tsujino S; DiMauro S; Cardinet G H
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle.
Muscle & nerve 1995;18(7):736-40.
1995: Tsujino S; Shanske S; Carroll J E; Sabina R L; DiMauro S
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.
Neuromuscular disorders : NMD 1995;5(4):263-6.
1995: Hao H; Bonilla E; Manfredi G; DiMauro S; Moraes C T
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
American journal of human genetics 1995;56(5):1017-25.
1995: Manfredi G; Servidei S; Bonilla E; Shanske S; Schon E A; DiMauro S; Moraes C T
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.
Neurology 1995;45(4):762-8.
1995: Sparaco M; Schon E A; DiMauro S; Bonilla E
Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain.
Brain pathology (Zurich, Switzerland) 1995;5(2):125-33.
1995: Tsujino S; Shanske S; Martinuzzi A; Heiman-Patterson T; DiMauro S
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Human mutation 1995;6(3):276-7.
1995: Tsujino S; Shanske S; Sakoda S; Toscano A; DiMauro S
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve 1995;3():S50-3.
1995: Tsujino S; Shanske S; DiMauro S
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve 1995;3():S45-9.
1995: Tsujino S; Shanske S; Nonaka I; DiMauro S
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve 1995;3():S23-7.
1995: Moraes C T; Sciacco M; Ricci E; Tengan C H; Hao H; Bonilla E; Schon E A; DiMauro S
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve 1995;3():S150-3.
1995: DiMauro S; Tsujino S; Shanske S; Rowland L P
Biochemistry and molecular genetics of human glycogenoses: an overview.
Muscle & nerve 1995;3():S10-7.
1994: Tsujino S; Shanske S; Brownell A K; Haller R G; DiMauro S
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
Annals of neurology 1994;36(4):661-5.
1994: Schon E A; Hirano M; DiMauro S
Mitochondrial encephalomyopathies: clinical and molecular analysis.
Journal of bioenergetics and biomembranes 1994;26(3):291-9.
1994: Tsujino S; Shanske S; Goto Y; Nonaka I; DiMauro S
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
Human molecular genetics 1994;3(6):1005-6.
1994: Santorelli F M; Shanske S; Jain K D; Tick D; Schon E A; DiMauro S
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Neurology 1994;44(5):972-4.
1994: Szabolcs M J; Seigle R; Shanske S; Bonilla E; DiMauro S; D'Agati V
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy.
Kidney international 1994;45(5):1388-96.
1994: Tsujino S; Servidei S; Tonin P; Shanske S; Azan G; DiMauro S
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
American journal of human genetics 1994;54(5):812-9.
1994: Wilkinson D A; Tonin P; Shanske S; Lombes A; Carlson G M; DiMauro S
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.
Neurology 1994;44(3 Pt 1):461-6.
1994: Tsujino S; Tonin P; Shanske S; Nohria V; Boustany R M; Lewis D; Chen Y T; DiMauro S
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
Annals of neurology 1994;35(3):349-53.
1994: Valberg S J; Carlson G P; Cardinet G H; Birks E K; Jones J H; Chomyn A; DiMauro S
Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse.
Muscle & nerve 1994;17(3):305-12.
1994: Petruzzella V; Moraes C T; Sano M C; Bonilla E; DiMauro S; Schon E A
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
Human molecular genetics 1994;3(3):449-54.
1994: Tsujino S; Shanske S; Nonaka I; Eto Y; Mendell J R; Fenichel G M; DiMauro S
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
American journal of human genetics 1994;54(1):44-52.
1994: Sciacco M; Bonilla E; Schon E A; DiMauro S; Moraes C T
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.
Human molecular genetics 1994;3(1):13-9.
1994: Tsujino S; Rubin L A; Shanske S; DiMauro S
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
Human mutation 1994;4(1):73-5.
1994: Silvestri G; Santorelli F M; Shanske S; Whitley C B; Schimmenti L A; Smith S A; DiMauro S
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
Human mutation 1994;3(1):37-43.
1993: Moraes C T; Ciacci F; Bonilla E; Jansen C; Hirano M; Rao N; Lovelace R E; Rowland L P; Schon E A; DiMauro S
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: Santorelli F M; Shanske S; Macaya A; DeVivo D C; DiMauro S
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
Annals of neurology 1993;34(6):827-34.
1993: DiMauro S; Moraes C T
Mitochondrial encephalomyopathies.
Archives of neurology 1993;50(11):1197-208.
1993: Sparaco M; Hirano A; Hirano M; DiMauro S; Bonilla E
Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study.
Brain pathology (Zurich, Switzerland) 1993;3(4):349-54.
1993: Minetti C; Tanji K; Chang H W; Medori R; Cordone G; DiMauro S; Bonilla E
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.
European journal of pediatrics 1993;152(10):848-51.
1993: Tsujino S; Shanske S; DiMauro S
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
The New England journal of medicine 1993;329(4):241-5.
1993: Moraes C T; Ciacci F; Bonilla E; Ionasescu V; Schon E A; DiMauro S
A mitochondrial tRNA anticodon swap associated with a muscle disease.
Nature genetics 1993;4(3):284-8.
1993: Silvestri G; Ciafaloni E; Santorelli F M; Shanske S; Servidei S; Graf W D; Sumi M; DiMauro S
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
Neurology 1993;43(6):1200-6.
1993: McDonald T D; Faust P L; Bruno C; DiMauro S; Goldman J E
Polyglucosan body disease simulating amyotrophic lateral sclerosis.
Neurology 1993;43(4):785-90.
1993: Tsujino S; Shanske S; Sakoda S; Fenichel G; DiMauro S
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
American journal of human genetics 1993;52(3):472-7.
1993: Ciafaloni E; Santorelli F M; Shanske S; Deonna T; Roulet E; Janzer C; Pescia G; DiMauro S
Maternally inherited Leigh syndrome.
The Journal of pediatrics 1993;122(3):419-22.
1993: Tonin P; Shanske S; Miranda A F; Brownell A K; Wyse J P; Tsujino S; DiMauro S
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
Neurology 1993;43(2):387-91.
1993: Sparaco M; Bonilla E; DiMauro S; Powers J M
Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.
Journal of neuropathology and experimental neurology 1993;52(1):1-10.
1993: Moraes C T; Ciacci F; Silvestri G; Shanske S; Sciacco M; Hirano M; Schon E A; Bonilla E; DiMauro S
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.
Neuromuscular disorders : NMD 1993;3(1):43-50.
1993: Sparaco M; Rosoklija G; Tanji K; Sciacco M; Latov N; DiMauro S; Bonilla E
Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies.
Neuromuscular disorders : NMD 1993;3(1):71-6.
1993: DiMauro S; Simonetti S; Chen X; Petruzzella V; Hirano M; Shanske S; Moraes C T; Schon E A
Mitochondrial dysfunction as a mechanism of CNS injury.
Research publications - Association for Research in Nervous and Mental Disease 1993;71():67-79.
1992: Simonetti S; Chen X; DiMauro S; Schon E A
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR.
Biochimica et biophysica acta 1992;1180(2):113-22.
1992: Silvestri G; Moraes C T; Shanske S; Oh S J; DiMauro S
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
American journal of human genetics 1992;51(6):1213-7.
1992: Suomalainen A; Ciafaloni E; Koga Y; Peltonen L; DiMauro S; Schon E A
Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.
Journal of the neurological sciences 1992;111(2):222-6.
1992: Moraes C T; Ricci E; Petruzzella V; Shanske S; DiMauro S; Schon E A; Bonilla E
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nature genetics 1992;1(5):359-67.
1992: Moraes C T; Ricci E; Bonilla E; DiMauro S; Schon E A
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
American journal of human genetics 1992;50(5):934-49.
1992: DiMauro S
Mitochondrial encephalomyopathies.
Brain pathology (Zurich, Switzerland) 1992;2(2):111-2.
1992: Hirano M; Ricci E; Koenigsberger M R; Defendini R; Pavlakis S G; DeVivo D C; DiMauro S; Rowland L P
Melas: an original case and clinical criteria for diagnosis.
Neuromuscular disorders : NMD 1992;2(2):125-35.
1992: Valberg S J; Cardinet G H; Carlson G P; DiMauro S
Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses.
Neuromuscular disorders : NMD 1992;2(5-6):351-9.
1991: Moraes C T; Zeviani M; Schon E A; Hickman R O; Vlcek B W; DiMauro S
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
American journal of medical genetics 1991;41(3):301-5.
1991: Ciafaloni E; Ricci E; Servidei S; Shanske S; Silvestri G; Manfredi G; Schon E A; DiMauro S
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.
Neurology 1991;41(10):1663-4.
1991: Andreetta F; Tritschler H J; Schon E A; DiMauro S; Bonilla E
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies.
Journal of the neurological sciences 1991;105(1):88-92.
1991: Zupanc M L; Moraes C T; Shanske S; Langman C B; Ciafaloni E; DiMauro S
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.
Annals of neurology 1991;29(6):680-3.
1991: Lombes A; Nakase H; Tritschler H J; Kadenbach B; Bonilla E; DeVivo D C; Schon E A; DiMauro S
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
Neurology 1991;41(4):491-8.
1991: Moraes C T; Shanske S; Tritschler H J; Aprille J R; Andreetta F; Bonilla E; Schon E A; DiMauro S
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
American journal of human genetics 1991;48(3):492-501.
1991: Moraes C T; Andreetta F; Bonilla E; Shanske S; DiMauro S; Schon E A
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
Molecular and cellular biology 1991;11(3):1631-7.
1991: Arnaudo E; Dalakas M; Shanske S; Moraes C T; DiMauro S; Schon E A
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.
Lancet 1991;337(8740):508-10.
1991: Tritschler H J; Bonilla E; Lombes A; Andreetta F; Servidei S; Schneyder B; Miranda A F; Schon E A; Kadenbach B; DiMauro S
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.
Neurology 1991;41(2 ( Pt 1)):300-5.
1991: Dimauro S; Moraes C T; Shanske S; Lombes A; Nakase H; Mita S; Tritschler H J; Bonilla E; Miranda A F; Schon E A
Mitochondrial encephalomyopathies: biochemical approach.
Revue neurologique 1991;147(6-7):443-9.
1990: DiMauro S; Lombes A; Nakase H; Mita S; Fabrizi G M; Tritschler H J; Bonilla E; Miranda A F; DeVivo D C; Schon E A
Cytochrome c oxidase deficiency.
Pediatric research 1990;28(5):536-41.
1990: Bonilla E; Younger D S; Chang H W; Tantravahi U; Miranda A F; Medori R; DiMauro S; Warburton D; Rowland L P
Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy.
Neurology 1990;40(8):1267-70.
1990: DiMauro S; Bonilla E; Lombes A; Shanske S; Minetti C; Moraes C T
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
1990: Nakase H; Moraes C T; Rizzuto R; Lombes A; DiMauro S; Schon E A
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
American journal of human genetics 1990;46(3):418-27.
1990: Mita S; Rizzuto R; Moraes C T; Shanske S; Arnaudo E; Fabrizi G M; Koga Y; DiMauro S; Schon E A
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.
Nucleic acids research 1990;18(3):561-7.
1990: Tonin P; Lewis P; Servidei S; DiMauro S
Metabolic causes of myoglobinuria.
Annals of neurology 1990;27(2):181-5.
1990: Shanske S; Moraes C T; Lombes A; Miranda A F; Bonilla E; Lewis P; Whelan M A; Ellsworth C A; DiMauro S
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
Neurology 1990;40(1):24-8.
1990: Tein I; DiMauro S; DeVivo D C
Recurrent childhood myoglobinuria.
Advances in pediatrics 1990;37():77-117.
1989: Mita S; Schmidt B; Schon E A; DiMauro S; Bonilla E
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(23):9509-13.
1989: Rizzuto R; Nakase H; Darras B; Francke U; Fabrizi G M; Mengel T; Walsh F; Kadenbach B; DiMauro S; Schon E A
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues.
The Journal of biological chemistry 1989;264(18):10595-600.
1989: Moraes C T; DiMauro S; Zeviani M; Lombes A; Shanske S; Miranda A F; Nakase H; Bonilla E; Werneck L C; Servidei S
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
The New England journal of medicine 1989;320(20):1293-9.
1989: Miranda A F; Ishii S; DiMauro S; Shay J W
Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.
Neurology 1989;39(5):697-702.
1989: Schon E A; Rizzuto R; Moraes C T; Nakase H; Zeviani M; DiMauro S
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
Science (New York, N.Y.) 1989;244(4902):346-9.
1989: Moraes C T; Schon E A; DiMauro S; Miranda A F
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
Biochemical and biophysical research communications 1989;160(2):765-71.
1989: Servidei S; DiMauro S
Disorders of glycogen metabolism of muscle.
Neurologic clinics 1989;7(1):159-78.
1989: Akabas S R; Bazzy A R; DiMauro S; Haddad G G
Metabolic and functional adaptation of the diaphragm to training with resistive loads.
Journal of applied physiology (Bethesda, Md. : 1985) 1989;66(2):529-35.
1989: Lombes A; Bonilla E; Dimauro S
Mitochondrial encephalomyopathies.
Revue neurologique 1989;145(10):671-89.
1989: DiMauro S; Zeviani M; Moraes C T; Nakase H; Rizzuto R; Lombes A; Shanske S; Schon E A
Mitochondrial encephalomyopathies.
Progress in clinical and biological research 1989;306():117-28.
1988: Servidei S; Shanske S; Zeviani M; Lebo R; Fletterick R; DiMauro S
McArdle's disease: biochemical and molecular genetic studies.
Annals of neurology 1988;24(6):774-81.
1988: Sakoda S; Shanske S; DiMauro S; Schon E A
Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family.
The Journal of biological chemistry 1988;263(32):16899-905.
1988: Bonilla E; Miranda A F; Prelle A; Salviati G; Betto R; Zeviani M; Schon E A; DiMauro S; Rowland L P
Immunocytochemical study of nebulin in Duchenne muscular dystrophy.
Neurology 1988;38(10):1600-3.
1988: Zeviani M; Moraes C T; DiMauro S; Nakase H; Bonilla E; Schon E A; Rowland L P
Deletions of mitochondrial DNA in Kearns-Sayre syndrome.
Neurology 1988;38(9):1339-46.
1988: Miranda A F; Bonilla E; Martucci G; Moraes C T; Hays A P; Dimauro S
Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients.
The American journal of pathology 1988;132(3):410-6.
1988: Rizzuto R; Nakase H; Zeviani M; DiMauro S; Schon E A
Subunit Va of human and bovine cytochrome c oxidase is highly conserved.
Gene 1988;69(2):245-56.
1988: Bonilla E; Samitt C E; Miranda A F; Hays A P; Salviati G; DiMauro S; Kunkel L M; Hoffman E P; Rowland L P
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
Cell 1988;54(4):447-52.
1988: DiMauro S; Zeviani M; Rizzuto R; Lombes A; Nakase H; Bonilla E; Miranda A; Schon E
Molecular defects in cytochrome oxidase in mitochondrial diseases.
Journal of bioenergetics and biomembranes 1988;20(3):353-64.
1988: Zeviani M; Sakoda S; Sherbany A A; Nakase H; Rizzuto R; Samitt C E; DiMauro S; Schon E A
Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase.
Gene 1988;65(1):1-11.
1988: Schon E A; Bonilla E; Lombes A; Moraes C T; Nakase H; Rizzuto R; Zeviani M; DiMauro S
Clinical and biochemical studies on cytochrome oxidase deficiencies.
Annals of the New York Academy of Sciences 1988;550():348-59.
1988: DiMauro S; Zeviani M; Servidei S; Prelle A; Miranda A F; Bonilla E; Schon E A
Biochemical and molecular aspects of cytochrome C oxidase deficiency.
Advances in neurology 1988;48():93-105.
1987: DiMauro S; Servidei S; Zeviani M; DiRocco M; DeVivo D C; DiDonato S; Uziel G; Berry K; Hoganson G; Johnsen S D
Cytochrome c oxidase deficiency in Leigh syndrome.
Annals of neurology 1987;22(4):498-506.
1987: Shanske S; Sakoda S; Hermodson M A; DiMauro S; Schon E A
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
The Journal of biological chemistry 1987;262(30):14612-7.
1987: DiMauro S; Bonilla E; Zeviani M; Servidei S; DeVivo D C; Schon E A
Mitochondrial myopathies.
Journal of inherited metabolic disease 1987;10 Suppl 1():113-28.
1987: Zeviani M; Nakagawa M; Herbert J; Lomax M I; Grossman L I; Sherbany A A; Miranda A F; DiMauro S; Schon E A
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase.
Gene 1987;55(2-3):205-17.
1984: Pavlakis S G; Phillips P C; DiMauro S; De Vivo D C; Rowland L P
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
Annals of neurology 1984;16(4):481-8.

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