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Salvatore DiMauro

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Guomei Tang; Kurenai Tanji; Hasan Orhan Akman; Salvatore DiMauro; andrew dwork; James Goldman; Puri Gutierrez Rios; Sheng-Han Kuo; Gorazd Rosoklija; Eric A Schon; David Sulzer
Mitochondrial abnormalities in temporal lobe of autistic brain.
Cornelia Kornblum; Wolfram S Kunz; Thomas Meitinger; Michal Minczuk; Maurizio Moggio; Vamsi K Mootha; Thomas J Nicholls; Viktoriya Peeva; Sarah E Calvo; Giacomo P Comi; Katharina Danhauser; Salvatore DiMauro; Tobias B Haack; Kerstin Hallmann; Arcangela Iuso; Thomas Klopstock; Catarina M Quinzii; Dario Ronchi; Joanna Rorbach; Susanne Schöler; Monica Sciacco; Tim M Strom; Thomas Wieland; Gabor Zsurka; Holger Prokisch
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Valentina Emmanuele; A Reghan Foley; Jaya Ganesh; Rebecca Ichord; Purificación Gutierrez Rios; Evangelia Sotiriou; Hasan O Akman; Salvatore DiMauro
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

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2013: Guomei Tang; Kurenai Tanji; Hasan Orhan Akman; Salvatore DiMauro; andrew dwork; James Goldman; Puri Gutierrez Rios; Sheng-Han Kuo; Gorazd Rosoklija; Eric A Schon; David Sulzer
Mitochondrial abnormalities in temporal lobe of autistic brain.
Neurobiology of disease 2013;54():349-61.
2013: Cornelia Kornblum; Wolfram S Kunz; Thomas Meitinger; Michal Minczuk; Maurizio Moggio; Vamsi K Mootha; Thomas J Nicholls; Viktoriya Peeva; Sarah E Calvo; Giacomo P Comi; Katharina Danhauser; Salvatore DiMauro; Tobias B Haack; Kerstin Hallmann; Arcangela Iuso; Thomas Klopstock; Catarina M Quinzii; Dario Ronchi; Joanna Rorbach; Susanne Schöler; Monica Sciacco; Tim M Strom; Thomas Wieland; Gabor Zsurka; Holger Prokisch
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Nature genetics 2013;45(2):214-9.
2013: Valentina Emmanuele; A Reghan Foley; Jaya Ganesh; Rebecca Ichord; Purificación Gutierrez Rios; Evangelia Sotiriou; Hasan O Akman; Salvatore DiMauro
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.
Journal of child neurology 2013;28(2):236-42.
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.
2013: Carmen Paradas; Eloy Rivas; Pilar Carbonell; Purificacion Gutiérrez Ríos; Michio Hirano; Salvatore DiMauro
TK2 mutation presenting as indolent myopathy.
Neurology 2013;80(5):504-6.
2013: Daniel J M Fernández-Ayala; Angela Gavilán; Ignacio Guerra; Michio Hirano; Sandra Jiménez-Gancedo; Rafael Artuch; Paz Briones; Maria V Cascajo; Rafael De Cabo; Salvatore DiMauro; Leonardo Salviati; Plácido Navas
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.
BMJ open 2013;3(3):.
2013: Karen M Vernau; Cameron Ackerley; AW Bollen; Emily A Brown; Jessie M Cameron; Peter J Dickinson; Salvatore DiMauro; Cecilia Giulivi; Robert J Higgins; Heather J Huson; Birgit Puschner; Brian H Robinson; Jonathan A Runstadler; G Diane Shelton; Beverly K Sturges; Danika L Bannasch
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
PloS one 2013;8(3):e57195.
2012: Vivienne C M Neeve; Carsten Saft; David Samuels; Hubert Smeets; Jan Smeitink; Bart W Smits; Robert W Taylor; Doug M Turnbull; Bianca van den Bosch; Gert Van Goethem; Angela Abicht; Laurence A Bindoff; Patrick F Chinnery; Birgit Czermin; I F M de Coo; Maaike De Vries; Salvatore DiMauro; Grainne G Gorman; Michio Hirano; Elke Holinski-Feder; Gavin Hudson; Claude Jardel; Bianca-Cortina Keiling; Thomas Klopstock; Hanns Lochmüller; Anne Lombès; Rita Horvath
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Brain : a journal of neurology 2012;135(Pt 12):3614-26.
2012: Eric A Schon; Salvatore DiMauro; Michio Hirano
Human mitochondrial DNA: roles of inherited and somatic mutations.
Nature reviews. Genetics 2012;13(12):878-90.
2012: Caterina Garone; Sarah E Calvo; Salvatore DiMauro; Vamsi K Mootha; Ali Naini; Juan Carlos Rubio; Kurenai Tanji; Michio Hirano
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.
Archives of neurology 2012;69(12):1648-51.
2012: Dario Ronchi; Luisa Villa; Andreina Bordoni; Nereo Bresolin; Sarah E Calvo; Giacomo P Comi; Stefania Corti; Salvatore DiMauro; Caterina Garone; Purificacion Gutierrez Rios; Francesca Magri; Maurizio Moggio; Vamsi K Mootha; Michela Ranieri; Michela Ripolone; Mafalda Rizzuti; Monica Sciacco
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Brain : a journal of neurology 2012;135(Pt 11):3404-15.
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: Daniel B Ash; Salvatore DiMauro; Arthur P Hays; Dimitra Papadimitriou; Michio Hirano
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.
Archives of neurology 2012;69(9):1190-2.
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: Valentina Emmanuele; Kristin Engelstad; Angels Garcia-Cazorla; Hua-Bin Huang; Eduardo Bonilla; Jorida Coku; Etty P Cortes; Darryl C De Vivo; Salvatore DiMauro; Beatriz Dorado; Kurenai Tanji
Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS.
Journal of the neurological sciences 2012;317(1-2):29-34.
2012: Purificacion Gutiérrez Ríos; Hasan O Akman; Arun A Kalra; Eric A Schon; Kurenai Tanji; Jon D Wilson; Estela Area Gómez; Salvatore DiMauro
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
Archives of neurology 2012;69(5):657-61.
2012: Nichola Z Lax; Emma L Blakely; Eduardo Bonilla; Graham R Campbell; Salvatore DiMauro; Evelyn Jaros; Hans Lassmann; Nobuhiko Ohno; Amy K Reeve; Kurenai Tanji; Robert W Taylor; Doug M Turnbull; Jessica Zambonin; Don J Mahad
Loss of myelin-associated glycoprotein in kearns-sayre syndrome.
Archives of neurology 2012;69(4):490-9.
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: Juliana Gurgel-Giannetti; Michio Hirano; Sarah Teixeira Camargos; Francisco Cardoso; Salvatore DiMauro
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.
Muscle & nerve 2012;45(3):453-4.
2012: Sarah E Calvo; John Christodoulou; Alison G Compton; Salvatore DiMauro; Janice M Fletcher; Caterina Garone; Jack Goldblatt; Steven G Hershman; David B Jaffe; Adrienne Laskowski; Daniel S Lieber; Sze Chern Lim; Shangtao Liu; David R Thorburn; Elena J Tucker; Damien L Bruno; Vamsi K Mootha
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Science translational medicine 2012;4(118):118ra10.
2012: Salvatore DiMauro; Kurenai Tanji; Eric A Schon
The many clinical faces of cytochrome c oxidase deficiency.
Advances in experimental medicine and biology 2012;748():341-57.
2012: Alberto Casarin; Matteo Cassina; Cristina Cerqua; Maurizio Clementi; Salvatore DiMauro; Mara Doimo; Gianpietro Giorgi; Mercy M Davidson; Vanessa Pertegato; Rosario Rizzuto; Sabrina Sacconi; Giuseppe Basso; Sonja Brosel; Eric A Schon; Roberta Siviero; Eva Trevisson; Leonardo Salviati
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Orphanet journal of rare diseases 2012;7():21.
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: H Orhan Akman; Salvatore DiMauro; Milton J Finegold; Tatiana Sheiko; Stacey K H Tay; William J Craigen
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
Human molecular genetics 2011;20(22):4430-9.
2011: Mariko Taniguchi-Ikeda; Toshifumi Yokota; Chih-chieh Yu; Hasan O Akman; Salvatore DiMauro; Ryuji Kaji; Motoi Kanagawa; Kazuhiro Kobayashi; Atsushi Kuga; Hiroki Kurahashi; Kouhei Mori; Tetsuya Oda; Shin'ichi Takeda; Tatsushi Toda
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Nature 2011;478(7367):127-31.
2011: Salvatore DiMauro; R Spiegel
Progress and problems in muscle glycogenoses.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2011;30(2):96-102.
2011: Eva Trevisson; Salvatore DiMauro; Placido Navas; Leonardo Salviati
Coenzyme Q deficiency in muscle.
Current opinion in neurology 2011;24(5):449-56.
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: Salvatore DiMauro; C Garone
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.
Seminars in fetal & neonatal medicine 2011;16(4):181-9.
2011: Susan Brogly; Julia Choi; Michelle Chung; Salvatore DiMauro; Daniel E Libutti; Ali Naini; Russell B Van Dyke; Paige L Williams; Mariana Gerschenson
Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children.
AIDS research and human retroviruses 2011;27(7):777-83.
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: Salvatore DiMauro
A history of mitochondrial diseases.
Journal of inherited metabolic disease 2011;34(2):261-76.
2010: Salvatore DiMauro
Pathogenesis and treatment of mitochondrial myopathies: recent advances.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2010;29(2):333-8.
2010: Salvatore DiMauro; Caterina Garone; Ali Naini
Metabolic myopathies.
Current rheumatology reports 2010;12(5):386-93.
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: Carmela Scuderi; Eugenia Borgione; Filippa Castello; Mariangela Lo Giudice; Marco Fichera; Maurizio Elia; Carmelo Amato; Maria Savio; Francesco Domenico Di Blasi; Girolamo Aurelio Vitello; Salvatore Romano; Salvatore DiMauro; Sebastiano A Musumeci
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.
Mitochondrion 2010;10(5):548-54.
2010: Salvatore DiMauro; Caterina Garone
Historical perspective on mitochondrial medicine.
Developmental disabilities research reviews 2010;16(2):106-13.
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: Yutaka Nishigaki; Hitomi Ueno; Jorida Coku; Yasutoshi Koga; Tatsuya Fujii; Ko Sahashi; Kazutoshi Nakano; Makoto Yoneda; Michiko Nonaka; Linya Tang; Chia-Wei Liou; Veronique Paquis-Flucklinger; Yasuo Harigaya; Tohru Ibi; Yu-ichi Goto; Hiroko Hosoya; Salvatore DiMauro; Michio Hirano; Masashi Tanaka
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
Mitochondrion 2010;10(3):300-8.
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: Bulent Kurt; Jaak Jaeken; Johan Van Hove; Lieven Lagae; Ann Löfgren; David B Everman; Parul Jayakar; Ali Naini; Klaas Jan Wierenga; Gert Van Goethem; William C Copeland; Salvatore DiMauro
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Archives of neurology 2010;67(2):239-44.
2010: Andoni Echaniz-Laguna; Hasan O Akman; Michel Mohr; Christine Tranchant; Violaine Talmant-Verbist; Marie-Odile Rolland; Salvatore DiMauro
Muscle phosphorylase b kinase deficiency revisited.
Neuromuscular disorders : NMD 2010;20(2):125-7.
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: Salvatore DiMauro; Pierre Rustin
A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases.
Biochimica et biophysica acta 2009;1792(12):1159-67.
2009: Rita Horvath; John P Kemp; Helen A L Tuppen; Gavin Hudson; Anders Oldfors; Suely K N Marie; Ali-Reza Moslemi; Serenella Servidei; Elisabeth Holme; Sara Shanske; Gittan Kollberg; Parul Jayakar; Angela Pyle; Harold M Marks; Elke Holinski-Feder; Mena Scavina; Maggie C Walter; Jorida Coku; Andrea Günther-Scholz; Paul M Smith; Robert McFarland; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Michio Hirano; Hanns Lochmüller; Robert W Taylor; Patrick F Chinnery; Mar Tulinius; Salvatore DiMauro
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain : a journal of neurology 2009;132(Pt 11):3165-74.
2009: Gianluca Sgarbi; Gabriella A Casalena; Alessandra Baracca; Giorgio Lenaz; Salvatore DiMauro; Giancarlo Solaini
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.
Archives of neurology 2009;66(8):951-7.
2009: Michio Hirano; Salvatore DiMauro
VMA21 deficiency: a case of myocyte indigestion.
Cell 2009;137(2):213-5.
2009: Salvatore DiMauro; Margherita Milone; B Mark Keegan
A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia.
Neurology 2009;72(14):1262-8.
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: Randy J Chandler; Patricia M Zerfas; Sara Shanske; Jennifer Sloan; Victoria Hoffmann; Salvatore DiMauro; Charles Venditti
Mitochondrial dysfunction in mut methylmalonic acidemia.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009;23(4):1252-61.
2009: Ali Naini; Antonio Toscano; Olimpia Musumeci; John Vissing; Hasan O Akman; Salvatore DiMauro
Muscle phosphoglycerate mutase deficiency revisited.
Archives of neurology 2009;66(3):394-8.
2009: Ronen Spiegel; Estela Area Gomez; Hasan O Akman; Sindu Krishna; Yoseph Horovitz; Salvatore DiMauro
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Neuromuscular disorders : NMD 2009;19(3):207-11.
2009: Mahsa Mehrazin; Sara Shanske; Petra Kaufmann; Ying Wei; Jorida Coku; Kristin Engelstad; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
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: Salvatore DiMauro; Michio Hirano
Pathogenesis and treatment of mitochondrial disorders.
Advances in experimental medicine and biology 2009;652():139-70.
2009: Petra Kaufmann; Kristin Engelstad; Ying Wei; Romana Kulikova; Maryam Oskoui; Vanessa Battista; Dorcas Y Koenigsberger; Juan M Pascual; Mary Sano; Michio Hirano; Salvatore DiMauro; Dikoma C Shungu; Xiangling Mao; Darryl C De Vivo
Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Archives of neurology 2009;66(1):85-91.
2008: Filomena Campagna; Luisa Nanni; Fabiana Quagliarini; Elena Pennisi; Constantine Michailidis; Francesco Pierelli; Claudio Bruno; Carlo Casali; Salvatore DiMauro; Marcello Arca
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: 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: Stacey K H Tay; Salvatore DiMauro; Aileen Y W Pang; Poh San Lai; Hui-Kim Yap
Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation.
Pediatric neurology 2008;39(6):426-8.
2008: Claudio Bruno; Salvatore DiMauro
Lipid storage myopathies.
Current opinion in neurology 2008;21(5):601-6.
2008: Salvatore DiMauro; Julio Montoya Villaroya
Giuseppe Attardi, MD (1923-2008).
Archives of neurology 2008;65(8):1130.
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: Anna M Firshman; Stephanie J Valberg; John D Baird; Luanne Hunt; Salvatore DiMauro
Insulin sensitivity in Belgian horses with polysaccharide storage myopathy.
American journal of veterinary research 2008;69(6):818-23.
2008: Belén Bornstein; Estela Area; Kevin M Flanigan; Jai Ganesh; Parul Jayakar; Kathryn J Swoboda; Jorida Coku; Ali Naini; Sara Shanske; Kurenai Tanji; Michio Hirano; Salvatore DiMauro
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Neuromuscular disorders : NMD 2008;18(6):453-9.
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: Claudio Bruno; Enrico Bertini; Maja Di Rocco; Denise Cassandrini; Giuseppe Ruffa; Teresa De Toni; Marco Seri; Marco Spada; Giovanni Li Volti; Adele D'Amico; Federica Trucco; Marcello Arca; Carlo Casali; Corrado Angelini; Salvatore DiMauro; Carlo Minetti
Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Biochemical and biophysical research communications 2008;369(4):1125-8.
2008: Molly E McCue; Stephanie J Valberg; Michael B Miller; Claire Wade; Salvatore DiMauro; Hasan O Akman; James R Mickelson
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
Genomics 2008;91(5):458-66.
2008: Elizabeth A Amiott; Paul Lott; Jamie Soto; Peter B Kang; J Michael McCaffery; Salvatore DiMauro; E Dale Abel; Kevin M Flanigan; Victoria H Lawson; Janet M Shaw
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
Experimental neurology 2008;211(1):115-27.
2008: Anastasia E Konstantinidou; Hector Anninos; S Dertinger; Aphrodite Nonni; M Petersen; Charalampos L Karadimas; Sophia Havaki; Evangelos Marinos; H O Akman; Salvatore DiMauro; Efstratios Patsouris
Placental involvement in glycogen storage disease type IV.
Placenta 2008;29(4):378-81.
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: Michelangelo Mancuso; Giulia Ricci; Anna Choub; Massimiliano Filosto; Salvatore DiMauro; Guido Davidzon; Alessandra Tessa; Filippo M Santorelli; Luigi Murri; Gabriele Siciliano
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.
Journal of affective disorders 2008;106(1-2):173-7.
2008: Salvatore DiMauro; Eric A Schon
Mitochondrial disorders in the nervous system.
Annual review of neuroscience 2008;31():91-123.
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: Esko Wiltshire; Guido Davidzon; Salvatore DiMauro; Hasan O Akman; Lynette Sadleir; Lindsay Haas; Jane Zuccollo; Alison McEwen; David R Thorburn
Juvenile Alpers disease.
Archives of neurology 2008;65(1):121-4.
2008: H A L Tuppen; Fabiana Fattori; Rosalba Carrozzo; Massimo Zeviani; Salvatore DiMauro; S Seneca; J E Martindale; S E Olpin; E P Treacy; Robert McFarland; Filippo M Santorelli; Robert W Taylor
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Journal of medical genetics 2008;45(1):55-61.
2007: Hasan O Akman; James N Sampayo; Fiona A Ross; John W Scott; Gregory Wilson; Lee Benson; Claudio Bruno; Sara Shanske; D Grahame Hardie; Salvatore DiMauro
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: Jacklyn Pancrudo; Sara Shanske; Jorida Coku; Jiesheng Lu; Rebecca Mardach; Orhan Akman; Sindu Krishna; Eduardo Bonilla; Salvatore DiMauro
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Neuromuscular disorders : NMD 2007;17(8):651-4.
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: Jacklyn Pancrudo; Sara Shanske; Eduardo Bonilla; Mariza Daras; Hasan O Akman; Sindu Krishna; Elfrida Malkin; Salvatore DiMauro
Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
Journal of child neurology 2007;22(7):858-62.
2007: Anna H Hakonen; Guido Davidzon; Renato Salemi; Laurence A Bindoff; Gert Van Goethem; Salvatore DiMauro; David R Thorburn; Anu Suomalainen
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: Salvatore DiMauro; Michelangelo Mancuso
Mitochondrial diseases: therapeutic approaches.
Bioscience reports 2007;27(1-3):125-37.
2007: Catarina M Quinzii; Michio Hirano; Salvatore DiMauro
CoQ10 deficiency diseases in adults.
Mitochondrion 2007;7 Suppl():S122-6.
2007: Salvatore DiMauro
Mitochondrial DNA medicine.
Bioscience reports 2007;27(1-3):5-9.
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.
2007: Carmela Scuderi; Eugenia Borgione; Sebastiano Musumeci; Maurizio Elia; Filippa Castello; Marco Fichera; Guido Davidzon; Salvatore DiMauro
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
Neuromuscular disorders : NMD 2007;17(3):258-61.
2007: Salvatore DiMauro; Orhan Akman; Arthur P Hays
Disorders of carbohydrate metabolism.
Handbook of clinical neurology 2007;86():167-82.
2007: Eric A Schon; Salvatore DiMauro
Mitochondrial mutations: genotype to phenotype.
Novartis Foundation symposium 2007;287():214-25; discussion 226-33.
2007: William Schubert; Federica Sotgia; Alex W Cohen; Franco Capozza; Gloria Bonuccelli; Claudio Bruno; Carlo Minetti; Eduardo Bonilla; Salvatore DiMauro; Michael P Lisanti
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: Mansour Alemi; Alessandro Prigione; Alice Wong; Robert Schoenfeld; Salvatore DiMauro; Michio Hirano; Franco Taroni; Gino Cortopassi
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.
Free radical biology & medicine 2007;42(1):32-43.
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: Salvatore DiMauro; Michio Hirano
Pedaling from genotype to phenotype.
Archives of neurology 2006;63(12):1679-80.
2006: Salvatore DiMauro
Mitochondrial myopathies.
Current opinion in rheumatology 2006;18(6):636-41.
2006: Shin J Oh; Kyung-Seok Park; Hewitt F Ryan; Moris J Danon; Jiesheng Lu; Ali Naini; Salvatore DiMauro
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.
Muscle & nerve 2006;34(5):572-6.
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: Hasan O Akman; Charalampos Karadimas; Yolanda Gyftodimou; Maria Grigoriadou; Haris Kokotas; Anastasia E Konstantinidou; Hector Anninos; Efstratios Patsouris; Harshwardhan M Thaker; Jeffrey B Kaplan; Isaam Besharat; Konstantina Hatzikonstantinou; Spyridon Fotopoulos; Salvatore DiMauro; Michael B Petersen
Prenatal diagnosis of glycogen storage disease type IV.
Prenatal diagnosis 2006;26(10):951-5.
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: Maryam Oskoui; Guido Davidzon; Juan Pascual; Ricardo Erazo; Juliana Gurgel-Giannetti; Sindu Krishna; Eduardo Bonilla; Darryl C De Vivo; Sara Shanske; Salvatore DiMauro
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Archives of neurology 2006;63(8):1122-6.
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: Anastasia E Konstantinidou; Hector Anninos; Yolanda Gyftodimou; Michael B Petersen; Charalampos Karadimas; S Fotopoulos; H Paraskevakou; Hasan O Akman; Salvatore DiMauro; Efstratios Patsouris
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.
Histopathology 2006;48(7):878-80.
2006: Petra Kaufmann; Juan M Pascual; Yaacov Anziska; Clifton L Gooch; Kristin Engelstad; Sarah Jhung; Salvatore DiMauro; Darryl C De Vivo
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.
Archives of neurology 2006;63(5):746-8.
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: antonella spinazzola; Carlo Viscomi; Erika Fernandez-Vizarra; Franco Carrara; Pio D'Adamo; Sarah Calvo; René Massimiliano Marsano; Claudia Donnini; Hans Weiher; Pietro Strisciuglio; Rossella Parini; Emmanuelle Sarzi; Alicia Chan; Salvatore DiMauro; Agnès Rötig; Paolo Gasparini; Iliana Ferrero; Vamsi K Mootha; Valeria Tiranti; Massimo Zeviani
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nature genetics 2006;38(5):570-5.
2006: Alfred E Slonim; Linda Bulone; Jennifer Minikes; Arthur P Hays; Sara Shanske; Seiichi Tsujino; Salvatore DiMauro
Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?
Muscle & nerve 2006;33(4):571-4.
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: R K Shepherd; Nicoletta Checcarelli; Ali Naini; Darryl C De Vivo; Salvatore DiMauro; Carolyn M Sue
Measurement of ATP production in mitochondrial disorders.
Journal of inherited metabolic disease 2006;29(1):86-91.
2006: Stacey H K Tay; Douglas R Nordli; Eduardo Bonilla; Edward Null; Sara Monaco; Michio Hirano; Salvatore DiMauro
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
Archives of neurology 2006;63(2):281-3.
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: Rita Horvath; Peter Schneiderat; Benedikt Schoser; Klaus Gempel; E Neuen-Jacob; H Plöger; Josef Müller-Höcker; Dieter Pongratz; Ali Naini; Salvatore DiMauro; Hanns Lochmüller
Coenzyme Q10 deficiency and isolated myopathy.
Neurology 2006;66(2):253-5.
2005: Sakkubai Naidu; Genila Bibat; Doris D M Lin; Peter C Burger; Peter B Barker; Sérgio Rosemberg; Nancy Braverman; Hugo Arroyo; Michael Dowling; Ada Hamosh; Virginia E Kimonis; Carol Blank; Agata Fiumara; Sergio Facchini; Bhim Singhal; Hugo Moser; Richard I Kelley; Salvatore DiMauro
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Annals of neurology 2005;58(6):929-38.
2005: Sabrina Sacconi; Eva Trevisson; Francesca Pistollato; Maria Cristina Baldoin; Roger Rezzonico; Isabelle Bourget; Claude Desnuelle; Romano Tenconi; Giuseppe Basso; Salvatore DiMauro; Leonardo Salviati
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.
Biochemical and biophysical research communications 2005;337(3):832-9.
2005: Costanza Lamperti; Ali Naini; Valeria Lucchini; Alessandro Prelle; Nereo Bresolin; Maurizio Moggio; Monica Sciacco; Petra Kaufmann; Salvatore DiMauro
Muscle coenzyme Q10 level in statin-related myopathy.
Archives of neurology 2005;62(11):1709-12.
2005: Eroboghene E Ubogu; Stacey Tay Kiat Hong; Hasan Orhan Akman; Salvatore DiMauro; Bashar Katirji; David C Preston; Barbara E Shapiro
Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Muscle & nerve 2005;32(5):675-81.
2005: Salvatore DiMauro; Juliana Gurgel-Giannetti
The expanding phenotype of mitochondrial myopathy.
Current opinion in neurology 2005;18(5):538-42.
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: Steve E Durham; E Bonilla; David Samuels; Salvatore DiMauro; Patrick F Chinnery
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
Neurology 2005;65(3):453-5.
2005: Stacey K H Tay; Sabrina Sacconi; Hasan O Akman; Judith F Morales; Augusto Morales; Darryl C De Vivo; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
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: Mubeen F Rafay; E Gordon Murphy; J Denis McGarry; Petra Kaufmann; Salvatore DiMauro; Ingrid Tein
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: Patrick F Chinnery; Salvatore DiMauro
Mitochondrial hepatopathies.
Journal of hepatology 2005;43(2):207-9.
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: Fuki M Hisama; Michelangelo Mancuso; Massimiliano Filosto; Salvatore DiMauro
Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy.
American journal of medical genetics. Part A 2005;135(2):217-9.
2005: Michelangelo Mancuso; Silvio Ferraris; Jacklyn Pancrudo; Annette Feigenbaum; Julian Raiman; John Christodoulou; David R Thorburn; Salvatore DiMauro
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Archives of neurology 2005;62(5):745-7.
2005: Michio Hirano; Salvatore DiMauro
Leber hereditary optic neuropathy: biochemical lights in a blurry scenario.
Archives of neurology 2005;62(5):711-2.
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: Stacey K H Tay; Sara Shanske; Carol Crowe; Alan L Shanske; Irwin Schafer; Jacklyn Pancrudo; Jiesheng Lu; Eduardo Bonilla; Salvatore DiMauro
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: 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: Salvatore DiMauro; Guido Davidzon
Mitochondrial DNA and disease.
Annals of medicine 2005;37(3):222-32.
2004: Salvatore DiMauro
Mitochondrial medicine.
Biochimica et biophysica acta 2004;1659(2-3):107-14.
2004: Stacey K H Tay; Claudia Nesti; Michelangelo Mancuso; Eric A Schon; Sara Shanske; Eduardo Bonilla; Mercy M Davidson; Salvatore DiMauro
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Archives of neurology 2004;61(12):1935-7.
2004: Francesco Pallotti; Alessandra Baracca; Evelyn Hernandez-Rosa; Winsome F Walker; Giancarlo Solaini; Giorgio Lenaz; Gian Vico Melzi d'Eril; Salvatore DiMauro; Eric A Schon; Mercy M Davidson
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.
The Biochemical journal 2004;384(Pt 2):287-93.
2004: Michelangelo Mancuso; Massimiliano Filosto; Shin J Oh; Salvatore DiMauro
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
Archives of neurology 2004;61(11):1777-9.
2004: Sara Shanske; Jacklyn Pancrudo; Petra Kaufmann; Kristin Engelstad; Sarah Jhung; Jiesheng Lu; Ali Naini; Salvatore DiMauro; Darryl C De Vivo
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: Claudio Bruno; Otto P van Diggelen; Denise Cassandrini; M Gimpelev; B Giuffrè; Maria Alice Donati; P Introvini; A Alegria; Stefania Assereto; Lucia Morandi; M Mora; Emmanuel Tonoli; S Mascelli; Monica Traverso; E Pasquini; Massimo Bado; L Vilarinho; G van Noort; F Mosca; Salvatore DiMauro; Federico Zara; Carlo Minetti
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Neurology 2004;63(6):1053-8.
2004: Salvatore DiMauro
The many faces of mitochondrial diseases.
Mitochondrion 2004;4(5-6):799-807.
2004: Patrick F Chinnery; Salvatore DiMauro; Sara Shanske; Eric A Schon; Massimo Zeviani; Caterina Mariotti; Franco Carrara; Anne Lombes; Pascal Laforet; Helène Ogier; Michaela Jaksch; Hanns Lochmüller; Rita Horvath; Marcus Deschauer; David R Thorburn; Laurence A Bindoff; Joanna Poulton; Robert W Taylor; J N S Matthews; Douglass M Turnbull
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Massimiliano Filosto; Michelangelo Mancuso; Giuliano Tomelleri; Nicolo Rizzuto; Bernardo Dalla Bernardina; Salvatore DiMauro; Alessandro Simonati
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
Acta neuropathologica 2004;108(2):168-71.
2004: Salvatore DiMauro
Mitochondrial diseases.
Biochimica et biophysica acta 2004;1658(1-2):80-8.
2004: Leonardo Salviati; Cindy Freehauf; Sabrina Sacconi; Salvatore DiMauro; Janet Thoma; Anne Chun-Hui Tsai
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: Todd D Rozen; Sara Shanske; David Otaegui; Jiesheng Lu; William B Young; Kathy Bradley; Salvatore DiMauro; Stephen D Silberstein
Study of mitochondrial DNA mutations in patients with migraine with prolonged aura.
Headache 2004;44(7):674-7.
2004: Michelangelo Mancuso; Massimiliano Filosto; V K Mootha; Anna Rocchi; Sabina Pistolesi; Luigi Murri; Salvatore DiMauro; Gabriele Siciliano
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
Neurology 2004;62(11):2119-21.
2004: Stacey K H Tay; Sara Shanske; Paige Kaplan; Salvatore DiMauro
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
Archives of neurology 2004;61(6):950-2.
2004: Tatjana Rundek; Ali Naini; Ralph L Sacco; Kristen Coates; Salvatore DiMauro
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: Michelangelo Mancuso; Cristofol Vives-Bauza; Massimiliano Filosto; R Marti; Abelardo Solano; Julio Montoya; Josep Gamez; Salvatore DiMauro; Antoni L Andreu
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: 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: Cigdem Inan Akman; Carolyn M Sue; Sara Shanske; Kurenai Tanji; Eduardo Bonilla; Joceline Ojaimi; Sindu Krishna; Romaine Schubert; Salvatore DiMauro
Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
Journal of child neurology 2004;19(4):258-61.
2004: Salvatore DiMauro; Michelangelo Mancuso; Ali Naini
Mitochondrial encephalomyopathies: therapeutic approach.
Annals of the New York Academy of Sciences 2004;1011():232-45.
2004: Salvatore DiMauro; Stacey Tay; Michelangelo Mancuso
Mitochondrial encephalomyopathies: diagnostic approach.
Annals of the New York Academy of Sciences 2004;1011():217-31.
2004: Stacey K H Tay; Hasan O Akman; Wendy Chung; Michael G Pike; Francesco Muntoni; Arthur P Hays; Sara Shanske; Stephanie J Valberg; James R Mickelson; Kurenai Tanji; Salvatore DiMauro
Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
Neuromuscular disorders : NMD 2004;14(4):253-60.
2004: Maira Gironi; Costanza Lamperti; Raffaello Nemni; Maurizio Moggio; Giancarlo Comi; Franca R Guerini; Pasquale Ferrante; Nicola Canal; Ali Naini; Nereo Bresolin; Salvatore DiMauro
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
Neurology 2004;62(5):818-20.
2004: Simon S Rabinowitz; Daniel Gelfond; Chun-Kuo Chen; Elizabeth S Gloster; Peter F Whitington; Sabrina Sacconi; Leonardo Salviati; Salvatore DiMauro
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: Michelangelo Mancuso; Massimiliano Filosto; Marzio Bellan; Rocco Liguori; Pasquale Montagna; Agostino Baruzzi; Salvatore DiMauro; Valerio Carelli
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
Neurology 2004;62(2):316-8.
2004: Charles Venditti; M C Harris; Dale S Huff; I Peterside; D Munson; H S Weber; J Rome; Edward M Kaye; Sara Shanske; Sabrina Sacconi; S Tay; Salvatore DiMauro; Gerard T Berry
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Journal of inherited metabolic disease 2004;27(6):735-9.
2004: Roser Pons; Antoni L Andreu; Nicoletta Checcarelli; Maya R Vilà; Kristin Engelstad; Carolyn M Sue; Dikoma Shungu; Rita Haggerty; Darryl C De Vivo; Salvatore DiMauro
Mitochondrial DNA abnormalities and autistic spectrum disorders.
The Journal of pediatrics 2004;144(1):81-5.
2003: Michael Schlame; Richard I Kelley; Annette Feigenbaum; Jeffrey A Towbin; Paul M Heerdt; Thomas Schieble; Ronald J A Wanders; Salvatore DiMauro; Thomas J J Blanck
Phospholipid abnormalities in children with Barth syndrome.
Journal of the American College of Cardiology 2003;42(11):1994-9.
2003: Antonio L Andreu; Salvatore DiMauro
Current classification of mitochondrial disorders.
Journal of neurology 2003;250(12):1403-6.
2003: Eric A Schon; Salvatore DiMauro
Medicinal and genetic approaches to the treatment of mitochondrial disease.
Current medicinal chemistry 2003;10(23):2523-33.
2003: Michelangelo Mancuso; Massimiliano Filosto; Seiichi Tsujino; Costanza Lamperti; Sara Shanske; Michéle Coquet; Claude Desnuelle; Salvatore DiMauro
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: 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: 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: Salvatore DiMauro; Eric A Schon
Mitochondrial respiratory-chain diseases.
The New England journal of medicine 2003;348(26):2656-68.
2003: Merlin G Butler; Majed Dasouki; Douglas C Bittel; Susan Hunter; Ali Naini; Salvatore DiMauro
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: Robert W Taylor; Carla Giordano; Mercy M Davidson; Giulia d'Amati; Hugh Bain; Christine M Hayes; Helen Leonard; Martin J Barron; Carlo Casali; Filippo M Santorelli; Michio Hirano; Robert N Lightowlers; Salvatore DiMauro; Douglass M Turnbull
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: Michelangelo Mancuso; Massimiliano Filosto; J Clarke Stevens; Marc Patterson; Sara Shanske; Sindu Krishna; Salvatore DiMauro
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: 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: Sabrina Sacconi; Leonardo Salviati; Carolyn M Sue; Sara Shanske; Mercy M Davidson; Eduardo Bonilla; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatric research 2003;53(2):224-30.
2003: Tanja Taivassalo; Tina Dysgaard Jensen; Nancy G Kennaway; Salvatore DiMauro; John Vissing; Ronald G Haller
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: 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: Samih H Nasr; Howard Corey; Sara Shanske; Jacklyn Pancrudo; Petra Kaufmann; Glen S Markowitz; Salvatore DiMauro; Vivette D D'Agati
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: Kurenai Tanji; Josep Gamez; Carlos Cervera; Fermín Mearin; Arantxa Ortega; Javier de la Torre; Julio Montoya; Antoni L Andreu; Salvatore DiMauro; Eduardo Bonilla
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
Acta neuropathologica 2003;105(1):69-75.
2002: Salvatore DiMauro; Antoni L Andreu; Darryl C De Vivo
Mitochondrial disorders.
Journal of child neurology 2002;17 Suppl 3():3S35-45; discussion 3S46-7.
2002: Lionel Van Maldergem; Frans Trijbels; Salvatore DiMauro; Pavel Sindelar; Olimpia Musumeci; Antoon Janssen; Xavier Delberghe; Jean-Jacques Martin; Yves Gillerot
Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
Annals of neurology 2002;52(6):750-4.
2002: Robert L Wortmann; Salvatore DiMauro
Differentiating idiopathic inflammatory myopathies from metabolic myopathies.
Rheumatic diseases clinics of North America 2002;28(4):759-78.
2002: Salvatore DiMauro; Kurenai Tanji; Eduardo Bonilla; Francesco Pallotti; Eric A Schon
Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.
Muscle & nerve 2002;26(5):597-607.
2002: Charalampos L Karadimas; Leonardo Salviati; Sabrina Sacconi; Penelope Chronopoulou; Sara Shanske; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
Neuromuscular disorders : NMD 2002;12(9):865-8.
2002: Georgios M Hadjigeorgiou; Menachem Sadeh; Olimpia Musumeci; Ron Dabby; Laura De Girolami; Ali Naini; Alexandros Papadimitriou; Sara Shanske; Salvatore DiMauro
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
Neuromuscular disorders : NMD 2002;12(9):824-7.
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: Tuan H Vu; Michio Hirano; Salvatore DiMauro
Mitochondrial diseases.
Neurologic clinics 2002;20(3):809-39, vii-viii.
2002: Andrzej Kiejna; Salvatore DiMauro; Tomasz Adamowski; Joanna Rymaszewska; Jerzy Leszek; Maria Pachalska
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: Sabrina Sacconi; Leonardo Salviati; Clifton L Gooch; Eduardo Bonilla; Sara Shanske; Salvatore DiMauro
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Archives of neurology 2002;59(6):1013-5.
2002: Michael Schlame; Jeffrey A Towbin; Paul M Heerdt; Roswitha Jehle; Salvatore DiMauro; Thomas J J Blanck
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Annals of neurology 2002;51(5):634-7.
2002: Leonardo Salviati; Sabrina Sacconi; Minerva M Rasalan; David F Kronn; Alex Braun; Peter Canoll; Mercy Davidson; Sara Shanske; Eduardo Bonilla; Arthur P Hays; Eric A Schon; Salvatore DiMauro
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Archives of neurology 2002;59(5):862-5.
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: Leonardo Salviati; Evelyn Hernandez-Rosa; Winsome F Walker; Sabrina Sacconi; Salvatore DiMauro; Eric A Schon; Mercy M Davidson
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: Georgios M Hadjigeorgiou; Alexandros Papadimitriou; Olimpia Musumeci; Konstantinos N Paterakis; Konstantina Flabouriari; Sara Shanske; Salvatore DiMauro
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: Maria Pachalska; Salvatore DiMauro; Maria Formińska-Kapuścik; Henryk Kurzbauer; Jan Talar; Bruce Duncan MacQueen; Iwona Pawlicka; Irena Jeleńska-Szyguła
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: 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.
2002: Michio Hirano; Salvatore DiMauro
Metabolic myopathies.
Advances in neurology 2002;88():217-34.
2001: Salvatore DiMauro
Lessons from mitochondrial DNA mutations.
Seminars in cell & developmental biology 2001;12(6):397-405.
2001: Salvatore DiMauro; Antoni L Andreu
Mutations in mitochondrial DNA as a cause of exercise intolerance.
Annals of medicine 2001;33(7):472-6.
2001: Salvatore DiMauro; Antoni L Andreu; Olimpia Musumeci; Eduardo Bonilla
Diseases of oxidative phosphorylation due to mtDNA mutations.
Seminars in neurology 2001;21(3):251-60.
2001: Tanja Taivassalo; Eric A Shoubridge; J Chen; Nancy G Kennaway; Salvatore DiMauro; Douglas L Arnold; Ronald G Haller
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects.
Annals of neurology 2001;50(2):133-41.
2001: Salvatore DiMauro; Costanza Lamperti
Muscle glycogenoses.
Muscle & nerve 2001;24(8):984-99.
2001: Tuan H Vu; Arthur P Hays; Kurenai Tanji; DS Younger; Gregg G Gundersen; A Eastwood; C W Braun; Salvatore DiMauro; Eduardo Bonilla
Myopathy with tubulin-reactive crystalline inclusions.
Neurology 2001;57(1):149-52.
2001: Maria Pachalska; Salvatore DiMauro; Bruce Duncan MacQueen; W Tłokiński; I Jeleńska-Szyguła
[Pathomechanism and clinical presentation of neurobehavioral disturbances in a patient with MELAS syndrome].
Neurologia i neurochirurgia polska 2001;35(4):681-93.
2001: Charalampos L Karadimas; Kurenai Tanji; M Geremek; Penelope Chronopoulou; T Vu; Sindu Krishna; Carolyn M Sue; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro; M Lipson; R Bachman
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
Journal of child neurology 2001;16(7):531-3.
2001: Tuan H Vu; Kurenai Tanji; STEPHEN HOLVE; Eduardo Bonilla; Ronald Sokol; R D Snyder; S Fiore; G H Deutsch; Salvatore DiMauro; Darryl C De Vivo
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
Hepatology (Baltimore, Md.) 2001;34(1):116-20.
2001: Nina Raben; M Danon; N Lu; E Lee; L Shliselfeld; Alexander Skurat; Peter J Roach; John C Lawrence; Olimpia Musumeci; Sara Shanske; Salvatore DiMauro; Paul H Plotz
Surprises of genetic engineering: a possible model of polyglucosan body disease.
Neurology 2001;56(12):1739-45.
2001: M Hirano; M Davidson; Salvatore DiMauro
Mitochondria and the heart.
Current opinion in cardiology 2001;16(3):201-10.
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: Salvatore DiMauro
Ottorino Rossi Award 2001. Mitochondrial DNA: a genetic Pandora's box.
Functional neurology 2001;16(2):103-16.
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: Salvatore DiMauro; Eric A Schon
Mitochondrial DNA mutations in human disease.
American journal of medical genetics 2001;106(1):18-26.
2000: A Shtilbans; Sara Shanske; S Goodman; Carolyn M Sue; Claudio Bruno; T L Johnson; N S Lava; N Waheed; Salvatore DiMauro
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: Charalampos L Karadimas; Penny Greenstein; Carolyn M Sue; Jeffrey T Joseph; Kurenai Tanji; Ronald G Haller; Tanja Taivassalo; Mercy M Davidson; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
Neurology 2000;55(5):644-9.
2000: Kurenai Tanji; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium.
Journal of the neurological sciences 2000;178(1):29-36.
2000: Antoni L Andreu; Nicoletta Checcarelli; S Iwata; Sara Shanske; Salvatore DiMauro
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
Pediatric research 2000;48(3):311-4.
2000: Salvatore DiMauro; Antoni L Andreu
Mutations in mtDNA: are we scraping the bottom of the barrel?
Brain pathology (Zurich, Switzerland) 2000;10(3):431-41.
2000: Salvatore DiMauro
Introduction: mitochondrial encephalomyopathies.
Brain pathology (Zurich, Switzerland) 2000;10(3):419-21.
2000: Claudio Bruno; Massimo Bado; Carlo Minetti; Giuseppe Cordone; Salvatore DiMauro
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: 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: Olimpia Musumeci; Antoni L Andreu; Sara Shanske; N Bresolin; G P Comi; R Rothstein; Eric A Schon; Salvatore DiMauro
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: 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: Claudio Bruno; E Bertini; Filippo M Santorelli; Salvatore DiMauro
HyperCKemia as the only sign of McArdle's disease in a child.
Journal of child neurology 2000;15(2):137-8.
2000: R Fernández; Carmen Navarro; Antoni L Andreu; Claudio Bruno; Sara Shanske; Josep Gámez; Susana Teijeira; I Hernández; A Teijeiro; J M Fernández; Olimpia Musumeci; Salvatore DiMauro
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
Archives of neurology 2000;57(2):217-9.
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: Salvatore DiMauro
Exercise intolerance and the mitochondrial respiratory chain.
Italian journal of neurological sciences 1999;20(6):387-93.
1999: Salvatore DiMauro; Eduardo Bonilla; Darryl C De Vivo
Does the patient have a mitochondrial encephalomyopathy?
Journal of child neurology 1999;14 Suppl 1():S23-35.
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: Claudio Bruno; M DiRocco; Laura Doria Lamba; Massimo Bado; C Marino; S Tsujino; Sara Shanske; G Stella; Carlo Minetti; Otto P van Diggelen; Salvatore DiMauro
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: Georgios M Hadjigeorgiou; N Kawashima; Claudio Bruno; Antoni L Andreu; Carolyn M Sue; D J Rigden; A Kawashima; Sara Shanske; Salvatore DiMauro
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: Antoni L Andreu; Michael G Hanna; Heinz Reichmann; Claudio Bruno; A S Penn; Kurenai Tanji; Francesco Pallotti; S Iwata; Eduardo Bonilla; B Lach; JA Morgan-Hughes; Salvatore DiMauro
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: A Shtilbans; M el-Schahawi; E Malkin; Sara Shanske; Olimpia Musumeci; Salvatore DiMauro
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: Michael Schlame; S Shanske; S Doty; T König; T Sculco; Salvatore DiMauro; Thomas J J Blanck
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease.
Journal of lipid research 1999;40(9):1585-92.
1999: Claudio Bruno; Andrea Martinuzzi; Yingying Tang; Antoni L Andreu; Francesco Pallotti; Eduardo Bonilla; Sara Shanske; J Fu; Carolyn M Sue; Corrado Angelini; Salvatore DiMauro; Giovanni Manfredi
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: Kurenai Tanji; Salvatore DiMauro; Eduardo Bonilla
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome.
Journal of the neurological sciences 1999;166(1):64-70.
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: Claudio Bruno; Mervi Löfberg; L Tamburino; Heidi Jänkälä; Georgios M Hadjigeorgiou; Antoni L Andreu; Sara Shanske; Hannu Somer; Salvatore DiMauro
Molecular characterization of McArdle's disease in two large Finnish families.
Journal of the neurological sciences 1999;165(2):121-5.
1999: Antoni L Andreu; K Tanji; Claudio Bruno; Georgios M Hadjigeorgiou; Carolyn M Sue; C Jay; T Ohnishi; Sara Shanske; E Bonilla; Salvatore DiMauro
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Annals of neurology 1999;45(6):820-3.
1999: Carolyn M Sue; C Bruno; Antoni L Andreu; Abba Cargan; Jerry R Mendell; Chang-Yong Tsao; Mark Luquette; J Paolicchi; Sara Shanske; Salvatore DiMauro; Darryl C De Vivo
Infantile encephalopathy associated with the MELAS A3243G mutation.
The Journal of pediatrics 1999;134(6):696-700.
1999: Antoni L Andreu; Claudio Bruno; L Tamburino; Josep Gamez; Sara Shanske; Carlos Cervera; Carmen Navarro; Salvatore DiMauro
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: Antoni L Andreu; Claudio Bruno; Georgios M Hadjigeorgiou; Sara Shanske; Salvatore DiMauro
Polymorphic variants in the human mitochondrial cytochrome b gene.
Molecular genetics and metabolism 1999;67(1):49-52.
1999: Georgios M Hadjigeorgiou; S H Kim; Kenneth H Fischbeck; Antoni L Andreu; G T Berry; P Bingham; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
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: 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: M E Damore; P W Speiser; A E Slonim; M I New; S Shanske; W Xia; F M Santorelli; Salvatore DiMauro
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: Kurenai Tanji; Tuan H Vu; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
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: 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: Salvatore DiMauro; Antoni L Andreu; Eduardo Bonilla
[Mitochondrial encephalopathies: where are we going?].
Revista de neurologia 1999;28(2):164-8.
1999: Salvatore DiMauro; R Kulikova; Kurenai Tanji; Eduardo Bonilla; Michio Hirano
Mitochondrial genes for generalized epilepsies.
Advances in neurology 1999;79():411-9.
1999: Claudio Bruno; L Tamburino; N Kawashima; Antoni L Andreu; Sara Shanske; Georgios M Hadjigeorgiou; A Kawashima; Salvatore DiMauro
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(1):34-7.
1999: Antoni L Andreu; Claudio Bruno; T C Dunne; K Tanji; Sara Shanske; Carolyn M Sue; S Krishna; Georgios M Hadjigeorgiou; A Shtilbans; E Bonilla; Salvatore DiMauro
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.
1998: M E Vázquez-Memije; Sara Shanske; F M Santorelli; P Kranz-Eble; Darryl C DeVivo; Salvatore DiMauro
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: Filippo M Santorelli; Kurenai Tanji; Sara Shanske; S Krishna; R E Schmidt; Robert Greenwood; Salvatore DiMauro; Darryl C De Vivo
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: 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: M Sciacco; P Gasparo-Rippa; Tuan H Vu; Kurenai Tanji; Sara Shanske; Jerry R Mendell; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Muscle & nerve 1998;21(11):1374-81.
1998: Salvatore DiMauro; Claudio Bruno
Glycogen storage diseases of muscle.
Current opinion in neurology 1998;11(5):477-84.
1998: Sidney M Gospe; M el-Schahawi; Sara Shanske; Claudio Bruno; Salvatore DiMauro; Elaine Hoye; Donal A Walsh; Fredric A Gorin
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
Neurology 1998;51(4):1228-9.
1998: Tuan H Vu; Kurenai Tanji; H Valsamis; Salvatore DiMauro; Eduardo Bonilla
Mitochondrial DNA depletion in a patient with long survival.
Neurology 1998;51(4):1190-3.
1998: Claudio Bruno; Giovanni Manfredi; Antoni L Andreu; Sara Shanske; Sindu Krishna; W K Ilse; Salvatore DiMauro
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: 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: Antoni L Andreu; Claudio Bruno; Josep Gamez; Sara Shanske; Carlos Cervera; Carmen Navarro; MA Arbos; L Tamburino; Simón Schwartz; Salvatore DiMauro
Molecular genetic analysis of McArdle's disease in Spanish patients.
Neurology 1998;51(1):260-2.
1998: Tuan H Vu; M Sciacco; Kurenai Tanji; C Nichter; Eduardo Bonilla; S Chatkupt; P Maertens; Sara Shanske; Jerry R Mendell; MR Koenigsberger; Leroy R Sharer; Eric A Schon; Salvatore DiMauro; Darryl C DeVivo
Clinical manifestations of mitochondrial DNA depletion.
Neurology 1998;50(6):1783-90.
1998: Salvatore DiMauro; M Hirano
Mitochondria and heart disease.
Current opinion in cardiology 1998;13(3):190-7.
1998: Claudio Bruno; Carlo Minetti; Y Tang; P J Magalhães; Filippo M Santorelli; Sara Shanske; Massimo Bado; Giuseppe Cordone; R Gatti; Salvatore DiMauro
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
1998: Claudio Bruno; Carlo Minetti; Sara Shanske; GIUSEPPE MORREALE; Massimo Bado; Giuseppe Cordone; Salvatore DiMauro
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology 1998;50(1):296-8.
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: Salvatore DiMauro; Kurenai Tanji
Mitochondrial disorders.
The Japanese journal of human genetics 1997;42(4):473-87.
1997: Sara Shanske; Salvatore DiMauro
Diagnosis of the mitochondrial encephalomyopathies.
Current opinion in rheumatology 1997;9(6):496-503.
1997: Roser Pons; R Carrozzo; Ingrid Tein; Winsome F Walker; Linda J Addonizio; William J Rhead; Armand F Miranda; Salvatore DiMauro; Darryl C De Vivo
Deficient muscle carnitine transport in primary carnitine deficiency.
Pediatric research 1997;42(5):583-7.
1997: Filippo M Santorelli; Kurenai Tanji; R Kulikova; Sara Shanske; L Vilarinho; A P Hays; Salvatore DiMauro
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
Biochemical and biophysical research communications 1997;238(2):326-8.
1997: P Kaufmann; M el-Schahawi; Salvatore DiMauro
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.
Molecular and cellular biochemistry 1997;174(1-2):237-9.
1997: F M Santorelli; K Tanji; Mary Sano; Sara Shanske; M El-Shahawi; P Kranz-Eble; Salvatore DiMauro; Darryl C De Vivo
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
Annals of neurology 1997;42(2):256-60.
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: Filippo M Santorelli; Kurenai Tanji; Sara Shanske; Salvatore DiMauro
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Neurology 1997;49(1):270-3.
1997: Filippo M Santorelli; Gabriele Siciliano; C Casali; M G Basirico; R Carrozzo; F Calvosa; Ferdinando Sartucci; Luca Bonfiglio; Luigi Murri; Salvatore DiMauro
Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
Neuromuscular disorders : NMD 1997;7(3):156-9.
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: Eric A Schon; Eduardo Bonilla; Salvatore DiMauro
Mitochondrial DNA mutations and pathogenesis.
Journal of bioenergetics and biomembranes 1997;29(2):131-49.
1997: M el-Schahawi; Claudio Bruno; S Tsujino; A M Sarrazin; Sara Shanske; M G LeRoux; Salvatore DiMauro
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.
Neuromuscular disorders : NMD 1997;7(2):81-3.
1997: M el-Schahawi; A López de Munain; A M Sarrazin; Alan L Shanske; M Basirico; Sara Shanske; Salvatore DiMauro
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: Filippo M Santorelli; M A Barmada; R Pons; L L Zhang; Salvatore DiMauro
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion.
Neurology 1996;47(5):1320-3.
1996: R Pons; F Andreetta; C H Wang; T H Vu; E Bonilla; Salvatore DiMauro; Darryl C De Vivo
Mitochondrial myopathy simulating spinal muscular atrophy.
Pediatric neurology 1996;15(2):153-8.
1996: Filippo M Santorelli; J S Schlessel; A E Slonim; Salvatore DiMauro
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.
Pediatric neurology 1996;15(2):145-9.
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.
1996: M el-Schahawi; S Tsujino; Sara Shanske; Salvatore DiMauro
Diagnosis of McArdle's disease by molecular genetic analysis of blood.
Neurology 1996;47(2):579-80.
1996: Filippo M Santorelli; M Sciacco; Kurenai Tanji; Sara Shanske; Tuan H Vu; V Golzi; R C Griggs; J R Mendell; Arthur P Hays; T E Bertorini; A Pestronk; Eduardo Bonilla; Salvatore DiMauro
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
Annals of neurology 1996;39(6):789-95.
1996: Filippo M Santorelli; S C Mak; M E Vazquez-Memije; Sara Shanske; P Kranz-Eble; K D Jain; D L Bluestone; Darryl C De Vivo; Salvatore DiMauro
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Pediatric research 1996;39(5):914-7.
1996: Filippo M Santorelli; S C Mak; M el-Schahawi; Carlo Casali; Sara Shanske; T Z Baram; R E Madrid; Salvatore DiMauro
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: Salvatore DiMauro
Mitochondrial encephalomyopathies: what next?
Journal of inherited metabolic disease 1996;19(4):489-503.
1996: S Tsujino; Sara Shanske; Stephanie J Valberg; G H Cardinet; Bradford P Smith; Salvatore DiMauro
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: M E Vazquez-Memije; Sara Shanske; Filippo M Santorelli; P Kranz-Eble; E Davidson; Darryl C DeVivo; Salvatore DiMauro
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Journal of inherited metabolic disease 1996;19(1):43-50.
1996: Giovanni Manfredi; Eric A Schon; Eduardo Bonilla; Carlos T Moraes; Sara Shanske; Salvatore DiMauro
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
Human mutation 1996;7(2):158-63.
1995: Filippo M Santorelli; S C Mak; M Vàzquez-Acevedo; A González-Astiazarán; C Ridaura-Sanz; Diego Gonzalez-Halphen; Salvatore DiMauro
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.
Biochemical and biophysical research communications 1995;216(3):835-40.
1995: Dominic Thyagarajan; Sara Shanske; M Vazquez-Memije; Darryl C De Vivo; Salvatore DiMauro
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
Annals of neurology 1995;38(3):468-72.
1995: Giovanni Manfredi; Eric A Schon; Carlos T Moraes; Eduardo Bonilla; G T Berry; J T Sladky; Salvatore DiMauro
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
Neuromuscular disorders : NMD 1995;5(5):391-8.
1995: S Angelos; Stephanie J Valberg; Bradford P Smith; P S McQuarrie; Sara Shanske; S Tsujino; Salvatore DiMauro; G H Cardinet
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle.
Muscle & nerve 1995;18(7):736-40.
1995: S Tsujino; Sara Shanske; James E Carroll; R L Sabina; Salvatore DiMauro
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: Huiling Hao; Eduardo Bonilla; Giovanni Manfredi; Salvatore DiMauro; Carlos T Moraes
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: Giovanni Manfredi; S Servidei; Eduardo Bonilla; Sara Shanske; Eric A Schon; Salvatore DiMauro; Carlos T Moraes
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: M Sparaco; E A Schon; Salvatore DiMauro; Eduardo Bonilla
Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain.
Brain pathology (Zurich, Switzerland) 1995;5(2):125-33.
1995: Carlos T Moraes; E Ricci; Eric A Schon; M Sciacco; Célia H Tengan; Eduardo Bonilla; H Hao; Salvatore DiMauro
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve. Supplement 1995;(3):S150-3.
1995: S Tsujino; S Sakoda; Sara Shanske; A Toscano; Salvatore DiMauro
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve. Supplement 1995;(3):S50-3.
1995: S Tsujino; Sara Shanske; Salvatore DiMauro
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve. Supplement 1995;(3):S45-9.
1995: S Tsujino; I Nonaka; Sara Shanske; Salvatore DiMauro
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve. Supplement 1995;(3):S23-7.
1995: Salvatore DiMauro; Sara Shanske; S Tsujino; Lewis P Rowland
Biochemistry and molecular genetics of human glycogenoses: an overview.
Muscle & nerve. Supplement 1995;(3):S10-7.
1995: S Tsujino; Sara Shanske; A Martinuzzi; Terry D Heiman-Patterson; Salvatore DiMauro
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Human mutation 1995;6(3):276-7.
1995: S Tsujino; Sara Shanske; S Sakoda; A Toscano; Salvatore DiMauro
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve. Supplement 1995;3():S50-3.
1995: S Tsujino; Sara Shanske; Salvatore DiMauro
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve. Supplement 1995;3():S45-9.
1995: S Tsujino; Sara Shanske; I Nonaka; Salvatore DiMauro
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve. Supplement 1995;3():S23-7.
1995: Carlos T Moraes; M Sciacco; E Ricci; Célia H Tengan; H Hao; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve. Supplement 1995;3():S150-3.
1995: Salvatore DiMauro; S Tsujino; Sara Shanske; Lewis P Rowland
Biochemistry and molecular genetics of human glycogenoses: an overview.
Muscle & nerve. Supplement 1995;3():S10-7.
1994: S Tsujino; Sara Shanske; A K Brownell; R G Haller; Salvatore DiMauro
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
Annals of neurology 1994;36(4):661-5.
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: S Tsujino; Sara Shanske; Y Goto; I Nonaka; Salvatore DiMauro
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
Human molecular genetics 1994;3(6):1005-6.
1994: Filippo M Santorelli; Sara Shanske; K D Jain; D Tick; Eric A Schon; Salvatore DiMauro
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Neurology 1994;44(5):972-4.
1994: M J Szabolcs; R Seigle; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro; V D'Agati
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy.
Kidney international 1994;45(5):1388-96.
1994: S Tsujino; S Servidei; P Tonin; Sara Shanske; G Azan; Salvatore DiMauro
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: D A Wilkinson; P Tonin; Sara Shanske; A Lombes; G M Carlson; Salvatore DiMauro
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.
Neurology 1994;44(3 Pt 1):461-6.
1994: S Tsujino; P Tonin; Sara Shanske; V Nohria; Rose-Mary N Boustany; D Lewis; Y T Chen; Salvatore DiMauro
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: Stephanie J Valberg; Gary P Carlson; G H Cardinet; E K Birks; James H Jones; A Chomyn; Salvatore DiMauro
Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse.
Muscle & nerve 1994;17(3):305-12.
1994: V Petruzzella; Carlos T Moraes; Mary Sano; Eduardo Bonilla; Salvatore DiMauro; Eric A Schon
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: S Tsujino; Sara Shanske; I Nonaka; Y Eto; J R Mendell; G M Fenichel; Salvatore DiMauro
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
American journal of human genetics 1994;54(1):44-52.
1994: M Sciacco; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro; Carlos T Moraes
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: S Tsujino; L A Rubin; Sara Shanske; Salvatore DiMauro
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: G Silvestri; Filippo M Santorelli; Sara Shanske; Chester Whitley; L A Schimmenti; S A Smith; Salvatore DiMauro
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
Human mutation 1994;3(1):37-43.
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: Filippo M Santorelli; Sara Shanske; A Macaya; Darryl C DeVivo; Salvatore DiMauro
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: Salvatore DiMauro; Carlos T Moraes
Mitochondrial encephalomyopathies.
Archives of neurology 1993;50(11):1197-208.
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: Carlo Minetti; Kurenai Tanji; H W Chang; R Medori; Giuseppe Cordone; Salvatore DiMauro; Eduardo Bonilla
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.
European journal of pediatrics 1993;152(10):848-51.
1993: S Tsujino; Sara Shanske; Salvatore DiMauro
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
The New England journal of medicine 1993;329(4):241-5.
1993: Carlos T Moraes; F Ciacci; Eduardo Bonilla; V Ionasescu; Eric A Schon; Salvatore DiMauro
A mitochondrial tRNA anticodon swap associated with a muscle disease.
Nature genetics 1993;4(3):284-8.
1993: G Silvestri; E Ciafaloni; Filippo M Santorelli; Sara Shanske; S Servidei; W D Graf; M Sumi; Salvatore DiMauro
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
Neurology 1993;43(6):1200-6.
1993: T D McDonald; P L Faust; C Bruno; Salvatore DiMauro; J E Goldman
Polyglucosan body disease simulating amyotrophic lateral sclerosis.
Neurology 1993;43(4):785-90.
1993: S Tsujino; Sara Shanske; S Sakoda; G Fenichel; Salvatore DiMauro
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
American journal of human genetics 1993;52(3):472-7.
1993: E Ciafaloni; Filippo M Santorelli; Sara Shanske; T Deonna; Eliane Roulet; C Janzer; G Pescia; Salvatore DiMauro
Maternally inherited Leigh syndrome.
The Journal of pediatrics 1993;122(3):419-22.
1993: P Tonin; Sara Shanske; Armand F Miranda; A K Brownell; J P Wyse; S Tsujino; Salvatore DiMauro
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
Neurology 1993;43(2):387-91.
1993: M Sparaco; Eduardo Bonilla; Salvatore DiMauro; J M Powers
Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.
Journal of neuropathology and experimental neurology 1993;52(1):1-10.
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.
1993: M Sparaco; Gorazd Rosoklija; Kurenai Tanji; M Sciacco; Norman Latov; Salvatore DiMauro; Eduardo Bonilla
Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies.
Neuromuscular disorders : NMD 1993;3(1):71-6.
1992: S Simonetti; X Chen; Salvatore DiMauro; Eric A Schon
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR.
Biochimica et biophysica acta 1992;1180(2):113-22.
1992: G Silvestri; Carlos T Moraes; Sara Shanske; S J Oh; Salvatore DiMauro
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: A Suomalainen; E Ciafaloni; Y Koga; L Peltonen; Salvatore DiMauro; Eric A Schon
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: Carlos T Moraes; E Ricci; V Petruzzella; Sara Shanske; Salvatore DiMauro; Eric A Schon; Eduardo Bonilla
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nature genetics 1992;1(5):359-67.
1992: Carlos T Moraes; E Ricci; Eduardo Bonilla; Salvatore DiMauro; Eric A Schon
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: Salvatore DiMauro
Mitochondrial encephalomyopathies.
Brain pathology (Zurich, Switzerland) 1992;2(2):111-2.
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.
1992: Stephanie J Valberg; G H Cardinet; Gary P Carlson; Salvatore DiMauro
Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses.
Neuromuscular disorders : NMD 1992;2(5-6):351-9.
1991: Carlos T Moraes; M Zeviani; Eric A Schon; R O Hickman; B W Vlcek; Salvatore DiMauro
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: E Ciafaloni; E Ricci; S Servidei; Sara Shanske; G Silvestri; G Manfredi; E A Schon; Salvatore DiMauro
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: F Andreetta; H J Tritschler; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
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: M L Zupanc; Carlos T Moraes; Sara Shanske; C B Langman; E Ciafaloni; Salvatore DiMauro
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.
Annals of neurology 1991;29(6):680-3.
1991: A Lombes; H Nakase; H J Tritschler; B Kadenbach; Eduardo Bonilla; Darryl C DeVivo; Eric A Schon; Salvatore DiMauro
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
Neurology 1991;41(4):491-8.
1991: E Arnaudo; M Dalakas; Sara Shanske; Carlos T Moraes; Salvatore DiMauro; Eric A Schon
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.
Lancet 1991;337(8740):508-10.
1991: Carlos T Moraes; Sara Shanske; H J Tritschler; June Aprille; F Andreetta; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
American journal of human genetics 1991;48(3):492-501.
1991: Carlos T Moraes; F Andreetta; Eduardo Bonilla; Sara Shanske; Salvatore DiMauro; Eric A Schon
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
Molecular and cellular biology 1991;11(3):1631-7.
1991: H J Tritschler; Eduardo Bonilla; A Lombes; F Andreetta; S Servidei; B Schneyder; Armand F Miranda; Eric A Schon; B Kadenbach; Salvatore DiMauro
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: Salvatore DiMauro; Carlos T Moraes; Sara Shanske; A Lombes; H Nakase; S Mita; H J Tritschler; Eduardo Bonilla; Armand F Miranda; Eric A Schon
Mitochondrial encephalomyopathies: biochemical approach.
Revue neurologique 1991;147(6-7):443-9.
1990: Salvatore DiMauro; A Lombes; H Nakase; S Mita; G M Fabrizi; H J Tritschler; Eduardo Bonilla; Armand F Miranda; Darryl C DeVivo; Eric A Schon
Cytochrome c oxidase deficiency.
Pediatric research 1990;28(5):536-41.
1990: Eduardo Bonilla; DS Younger; H W Chang; U Tantravahi; Armand F Miranda; R Medori; Salvatore DiMauro; Dorothy Warburton; Lewis P Rowland
Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy.
Neurology 1990;40(8):1267-70.
1990: Salvatore DiMauro; Eduardo Bonilla; A Lombes; Sara Shanske; Carlo Minetti; Carlos T Moraes
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
1990: H Nakase; Carlos T Moraes; R Rizzuto; A Lombes; Salvatore DiMauro; Eric A Schon
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: S Mita; R Rizzuto; Carlos T Moraes; Sara Shanske; E Arnaudo; G M Fabrizi; Y Koga; Salvatore DiMauro; Eric A Schon
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: P Tonin; P Lewis; S Servidei; Salvatore DiMauro
Metabolic causes of myoglobinuria.
Annals of neurology 1990;27(2):181-5.
1990: Sara Shanske; Carlos T Moraes; A Lombes; Armand F Miranda; Eduardo Bonilla; P Lewis; M A Whelan; C A Ellsworth; Salvatore DiMauro
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
Neurology 1990;40(1):24-8.
1990: Ingrid Tein; Salvatore DiMauro; Darryl C DeVivo
Recurrent childhood myoglobinuria.
Advances in pediatrics 1990;37():77-117.
1989: S Mita; B Schmidt; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
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: R Rizzuto; H Nakase; B Darras; Uta Francke; G M Fabrizi; T Mengel; F Walsh; B Kadenbach; Salvatore DiMauro; Eric A Schon
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: Carlos T Moraes; Salvatore DiMauro; M Zeviani; A Lombes; Sara Shanske; Armand F Miranda; H Nakase; Eduardo Bonilla; L C Werneck; S Servidei
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
The New England journal of medicine 1989;320(20):1293-9.
1989: Armand F Miranda; S Ishii; Salvatore DiMauro; J W Shay
Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.
Neurology 1989;39(5):697-702.
1989: Carlos T Moraes; Eric A Schon; Salvatore DiMauro; Armand F Miranda
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
Biochemical and biophysical research communications 1989;160(2):765-71.
1989: Eric A Schon; R Rizzuto; Carlos T Moraes; H Nakase; M Zeviani; Salvatore DiMauro
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: S Servidei; Salvatore DiMauro
Disorders of glycogen metabolism of muscle.
Neurologic clinics 1989;7(1):159-78.
1989: S R Akabas; A R Bazzy; Salvatore DiMauro; G G Haddad
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: A Lombes; Eduardo Bonilla; Salvatore DiMauro
Mitochondrial encephalomyopathies.
Revue neurologique 1989;145(10):671-89.
1989: Salvatore DiMauro; M Zeviani; Carlos T Moraes; H Nakase; R Rizzuto; A Lombes; Sara Shanske; Eric A Schon
Mitochondrial encephalomyopathies.
Progress in clinical and biological research 1989;306():117-28.
1988: S Servidei; Sara Shanske; M Zeviani; Roger Lebo; Robert J Fletterick; Salvatore DiMauro
McArdle's disease: biochemical and molecular genetic studies.
Annals of neurology 1988;24(6):774-81.
1988: S Sakoda; Sara Shanske; Salvatore DiMauro; Eric A Schon
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: Eduardo Bonilla; Armand F Miranda; A Prelle; G Salviati; R Betto; M Zeviani; Eric A Schon; Salvatore DiMauro; Lewis P Rowland
Immunocytochemical study of nebulin in Duchenne muscular dystrophy.
Neurology 1988;38(10):1600-3.
1988: R Rizzuto; H Nakase; M Zeviani; Salvatore DiMauro; Eric A Schon
Subunit Va of human and bovine cytochrome c oxidase is highly conserved.
Gene 1988;69(2):245-56.
1988: M Zeviani; Carlos T Moraes; Salvatore DiMauro; H Nakase; Eduardo Bonilla; Eric A Schon; Lewis P Rowland
Deletions of mitochondrial DNA in Kearns-Sayre syndrome.
Neurology 1988;38(9):1339-46.
1988: Armand F Miranda; Eduardo Bonilla; G Martucci; Carlos T Moraes; Arthur P Hays; Salvatore DiMauro
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: Eduardo Bonilla; C E Samitt; Armand F Miranda; Arthur P Hays; G Salviati; Salvatore DiMauro; Louis Kunkel; Eric Hoffman; Lewis P Rowland
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
Cell 1988;54(4):447-52.
1988: Salvatore DiMauro; M Zeviani; R Rizzuto; A Lombes; H Nakase; Eduardo Bonilla; A Miranda; Eric A Schon
Molecular defects in cytochrome oxidase in mitochondrial diseases.
Journal of bioenergetics and biomembranes 1988;20(3):353-64.
1988: M Zeviani; S Sakoda; A A Sherbany; H Nakase; R Rizzuto; C E Samitt; Salvatore DiMauro; Eric A Schon
Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase.
Gene 1988;65(1):1-11.
1988: Eric A Schon; Eduardo Bonilla; A Lombes; Carlos T Moraes; H Nakase; R Rizzuto; M Zeviani; Salvatore DiMauro
Clinical and biochemical studies on cytochrome oxidase deficiencies.
Annals of the New York Academy of Sciences 1988;550():348-59.
1988: Salvatore DiMauro; M Zeviani; S Servidei; Alessandro Prelle; Armand F Miranda; Eduardo Bonilla; Eric A Schon
Biochemical and molecular aspects of cytochrome C oxidase deficiency.
Advances in neurology 1988;48():93-105.
1987: Sara Shanske; S Sakoda; M A Hermodson; Salvatore DiMauro; Eric A Schon
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
The Journal of biological chemistry 1987;262(30):14612-7.
1987: Salvatore DiMauro; S Servidei; M Zeviani; M DiRocco; Darryl C DeVivo; S DiDonato; Graziella Uziel; K Berry; G Hoganson; S D Johnsen
Cytochrome c oxidase deficiency in Leigh syndrome.
Annals of neurology 1987;22(4):498-506.
1987: Salvatore DiMauro; Eduardo Bonilla; M Zeviani; S Servidei; Darryl C DeVivo; Eric A Schon
Mitochondrial myopathies.
Journal of inherited metabolic disease 1987;10 Suppl 1():113-28.
1987: M Zeviani; M Nakagawa; J Herbert; Margaret I Lomax; Lawrence I Grossman; A A Sherbany; A F Miranda; Salvatore DiMauro; Eric A Schon
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase.
Gene 1987;55(2-3):205-17.
1984: S G Pavlakis; P C Phillips; Salvatore DiMauro; Darryl C De Vivo; L P Rowland
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
Annals of neurology 1984;16(4):481-8.