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Eduardo Bonilla
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96
DiMauro, Salvatore
42
Schon, Eric
41
Shanske, Sara
41
Tanji, Kurenai
34
Hirano, Michio
24
Moraes, Carlos
16
Vu, Tuan
16
Miranda, Armand
11
Minetti, Carlo
10
Hays, Arthur
10
De Vivo, Darryl
10
Andreu, Antoni
9
Rowland, Lewis
9
Sue, Carolyn
8
Sacconi, Sabrina
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All Publications
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2009: López Luis C; Akman Hasan O; García-Cazorla Angeles; Dorado Beatriz; Martí Ramón; Nishino Ichizo; Tadesse Saba; Pizzorno Giuseppe; Shungu Dikoma; Bonilla Eduardo; Tanji Kurenai; Hirano Michio
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
Human molecular genetics 2009;18(4):714-22.
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2008: Tanji Kurenai; Bonilla Eduardo
Light microscopic methods to visualize mitochondria on tissue sections.
Methods (San Diego, Calif.) 2008;46(4):274-80.
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2008: Akman Hasan O; Dorado Beatriz; López Luis C; García-Cazorla Angeles; Vilà Maya R; Tanabe Lauren M; Dauer William T; Bonilla Eduardo; Tanji Kurenai; Hirano Michio
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
Human molecular genetics 2008;17(16):2433-40.
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2008: Tanji Kurenai; Kaufmann Petra; Naini Ali B; Lu Jiesheng; Parsons Timothy C; Wang Dong; Willey Joshua Z; Shanske Sara; Hirano Michio; Bonilla Eduardo; Khandji Alexander; Dimauro Salvatore; Rowland Lewis P
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Journal of the neurological sciences 2008;270(1-2):23-7.
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2008: Van Hove Johan L K; Freehauf Cynthia; Miyamoto Shelley; Vladutiu Georgirene D; Pancrudo Jacklyn; Bonilla Eduardo; Lovell Mark A; Mierau Gary W; Thomas Janet A; Shanske Sara
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
European journal of pediatrics 2008;167(7):771-6.
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2008: Sacconi Sabrina; Salviati Leonardo; Nishigaki Yutaka; Walker Winsome F; Hernandez-Rosa Evelyn; Trevisson Eva; Delplace Severine; Desnuelle Claude; Shanske Sara; Hirano Michio; Schon Eric A; Bonilla Eduardo; De Vivo Darryl C; DiMauro Salvatore; Davidson Mercy M
A functionally dominant mitochondrial DNA mutation.
Human molecular genetics 2008;17(12):1814-20.
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2008: Shanske Sara; Coku Jorida; Lu Jiesheng; Ganesh Jaya; Krishna Sindu; Tanji Kurenai; Bonilla Eduardo; Naini Ali B; Hirano Michio; DiMauro Salvatore
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
Archives of neurology 2008;65(3):368-72.
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2008: Quinzii Catarina M; Vu Tuan H; Min K Christopher; Tanji Kurenai; Barral Sandra; Grewal Raji P; Kattah Andrea; Camaño Pilir; Otaegui David; Kunimatsu Teruhito; Blake David M; Wilhelmsen Kirk C; Rowland Lewis P; Hays Arthur P; Bonilla Eduardo; Hirano Michio
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
American journal of human genetics 2008;82(1):208-13.
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2007: Pancrudo Jacklyn; Shanske Sara; Coku Jorida; Lu J; Mardach Rebecca; Akman Orhan; Krishna Sindu; Bonilla Eduardo; DiMauro Salvatore
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Neuromuscular disorders : NMD 2007;17(8):651-4.
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2007: Pancrudo Jacklyn; Shanske Sara; Bonilla Eduardo; Daras Mariza; Akman Hasan O; Krishna Sindu; Malkin Elfrida; DiMauro Salvatore
Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
Journal of child neurology 2007;22(7):858-62.
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2007: Chae Jong Hee; Lee Jin Sook; Kim Ki Joong; Hwang Yong Seung; Bonilla Eduardo; Tanji Kurenai; Hirano Michio
A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.
Pediatric research 2007;61(5 Pt 1):622-4.
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2007: Tanji Kurenai; Bonilla Eduardo
Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria.
Methods in cell biology 2007;80():135-54.
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2006: Karadimas Charalampos L; Vu Tuan H; Holve Stephen A; Chronopoulou Penelope; Quinzii Catarina; Johnsen Stanley D; Kurth Janice; Eggers Elizabeth; Palenzuela Lluis; Tanji Kurenai; Bonilla Eduardo; De Vivo Darryl C; DiMauro Salvatore; Hirano Michio
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
American journal of human genetics 2006;79(3):544-8.
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2006: Oskoui Maryam; Davidzon Guido; Pascual Juan; Erazo Ricardo; Gurgel-Giannetti Juliana; Krishna Sindu; Bonilla Eduardo; De Vivo Darryl C; Shanske Sara; DiMauro Salvatore
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Archives of neurology 2006;63(8):1122-6.
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2005: Tay Stacey K H; Sacconi Sabrina; Akman H Ohran; Morales Judith F; Morales Augusto; De Vivo Darryl C; Shanske Sara; Bonilla Eduardo; DiMauro Salvatore
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
Journal of child neurology 2005;20(8):670-4.
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2005: Mancuso Michelangelo; Davidzon Guido; Kurlan Roger M; Tawil Rabi; Bonilla Eduardo; Di Mauro Salvatore; Powers James M
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.
Journal of neuropathology and experimental neurology 2005;64(4):280-94.
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2005: Naini Ali B; Lu Jiesheng; Kaufmann Petra; Bernstein Richard A; Mancuso Michelangelo; Bonilla Eduardo; Hirano Michio; DiMauro Salvatore
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
Archives of neurology 2005;62(3):473-6.
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2005: Tay Stacey K H; Shanske Sara; Crowe Carol; Shanske Alan; Schafer Irwin; Pancrudo Jacklyn; Lu Jiesheng; Bonilla Eduardo; DiMauro Salvatore
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
Journal of child neurology 2005;20(2):142-6.
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2005: Mancuso Michelangelo; Ferraris Silvio; Nishigaki Yutaka; Azan Gaetano; Mauro Alessandro; Sammarco Piero; Krishna Sindu; Tay Stacey K H; Bonilla Eduardo; Romansky Stephen G; Hirano Michio; DiMauro Salvatore
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
Journal of the neurological sciences 2005;228(1):93-7.
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2004: Tay Stacey K H; Nesti Claudia; Mancuso Michelangelo; Schon Eric A; Shanske Sara; Bonilla Eduardo; Davidson Mercy M; Dimauro Salvatore
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Archives of neurology 2004;61(12):1935-7.
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2004: Akman Cigdem Inan; Sue Carolyn M; Shanske Sara; Tanji Kurenai; Bonilla Eduardo; Ojaimi Joceline; Krishna Sindu; Schubert Romaine; DiMauro Salvatore
Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
Journal of child neurology 2004;19(4):258-61.
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2003: Tanji Kurenai; Bhagat Govind; Vu Tuan H; Monzon Lailani; Bonilla Eduardo; Lefkowitch Jay H
Mitochondrial DNA dysfunction in oncocytic hepatocytes.
Liver international : official journal of the International Association for the Study of the Liver 2003;23(5):397-403.
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2003: Filosto Massimiliano; Mancuso Michelangelo; Nishigaki Yutaka; Pancrudo Jacklyn; Harati Yadollah; Gooch Clifton; Mankodi Ami; Bayne Lydia; Bonilla Eduardo; Shanske Sara; Hirano Michio; DiMauro Salvatore
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Archives of neurology 2003;60(9):1279-84.
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2003: Palenzuela L; Andreu A L; Gàmez J; Vilà M R; Kunimatsu T; Meseguer A; Cervera C; Fernandez Cadenas I; van der Ven P F M; Nygaard T G; Bonilla E; Hirano M
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
Neurology 2003;61(3):404-6.
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2003: Mancuso Michelangelo; Filosto Massimiliano; Bonilla Eduardo; Hirano Michio; Shanske Sara; Vu Tuan H; DiMauro Salvatore
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
Archives of neurology 2003;60(7):1007-9.
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2003: Nishigaki Yutaka; Tadesse Saba; Bonilla Eduardo; Shungu Dikoma; Hersh Stephen; Keats Bronya J B; Berlin Charles I; Goldberg Morton F; Vockley Jerry; DiMauro Salvatore; Hirano Michio
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.
Neuromuscular disorders : NMD 2003;13(4):334-40.
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2003: Vilà M R; Segovia-Silvestre T; Gámez J; Marina A; Naini A B; Meseguer A; Lombès A; Bonilla E; DiMauro S; Hirano M; Andreu A L
Reversion of mtDNA depletion in a patient with TK2 deficiency.
Neurology 2003;60(7):1203-5.
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2003: Sacconi Sabrina; Salviati Leonardo; Sue Carolyn M; Shanske Sara; Davidson Mercy M; Bonilla Eduardo; Naini Ali B; De Vivo Darryl C; DiMauro Salvatore
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatric research 2003;53(2):224-30.
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2003: Tanji Kurenai; Gamez Josep; Cervera Carles; Mearin Fermin; Ortega Arantxa; de la Torre Javier; Montoya Julio; Andreu Antoni L; DiMauro Salvatore; Bonilla Eduardo
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
Acta neuropathologica 2003;105(1):69-75.
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2002: DiMauro Salvatore; Tanji Kurenai; Bonilla Eduardo; Pallotti Francesco; Schon Eric A
Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.
Muscle & nerve 2002;26(5):597-607.
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2002: Karadimas Charalampos L; Salviati Leonardo; Sacconi Sabrina; Chronopoulou Penelope; Shanske Sara; Bonilla Eduardo; De Vivo Darryl C; DiMauro Salvatore
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
Neuromuscular disorders : NMD 2002;12(9):865-8.
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2002: Mancuso M; Salviati L; Sacconi S; Otaegui D; Camaño P; Marina A; Bacman S; Moraes C T; Carlo J R; Garcia M; Garcia-Alvarez M; Monzon L; Naini A B; Hirano M; Bonilla E; Taratuto A L; DiMauro S; Vu T H
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
Neurology 2002;59(8):1197-202.
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2002: Salviati Leonardo; Sacconi Sabrina; Mancuso Michelangelo; Otaegui David; Camaño Pilar; Marina Alberto; Rabinowitz Simon; Shiffman Rebecca; Thompson Karen; Wilson Claire M; Feigenbaum Annette; Naini Ali B; Hirano Michio; Bonilla Eduardo; DiMauro Salvatore; Vu Tuan H
Mitochondrial DNA depletion and dGK gene mutations.
Annals of neurology 2002;52(3):311-7.
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2002: Shanske Sara; Tang Yingying; Hirano Michio; Nishigaki Yutaka; Tanji Kurenai; Bonilla Eduardo; Sue Carolyn; Krishna Sindu; Carlo Jose R; Willner Judith; Schon Eric A; DiMauro Salvatore
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.
American journal of human genetics 2002;71(3):679-83.
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2002: Sacconi Sabrina; Salviati Leonardo; Gooch Clifton; Bonilla Eduardo; Shanske Sara; DiMauro Salvatore
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Archives of neurology 2002;59(6):1013-5.
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2002: Salviati Leonardo; Sacconi Sabrina; Rasalan Minerva M; Kronn David F; Braun Alex; Canoll Peter; Davidson Mercy; Shanske Sara; Bonilla Eduardo; Hays Arthur P; Schon Eric A; DiMauro Salvatore
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Archives of neurology 2002;59(5):862-5.
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2002: Nishigaki Y; Bonilla E; Shanske S; Gaskin D A; DiMauro S; Hirano M
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
Neurology 2002;58(8):1282-5.
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2002: DiMauro Salvatore; Hirano Michio; Kaufmann Petra; Tanji Kurenai; Sano Mary; Shungu Dikoma C; Bonilla Eduardo; DeVivo Darryl C
Clinical features and genetics of myoclonic epilepsy with ragged red fibers.
Advances in neurology 2002;89():217-29.
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2001: Tanji K; Kunimatsu T; Vu T H; Bonilla E
Neuropathological features of mitochondrial disorders.
Seminars in cell & developmental biology 2001;12(6):429-39.
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2001: DiMauro S; Andreu A L; Musumeci O; Bonilla E
Diseases of oxidative phosphorylation due to mtDNA mutations.
Seminars in neurology 2001;21(3):251-60.
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2001: Karadimas C; Tanji K; Geremek M; Chronopoulou P; Vu T; Krishna S; Sue C M; Shanske S; Bonilla E; DiMauro S; Lipson M; Bachman R
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
Journal of child neurology 2001;16(7):531-3.
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2001: Vu T H; Hays A P; Tanji K; Younger D; Gundersen G G; Eastwood A; Braun C W; DiMauro S; Bonilla E
Myopathy with tubulin-reactive crystalline inclusions.
Neurology 2001;57(1):149-52.
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2001: Vu T H; Tanji K; Holve S A; Bonilla E; Sokol R J; Snyder R D; Fiore S; Deutsch G H; Dimauro S; De Vivo D
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
Hepatology (Baltimore, Md.) 2001;34(1):116-20.
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2001: Tanji K; Bonilla E
Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria.
Methods in cell biology 2001;65():311-32.
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2000: Tanji K; Schon E A; DiMauro S; Bonilla E
Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium.
Journal of the neurological sciences 2000;178(1):29-36.
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2000: Karadimas C L; Greenstein P; Sue C M; Joseph J T; Tanji K; Haller R G; Taivassalo T; Davidson M M; Shanske S; Bonilla E; DiMauro S
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
Neurology 2000;55(5):644-9.
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2000: Tanji K; Bonilla E
Neuropathologic aspects of cytochrome C oxidase deficiency.
Brain pathology (Zurich, Switzerland) 2000;10(3):422-30.
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2000: Nishino I; Spinazzola A; Papadimitriou A; Hammans S; Steiner I; Hahn C D; Connolly A M; Verloes A; Guimarães J; Maillard I; Hamano H; Donati M A; Semrad C E; Russell J A; Andreu A L; Hadjigeorgiou G M; Vu T H; Tadesse S; Nygaard T G; Nonaka I; Hirano I; Bonilla E; Rowland L P; DiMauro S; Hirano M
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Annals of neurology 2000;47(6):792-800.
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2000: Sue C M; Karadimas C; Checcarelli N; Tanji K; Papadopoulou L C; Pallotti F; Guo F L; Shanske S; Hirano M; De Vivo D C; Van Coster R; Kaplan P; Bonilla E; DiMauro S
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Annals of neurology 2000;47(5):589-95.
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2000: Vu T H; Tanji K; Pallotti F; Golzi V; Hirano M; DiMauro S; Bonilla E
Analysis of mtDNA deletions in muscle by in situ hybridization.
Muscle & nerve 2000;23(1):80-5.
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1999: DiMauro S; Bonilla E; De Vivo D C
Does the patient have a mitochondrial encephalomyopathy?
Journal of child neurology 1999;14 Suppl 1():S23-35.
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1999: Papadopoulou L C; Sue C M; Davidson M M; Tanji K; Nishino I; Sadlock J E; Krishna S; Walker W; Selby J; Glerum D M; Coster R V; Lyon G; Scalais E; Lebel R; Kaplan P; Shanske S; De Vivo D C; Bonilla E; Hirano M; DiMauro S; Schon E A
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics 1999;23(3):333-7.
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1999: Andreu A L; Hanna M G; Reichmann H; Bruno C; Penn A S; Tanji K; Pallotti F; Iwata S; Bonilla E; Lach B; Morgan-Hughes J; DiMauro S
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
The New England journal of medicine 1999;341(14):1037-44.
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1999: Bruno C; Martinuzzi A; Tang Y; Andreu A L; Pallotti F; Bonilla E; Shanske S; Fu J; Sue C M; Angelini C; DiMauro S; Manfredi G
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
American journal of human genetics 1999;65(3):611-20.
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1999: Tanji K; DiMauro S; Bonilla E
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome.
Journal of the neurological sciences 1999;166(1):64-70.
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1999: Sue C M; Tanji K; Hadjigeorgiou G; Andreu A L; Nishino I; Krishna S; Bruno C; Hirano M; Shanske S; Bonilla E; Fischel-Ghodsian N; DiMauro S; Friedman R
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Neurology 1999;52(9):1905-8.
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1999: Hadjigeorgiou G M; Kim S H; Fischbeck K H; Andreu A L; Berry G T; Bingham P; Shanske S; Bonilla E; DiMauro S
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.
Journal of the neurological sciences 1999;164(2):153-7.
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1999: Tanji K; Vu T H; Schon E A; DiMauro S; Bonilla E
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.
Annals of neurology 1999;45(3):377-83.
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1999: Bonilla E; Tanji K; Hirano M; Vu T H; DiMauro S; Schon E A
Mitochondrial involvement in Alzheimer's disease.
Biochimica et biophysica acta 1999;1410(2):171-82.
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1999: DiMauro S; Andreu A L; Bonilla E
[Mitochondrial encephalopathies: where are we going?]
Revista de neurologia 1999;28(2):164-8.
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1999: DiMauro S; Kulikova R; Tanji K; Bonilla E; Hirano M
Mitochondrial genes for generalized epilepsies.
Advances in neurology 1999;79():411-9.
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1998: Sciacco M; Gasparo-Rippa P; Vu T H; Tanji K; Shanske S; Mendell J R; Schon E A; DiMauro S; Bonilla E
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Muscle & nerve 1998;21(11):1374-81.
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1998: Vu T H; Tanji K; Valsamis H; DiMauro S; Bonilla E
Mitochondrial DNA depletion in a patient with long survival.
Neurology 1998;51(4):1190-3.
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1998: DiMauro S; Bonilla E; Davidson M; Hirano M; Schon E A
Mitochondria in neuromuscular disorders.
Biochimica et biophysica acta 1998;1366(1-2):199-210.
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1998: Vu T H; Sciacco M; Tanji K; Nichter C; Bonilla E; Chatkupt S; Maertens P; Shanske S; Mendell J; Koenigsberger M R; Sharer L; Schon E A; DiMauro S; DeVivo D C
Clinical manifestations of mitochondrial DNA depletion.
Neurology 1998;50(6):1783-90.
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1998: Carrozzo R; Hirano M; Fromenty B; Casali C; Santorelli F M; Bonilla E; DiMauro S; Schon E A; Miranda A F
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
Neurology 1998;50(1):99-106.
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1998: Bonilla E; Tanji K
Ultrastructural alterations in encephalomyopathies of mitochondrial origin.
BioFactors (Oxford, England) 1998;7(3):231-6.
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1997: Manfredi G; Vu T; Bonilla E; Schon E A; DiMauro S; Arnaudo E; Zhang L; Rowland L P; Hirano M
Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?
Annals of neurology 1997;42(2):180-8.
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1997: Sobreira C; Hirano M; Shanske S; Keller R K; Haller R G; Davidson E; Santorelli F M; Miranda A F; Bonilla E; Mojon D S; Barreira A A; King M P; DiMauro S
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
Neurology 1997;48(5):1238-43.
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1997: Schon E A; Bonilla E; DiMauro S
Mitochondrial DNA mutations and pathogenesis.
Journal of bioenergetics and biomembranes 1997;29(2):131-49.
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1996: Pallotti F; Chen X; Bonilla E; Schon E A
Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.
American journal of human genetics 1996;59(3):591-602.
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1996: Santorelli F M; Sciacco M; Tanji K; Shanske S; Vu T H; Golzi V; Griggs R C; Mendell J R; Hays A P; Bertorini T E; Pestronk A; Bonilla E; DiMauro S
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
Annals of neurology 1996;39(6):789-95.
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1996: Minetti C; Hirano M; Morreale G; Pedemonte M; Cordone G; Hays A P; Bonilla E
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments.
Muscle & nerve 1996;19(1):94-6.
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1996: Sciacco M; Bonilla E
Cytochemistry and immunocytochemistry of mitochondria in tissue sections.
Methods in enzymology 1996;264():509-21.
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1996: Manfredi G; Schon E A; Bonilla E; Moraes C T; Shanske S; DiMauro S
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
Human mutation 1996;7(2):158-63.
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1995: Manfredi G; Schon E A; Moraes C T; Bonilla E; Berry G T; Sladky J T; DiMauro S
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
Neuromuscular disorders : NMD 1995;5(5):391-8.
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1995: Hao H; Bonilla E; Manfredi G; DiMauro S; Moraes C T
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
American journal of human genetics 1995;56(5):1017-25.
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1995: Chen X; Bonilla E; Sciacco M; Schon E A
Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients.
Biochimica et biophysica acta 1995;1271(1):229-33.
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1995: Manfredi G; Servidei S; Bonilla E; Shanske S; Schon E A; DiMauro S; Moraes C T
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.
Neurology 1995;45(4):762-8.
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1995: Sparaco M; Schon E A; DiMauro S; Bonilla E
Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain.
Brain pathology (Zurich, Switzerland) 1995;5(2):125-33.
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1995: Moraes C T; Sciacco M; Ricci E; Tengan C H; Hao H; Bonilla E; Schon E A; DiMauro S
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve 1995;3():S150-3.
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1994: Minetti C; Tanji K; Rippa P G; Morreale G; Cordone G; Bonilla E
Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy.
Neurology 1994;44(6):1149-53.
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1994: Szabolcs M J; Seigle R; Shanske S; Bonilla E; DiMauro S; D'Agati V
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy.
Kidney international 1994;45(5):1388-96.
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1994: Hirano M; Silvestri G; Blake D M; Lombes A; Minetti C; Bonilla E; Hays A P; Lovelace R E; Butler I; Bertorini T E
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
Neurology 1994;44(4):721-7.
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1994: Petruzzella V; Moraes C T; Sano M C; Bonilla E; DiMauro S; Schon E A
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
Human molecular genetics 1994;3(3):449-54.
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1994: Sciacco M; Bonilla E; Schon E A; DiMauro S; Moraes C T
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.
Human molecular genetics 1994;3(1):13-9.
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1993: Moraes C T; Ciacci F; Bonilla E; Jansen C; Hirano M; Rao N; Lovelace R E; Rowland L P; Schon E A; DiMauro S
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
The Journal of clinical investigation 1993;92(6):2906-15.
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1993: Sparaco M; Hirano A; Hirano M; DiMauro S; Bonilla E
Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study.
Brain pathology (Zurich, Switzerland) 1993;3(4):349-54.
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1993: Minetti C; Tanji K; Chang H W; Medori R; Cordone G; DiMauro S; Bonilla E
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.
European journal of pediatrics 1993;152(10):848-51.
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1993: Moraes C T; Ciacci F; Bonilla E; Ionasescu V; Schon E A; DiMauro S
A mitochondrial tRNA anticodon swap associated with a muscle disease.
Nature genetics 1993;4(3):284-8.
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1993: Sparaco M; Bonilla E; DiMauro S; Powers J M
Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.
Journal of neuropathology and experimental neurology 1993;52(1):1-10.
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1993: Moraes C T; Ciacci F; Silvestri G; Shanske S; Sciacco M; Hirano M; Schon E A; Bonilla E; DiMauro S
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.
Neuromuscular disorders : NMD 1993;3(1):43-50.
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1993: Sparaco M; Rosoklija G; Tanji K; Sciacco M; Latov N; DiMauro S; Bonilla E
Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies.
Neuromuscular disorders : NMD 1993;3(1):71-6.
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1992: Minetti C; Tanji K; Bonilla E
Immunologic study of vinculin in Duchenne muscular dystrophy.
Neurology 1992;42(9):1751-4.
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1992: Moraes C T; Ricci E; Petruzzella V; Shanske S; DiMauro S; Schon E A; Bonilla E
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nature genetics 1992;1(5):359-67.
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1992: Moraes C T; Ricci E; Bonilla E; DiMauro S; Schon E A
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
American journal of human genetics 1992;50(5):934-49.
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1992: Bonilla E; Sciacco M; Tanji K; Sparaco M; Petruzzella V; Moraes C T
New morphological approaches to the study of mitochondrial encephalomyopathies.
Brain pathology (Zurich, Switzerland) 1992;2(2):113-9.
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1992: Tritschler H J; Andreetta F; Moraes C T; Bonilla E; Arnaudo E; Danon M J; Glass S; Zelaya B M; Vamos E; Telerman-Toppet N
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.
Neurology 1992;42(1):209-17.
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1992: Minetti C; Beltrame F; Marcenaro G; Bonilla E
Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization.
Neuromuscular disorders : NMD 1992;2(2):99-109.
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1991: Minetti C; Ricci E; Bonilla E
Progressive depletion of fast alpha-actinin-positive muscle fibers in Duchenne muscular dystrophy.
Neurology 1991;41(12):1977-81.
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1991: Andreetta F; Tritschler H J; Schon E A; DiMauro S; Bonilla E
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies.
Journal of the neurological sciences 1991;105(1):88-92.
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1991: Minetti C; Chang H W; Medori R; Prelle A; Moggio M; Johnsen S D; Bonilla E
Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype.
Neurology 1991;41(8):1288-92.
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1991: Lombes A; Nakase H; Tritschler H J; Kadenbach B; Bonilla E; DeVivo D C; Schon E A; DiMauro S
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
Neurology 1991;41(4):491-8.
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1991: Moraes C T; Shanske S; Tritschler H J; Aprille J R; Andreetta F; Bonilla E; Schon E A; DiMauro S
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
American journal of human genetics 1991;48(3):492-501.
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1991: Moraes C T; Andreetta F; Bonilla E; Shanske S; DiMauro S; Schon E A
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
Molecular and cellular biology 1991;11(3):1631-7.
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1991: Bonilla E; Minetti C; Chang H W; Medori R; Cordone G; Di Mauro S
[Clinical,manifestations of the myopathies due to deletions/mutations of the dystrophin gene]
Minerva pediatrica 1991;43(3):67-70.
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1991: Tritschler H J; Bonilla E; Lombes A; Andreetta F; Servidei S; Schneyder B; Miranda A F; Schon E A; Kadenbach B; DiMauro S
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.
Neurology 1991;41(2 ( Pt 1)):300-5.
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1991: McDonald T D; Medori R; Younger D S; Chang H W; Minetti C; Uncini A; Bonilla E; Hays A P; Lovelace R E
Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy.
Neuromuscular disorders : NMD 1991;1(3):195-200.
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1991: Dimauro S; Moraes C T; Shanske S; Lombes A; Nakase H; Mita S; Tritschler H J; Bonilla E; Miranda A F; Schon E A
Mitochondrial encephalomyopathies: biochemical approach.
Revue neurologique 1991;147(6-7):443-9.
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1990: DiMauro S; Lombes A; Nakase H; Mita S; Fabrizi G M; Tritschler H J; Bonilla E; Miranda A F; DeVivo D C; Schon E A
Cytochrome c oxidase deficiency.
Pediatric research 1990;28(5):536-41.
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1990: Bonilla E; Younger D S; Chang H W; Tantravahi U; Miranda A F; Medori R; DiMauro S; Warburton D; Rowland L P
Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy.
Neurology 1990;40(8):1267-70.
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1990: DiMauro S; Bonilla E; Lombes A; Shanske S; Minetti C; Moraes C T
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
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1990: Samitt C E; Bonilla E
Immunocytochemical study of dystrophin at the myotendinous junction.
Muscle & nerve 1990;13(6):493-500.
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1990: Shanske S; Moraes C T; Lombes A; Miranda A F; Bonilla E; Lewis P; Whelan M A; Ellsworth C A; DiMauro S
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
Neurology 1990;40(1):24-8.
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1990: Miranda A F; Mongini T; Bonilla E; Miller A D; Wright W E
Myogenic conversion of human non-muscle cells for the diagnosis and therapy of neuromuscular diseases.
Advances in experimental medicine and biology 1990;280():205-10.
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1989: Mita S; Schmidt B; Schon E A; DiMauro S; Bonilla E
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(23):9509-13.
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1989: Chang H W; Bock E; Bonilla E
Dystrophin in electric organ of Torpedo californica homologous to that in human muscle.
The Journal of biological chemistry 1989;264(35):20831-4.
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1989: Lombes A; Mendell J R; Nakase H; Barohn R J; Bonilla E; Zeviani M; Yates A J; Omerza J; Gales T L; Nakahara K
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.
Annals of neurology 1989;26(1):20-33.
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1989: Moraes C T; DiMauro S; Zeviani M; Lombes A; Shanske S; Miranda A F; Nakase H; Bonilla E; Werneck L C; Servidei S
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
The New England journal of medicine 1989;320(20):1293-9.
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1989: Miranda A F; Francke U; Bonilla E; Martucci G; Schmidt B; Salviati G; Rubin M
Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy.
American journal of medical genetics 1989;32(2):268-73.
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1989: Zeviani M; Bonilla E; DeVivo D C; DiMauro S
Mitochondrial diseases.
Neurologic clinics 1989;7(1):123-56.
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1989: Lombes A; Bonilla E; Dimauro S
Mitochondrial encephalomyopathies.
Revue neurologique 1989;145(10):671-89.
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1988: Bonilla E; Schmidt B; Samitt C E; Miranda A F; Hays A P; de Oliveira A B; Chang H W; Servidei S; Ricci E; Younger D S
Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.
The American journal of pathology 1988;133(3):440-5.
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1988: Bonilla E; Miranda A F; Prelle A; Salviati G; Betto R; Zeviani M; Schon E A; DiMauro S; Rowland L P
Immunocytochemical study of nebulin in Duchenne muscular dystrophy.
Neurology 1988;38(10):1600-3.
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1988: Zeviani M; Moraes C T; DiMauro S; Nakase H; Bonilla E; Schon E A; Rowland L P
Deletions of mitochondrial DNA in Kearns-Sayre syndrome.
Neurology 1988;38(9):1339-46.
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1988: Miranda A F; Bonilla E; Martucci G; Moraes C T; Hays A P; Dimauro S
Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients.
The American journal of pathology 1988;132(3):410-6.
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1988: Bonilla E; Samitt C E; Miranda A F; Hays A P; Salviati G; DiMauro S; Kunkel L M; Hoffman E P; Rowland L P
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
Cell 1988;54(4):447-52.
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1988: DiMauro S; Zeviani M; Rizzuto R; Lombes A; Nakase H; Bonilla E; Miranda A; Schon E
Molecular defects in cytochrome oxidase in mitochondrial diseases.
Journal of bioenergetics and biomembranes 1988;20(3):353-64.
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1988: Zeviani M; Darras B T; Rizzuto R; Salviati G; Betto R; Bonilla E; Miranda A F; Du J; Samitt C; Dickson G
Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32.
Genomics 1988;2(3):249-56.
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1988: Schon E A; Bonilla E; Lombes A; Moraes C T; Nakase H; Rizzuto R; Zeviani M; DiMauro S
Clinical and biochemical studies on cytochrome oxidase deficiencies.
Annals of the New York Academy of Sciences 1988;550():348-59.
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1988: DiMauro S; Zeviani M; Servidei S; Prelle A; Miranda A F; Bonilla E; Schon E A
Biochemical and molecular aspects of cytochrome C oxidase deficiency.
Advances in neurology 1988;48():93-105.
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1987: DiMauro S; Bonilla E; Zeviani M; Servidei S; DeVivo D C; Schon E A
Mitochondrial myopathies.
Journal of inherited metabolic disease 1987;10 Suppl 1():113-28.
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