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Massimo Zeviani

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

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TOP 3
Zecic Alexandra; Smet Joél E; De Praeter Claudine M; Vanhaesebrouck Piet; Viscomi Carlo; Van Den Broecke Caroline; De Paepe Boel; Lohse Peter; Martin Jean-Jacques; Jackson Joshua G; Campbell Colin R; De Meirleir Linda J; Zeviani Massimo; Seneca Sara H; Lissens Willy; Van Coster Rudy N
Lactic acidosis in a newborn with adrenal calcifications.
Cesaroni Elisabetta; Scarpelli Marina; Zamponi Nelia; Polonara Gabriele; Zeviani Massimo
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.
Valente Lucia; Shigi Narumi; Suzuki Tsutomu; Zeviani Massimo
The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.

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All Publications

2009: Zecic Alexandra; Smet Joél E; De Praeter Claudine M; Vanhaesebrouck Piet; Viscomi Carlo; Van Den Broecke Caroline; De Paepe Boel; Lohse Peter; Martin Jean-Jacques; Jackson Joshua G; Campbell Colin R; De Meirleir Linda J; Zeviani Massimo; Seneca Sara H; Lissens Willy; Van Coster Rudy N
Lactic acidosis in a newborn with adrenal calcifications.
Pediatric research 2009;66(3):317-22.
2009: Cesaroni Elisabetta; Scarpelli Marina; Zamponi Nelia; Polonara Gabriele; Zeviani Massimo
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.
Pediatric neurology 2009;41(2):131-4.
2009: Valente Lucia; Shigi Narumi; Suzuki Tsutomu; Zeviani Massimo
The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.
Biochimica et biophysica acta 2009;1792(8):791-5.
2009: Da Pozzo Paola; Cardaioli Elena; Malfatti Edoardo; Gallus Gian Nicola; Malandrini Alessandro; Gaudiano Carmen; Berti Gianna; Invernizzi Federica; Zeviani Massimo; Federico Antonio
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
European journal of human genetics : EJHG 2009;17(8):1092-6.
2009: Fernandez-Ayala Daniel J M; Sanz Alberto; Vartiainen Suvi; Kemppainen Kia K; Babusiak Marek; Mustalahti Eero; Costa Rodolfo; Tuomela Tea; Zeviani Massimo; Chung Jongkyeong; O'Dell Kevin M C; Rustin Pierre; Jacobs Howard T
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation.
Cell metabolism 2009;9(5):449-60.
2009: Valente Lucia; Piga Daniela; Lamantea Eleonora; Carrara Franco; Uziel Graziella; Cudia Paola; Zani Anna; Farina Laura; Morandi Lucia; Mora Marina; Spinazzola Antonella; Zeviani Massimo; Tiranti Valeria
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochimica et biophysica acta 2009;1787(5):491-501.
2009: Ghezzi Daniele; Viscomi Carlo; Ferlini Alessandra; Gualandi Francesca; Mereghetti Paolo; DeGrandis Domenico; Zeviani Massimo
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
Human molecular genetics 2009;18(6):1058-64.
2009: Tiranti Valeria; Viscomi Carlo; Hildebrandt Tatjana; Di Meo Ivano; Mineri Rossana; Tiveron Cecilia; Levitt Michael D; Prelle Alessandro; Fagiolari Gigliola; Rimoldi Marco; Zeviani Massimo
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
Nature medicine 2009;15(2):200-5.
2009: Orthmann-Murphy Jennifer L; Salsano Ettore; Abrams Charles K; Bizzi Alberto; Uziel Graziella; Freidin Mona M; Lamantea Eleonora; Zeviani Massimo; Scherer Steven S; Pareyson Davide
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Brain : a journal of neurology 2009;132(Pt 2):426-38.
2009: Parini Rossella; Furlan Francesca; Notarangelo Luigi; Spinazzola Antonella; Uziel Graziella; Strisciuglio Pietro; Concolino Daniela; Corbetta Carlo; Nebbia Gabriella; Menni Francesca; Rossi Giorgio; Maggioni Marco; Zeviani Massimo
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
Journal of hepatology 2009;50(1):215-21.
2009: Fernández-Vizarra Erika; Tiranti Valeria; Zeviani Massimo
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.
Biochimica et biophysica acta 2009;1793(1):200-11.
2009: Mineri Rossana; Pavelka Norman; Fernandez-Vizarra Erika; Ricciardi-Castagnoli Paola; Zeviani Massimo; Tiranti Valeria
How do human cells react to the absence of mitochondrial DNA?
PloS one 2009;4(5):e5713.
2009: Hudson Gavin; Yu-Wai-Man Patrick; Zeviani Massimo; Chinnery Patrick F
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.
Molecular vision 2009;15():870-5.
2008: Zeviani Massimo
Train, train, train! No pain, just gain.
Brain : a journal of neurology 2008;131(Pt 11):2809-11.
2008: Ghezzi Daniele; Saada Ann; D'Adamo Pio; Fernandez-Vizarra Erika; Gasparini Paolo; Tiranti Valeria; Elpeleg Orly; Zeviani Massimo
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
American journal of human genetics 2008;83(3):415-23.
2008: Bugiani Marianna; Gyftodimou Yolanda; Tsimpouka Paraskevi; Lamantea Eleonora; Katzaki Eleni; d'Adamo Pio; Nakou Sheena; Georgoudi Nelli; Grigoriadou Maria; Tsina Efthymia; Kabolis Nikolaos; Milani Donatella; Pandelia Efthimia; Kokotas Haris; Gasparini Paolo; Giannoulia-Karantana Aglaia; Renieri Alessandra; Zeviani Massimo; Petersen Michael B
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
American journal of medical genetics. Part A 2008;146A(17):2221-6.
2008: Spinazzola Antonella; Santer René; Akman Orhan H; Tsiakas Kostas; Schaefer Hansjoerg; Ding Xiaoqi; Karadimas Charalampos L; Shanske Sara; Ganesh Jaya; Di Mauro Salvatore; Zeviani Massimo
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Archives of neurology 2008;65(8):1108-13.
2008: Ashley Neil; O'Rourke Anthony; Smith Conrad; Adams Susan; Gowda Vasantha; Zeviani Massimo; Brown Garry K; Fratter Carl; Poulton Joanna
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Human molecular genetics 2008;17(16):2496-506.
2008: Mineri R; Rimoldi M; Burlina A B; Koskull S; Perletti C; Heese B; von Döbeln U; Mereghetti P; Di Meo I; Invernizzi F; Zeviani M; Uziel G; Tiranti V
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Journal of medical genetics 2008;45(7):473-8.
2008: Okuyaz Cetin; Ezgü Fatih Süheyl; Biberoglu Gürsel; Zeviani Massimo; Tiranti Valeria; Yilgör Esat
Severe infantile hypotonia with ethylmalonic aciduria: case report.
Journal of child neurology 2008;23(6):703-5.
2008: Galassi Giuliana; Lamantea Eleonora; Invernizzi Federica; Tavani Federica; Pisano Isabella; Ferrero Ileana; Palmieri Luigi; Zeviani Massimo
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
Neuromuscular disorders : NMD 2008;18(6):465-70.
2008: Invernizzi Federica; Varanese Sara; Thomas Astrid; Carrara Franco; Onofrj Marco; Zeviani Massimo
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.
Neuromuscular disorders : NMD 2008;18(6):460-4.
2008: Massa Valeria; Fernandez-Vizarra Erika; Alshahwan Saad; Bakhsh Eman; Goffrini Paola; Ferrero Ileana; Mereghetti Paolo; D'Adamo Pio; Gasparini Paolo; Zeviani Massimo
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
American journal of human genetics 2008;82(6):1281-9.
2008: Wiedmer Andreas; Wang Pu; Zhou Jing; Rennekamp Andrew J; Tiranti Valeria; Zeviani Massimo; Lieberman Paul M
Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication.
Journal of virology 2008;82(9):4647-55.
2008: Marongiu Roberta; Ferraris Alessandro; Ialongo Tàmara; Michiorri Silvia; Soleti Francesco; Ferrari Francesca; Elia Antonio E; Ghezzi Daniele; Albanese Alberto; Altavista Maria Concetta; Antonini Angelo; Barone Paolo; Brusa Livia; Cortelli Pietro; Martinelli Paolo; Pellecchia Maria Teresa; Pezzoli Gianni; Scaglione Cesa; Stanzione Paolo; Tinazzi Michele; Zecchinelli Anna; Zeviani Massimo; Cassetta Emanuele; Garavaglia Barbara; Dallapiccola Bruno; Bentivoglio Anna Rita; Valente Enza Maria;
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Human mutation 2008;29(4):565.
2008: Spinazzola Antonella; Massa Valeria; Hirano Michio; Zeviani Massimo
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.
Neuromuscular disorders : NMD 2008;18(4):315-8.
2008: Engelsen Bernt A; Tzoulis Charalampos; Karlsen Bjørn; Lillebø Atle; Laegreid Liv M; Aasly Jan; Zeviani Massimo; Bindoff Laurence A
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Brain : a journal of neurology 2008;131(Pt 3):818-28.
2008: Chinnery Patrick F; Zeviani Massimo
155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2008;18(3):259-67.
2008: Zeviani Massimo
OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape.
Brain : a journal of neurology 2008;131(Pt 2):314-7.
2008: Tuppen H A L; Fattori F; Carrozzo R; Zeviani M; DiMauro S; Seneca S; Martindale J E; Olpin S E; Treacy E P; McFarland R; Santorelli F M; Taylor R W
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Journal of medical genetics 2008;45(1):55-61.
2007: Morten Karl J; Ashley Neil; Wijburg Frits; Hadzic Nedim; Parr Jeremy; Jayawant Sandeep; Adams Susan; Bindoff Laurence; Bakker Henk D; Mieli-Vergani Giorgina; Zeviani Massimo; Poulton Joanna
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion.
Mitochondrion 2007;7(6):386-95.
2007: Zeviani Massimo; Carelli Valerio
Mitochondrial disorders.
Current opinion in neurology 2007;20(5):564-71.
2007: Hudson Gavin; Carelli Valerio; Spruijt Liesbeth; Gerards Mike; Mowbray Catherine; Achilli Alessandro; Pyle Angela; Elson Joanna; Howell Neil; La Morgia Chiara; Valentino Maria Lucia; Huoponen Kirsi; Savontaus Marja-Liisa; Nikoskelainen Eeva; Sadun Alfredo A; Salomao Solange R; Belfort Rubens; Griffiths Philip; Man Patrick Yu Wai; de Coo Rene F M; Horvath Rita; Zeviani Massimo; Smeets Hubert J T; Torroni Antonio; Chinnery Patrick F
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
American journal of human genetics 2007;81(2):228-33.
2007: Malfatti Edoardo; Bugiani Marianna; Invernizzi Federica; de Souza Carolina Fischinger-Moura; Farina Laura; Carrara Franco; Lamantea Eleonora; Antozzi Carlo; Confalonieri Paolo; Sanseverino Maria Teresa; Giugliani Roberto; Uziel Graziella; Zeviani Massimo
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
Brain : a journal of neurology 2007;130(Pt 7):1894-904.
2007: Spinazzola Antonella; Zeviani Massimo
Disorders of nuclear-mitochondrial intergenomic communication.
Bioscience reports 2007;27(1-3):39-51.
2007: Ashley Neil; Adams Susan; Slama Abdelhamid; Zeviani Massimo; Suomalainen Anu; Andreu Antonio L; Naviaux Robert K; Poulton Joanna
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
Human molecular genetics 2007;16(12):1400-11.
2007: Fernandez-Vizarra Erika; Bugiani Marianna; Goffrini Paola; Carrara Franco; Farina Laura; Procopio Elena; Donati Alice; Uziel Graziella; Ferrero Iliana; Zeviani Massimo
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Human molecular genetics 2007;16(10):1241-52.
2007: Craig Kate; Ferrari Gianfrancesco; Tiangyou Watcharee; Hudson Gavin; Gellera Cinzia; Zeviani Massimo; Chinnery Patrick F
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.
Brain : a journal of neurology 2007;130(Pt 4):E69; author reply E70.
2007: Fernandez-Vizarra Erika; Berardinelli Angela; Valente Lucia; Tiranti Valeria; Zeviani Massimo
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Journal of medical genetics 2007;44(3):173-80.
2007: Alberio Simona; Mineri Rossana; Tiranti Valeria; Zeviani Massimo
Depletion of mtDNA: syndromes and genes.
Mitochondrion 2007;7(1-2):6-12.
2007: Dell'agnello Carlotta; Leo Sara; Agostino Alessandro; Szabadkai György; Tiveron Cecilia; Zulian Alessandra; Prelle Alessandro; Roubertoux Pierre; Rizzuto Rosario; Zeviani Massimo
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.
Human molecular genetics 2007;16(4):431-44.
2007: Valente Lucia; Tiranti Valeria; Marsano Rene Massimiliano; Malfatti Edoardo; Fernandez-Vizarra Erika; Donnini Claudia; Mereghetti Paolo; De Gioia Luca; Burlina Alberto; Castellan Claudio; Comi Giacomo P; Savasta Salvatore; Ferrero Iliana; Zeviani Massimo
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
American journal of human genetics 2007;80(1):44-58.
2007: Hudson Gavin; Carelli Valerio; Horvath Rita; Zeviani Massimo; Smeets Hubert J; Chinnery Patrick F
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
Molecular vision 2007;13():2339-43.
2006: Tiangyou W; Hudson G; Ghezzi D; Ferrari G; Zeviani M; Burn D J; Chinnery P F
POLG1 in idiopathic Parkinson disease.
Neurology 2006;67(9):1698-700.
2006: Baruffini Enrico; Lodi Tiziana; Dallabona Cristina; Puglisi Andrea; Zeviani Massimo; Ferrero Iliana
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
Human molecular genetics 2006;15(19):2846-55.
2006: Bugiani Marianna; Lamantea Eleonora; Invernizzi Federica; Moroni Isabella; Bizzi Alberto; Zeviani Massimo; Uziel Graziella
Effects of riboflavin in children with complex II deficiency.
Brain & development 2006;28(9):576-81.
2006: Marongiu Roberta; Ghezzi Daniele; Ialongo Tamara; Soleti Francesco; Elia Antonio; Cavone Stefania; Albanese Alberto; Altavista Maria Concetta; Barone Paolo; Brusa Livia; Cortelli Pietro; Petrozzi Lucia; Scaglione Cesa; Stanzione Paolo; Tinazzi Michele; Zeviani Massimo; Dallapiccola Bruno; Bentivoglio Anna Rita; Valente Enza Maria; Garavaglia Barbara;
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2006;21(8):1232-5.
2006: Bugiani M; Al Shahwan S; Lamantea E; Bizzi A; Bakhsh E; Moroni I; Balestrini M R; Uziel G; Zeviani M
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
Neurology 2006;67(2):273-9.
2006: Tzoulis Charalampos; Engelsen Bernt A; Telstad Wenche; Aasly Jan; Zeviani Massimo; Winterthun Synnøve; Ferrari Gianfrancesco; Aarseth Jan H; Bindoff Laurence A
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
Brain : a journal of neurology 2006;129(Pt 7):1685-92.
2006: Horvath Rita; Hudson Gavin; Ferrari Gianfrancesco; Fütterer Nancy; Ahola Sofia; Lamantea Eleonora; Prokisch Holger; Lochmüller Hanns; McFarland Robert; Ramesh V; Klopstock Thomas; Freisinger Peter; Salvi Fabrizio; Mayr Johannes A; Santer Rene; Tesarova Marketa; Zeman Jiri; Udd Bjarne; Taylor Robert W; Turnbull Douglass; Hanna Michael; Fialho Doreen; Suomalainen Anu; Zeviani Massimo; Chinnery Patrick F
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
2006: Spinazzola Antonella; Viscomi Carlo; Fernandez-Vizarra Erika; Carrara Franco; D'Adamo Pio; Calvo Sarah; Marsano René Massimiliano; Donnini Claudia; Weiher Hans; Strisciuglio Pietro; Parini Rossella; Sarzi Emmanuelle; Chan Alicia; DiMauro Salvatore; Rötig Agnes; Gasparini Paolo; Ferrero Iliana; Mootha Vamsi K; Tiranti Valeria; Zeviani Massimo
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nature genetics 2006;38(5):570-5.
2006: Calvo Sarah; Jain Mohit; Xie Xiaohui; Sheth Sunil A; Chang Betty; Goldberger Olga A; Spinazzola Antonella; Zeviani Massimo; Carr Steven A; Mootha Vamsi K
Systematic identification of human mitochondrial disease genes through integrative genomics.
Nature genetics 2006;38(5):576-82.
2006: Carelli Valerio; Achilli Alessandro; Valentino Maria Lucia; Rengo Chiara; Semino Ornella; Pala Maria; Olivieri Anna; Mattiazzi Marina; Pallotti Francesco; Carrara Franco; Zeviani Massimo; Leuzzi Vincenzo; Carducci Carla; Valle Giorgio; Simionati Barbara; Mendieta Luana; Salomao Solange; Belfort Rubens; Sadun Alfredo A; Torroni Antonio
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
American journal of human genetics 2006;78(4):564-74.
2006: Iuso Arcangela; Scacco Salvatore; Piccoli Claudia; Bellomo Francesco; Petruzzella Vittoria; Trentadue Raffaella; Minuto Michele; Ripoli Maria; Capitanio Nazzareno; Zeviani Massimo; Papa Sergio
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
The Journal of biological chemistry 2006;281(15):10374-80.
2006: Tiranti V; Briem E; Lamantea E; Mineri R; Papaleo E; De Gioia L; Forlani F; Rinaldo P; Dickson P; Abu-Libdeh B; Cindro-Heberle L; Owaidha M; Jack R M; Christensen E; Burlina A; Zeviani M
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Journal of medical genetics 2006;43(4):340-6.
2006: Salih Mustafa A; Abdel-Gader Abdel-Galil M; Zahraa Jihad N; Al-Rayess Molham M; Alorainy Ibrahim A; Hassan Hamdy H; Ruitenbeek Wim; Zeviani Massimo
Stroke due to mitochondrial disorders in Saudi children.
Saudi medical journal 2006;27 Suppl 1():S81-90.
2006: Brusco A; Michielotto C; Gatta V; Foresta C; Matullo G; Zeviani M; Ferrari G; Dragone E; Calabrese G; Rossato M; Stuppia L; Migone N
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.
Journal of endocrinological investigation 2006;29(1):1-4.
2006: Orcesi Simona; Gorni Ksenija; Termine Cristiano; Uggetti Carla; Veggiotti Pierangelo; Carrara Franco; Zeviani Massimo; Berardinelli Angela; Lanzi Giovanni
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
Journal of child neurology 2006;21(1):79-82.
2006: Smeitink Jan A; Zeviani Massimo; Turnbull Douglass M; Jacobs Howard T
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.
Cell metabolism 2006;3(1):9-13.
2006: Zordan Mauro A; Cisotto Paola; Benna Clara; Agostino Alessandro; Rizzo Giorgia; Piccin Alberto; Pegoraro Mirko; Sandrelli Federica; Perini Giuliana; Tognon Giuseppe; De Caro Raffaele; Peron Samantha; Kronniè Truus Te; Megighian Aram; Reggiani Carlo; Zeviani Massimo; Costa Rodolfo
Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.
Genetics 2006;172(1):229-41.
2005: Hudson Gavin; Keers Sharon; Yu Wai Man Patrick; Griffiths Philip; Huoponen Kirsi; Savontaus Marja-Liisa; Nikoskelainen Eeva; Zeviani Massimo; Carrara Franco; Horvath Rita; Karcagi Veronika; Spruijt Liesbeth; de Coo I F M; Smeets Hubert J M; Chinnery Patrick F
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
American journal of human genetics 2005;77(6):1086-91.
2005: Vogel Rutger O; Janssen Rolf J R J; Ugalde Cristina; Grovenstein Melissa; Huijbens Richard J; Visch Henk-Jan; van den Heuvel Lambert P; Willems Peter H; Zeviani Massimo; Smeitink Jan A M; Nijtmans Leo G J
Human mitochondrial complex I assembly is mediated by NDUFAF1.
The FEBS journal 2005;272(20):5317-26.
2005: Palmieri Luigi; Alberio Simona; Pisano Isabella; Lodi Tiziana; Meznaric-Petrusa Mija; Zidar Janez; Santoro Antonella; Scarcia Pasquale; Fontanesi Flavia; Lamantea Eleonora; Ferrero Iliana; Zeviani Massimo
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
Human molecular genetics 2005;14(20):3079-88.
2005: Montanini Luisa; Regna-Gladin Caroline; Eoli Marica; Albarosa Ruth; Carrara Franco; Zeviani Massimo; Bruzzone Maria Grazia; Broggi Giovanni; Boiardi Amerigo; Finocchiaro Gaetano
Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas.
Journal of neuro-oncology 2005;74(1):87-9.
2005: Spinazzola Antonella; Zeviani Massimo
Disorders of nuclear-mitochondrial intergenomic signaling.
Gene 2005;354():162-8.
2005: Brunelle Joslyn K; Bell Eric L; Quesada Nancy M; Vercauteren Kristel; Tiranti Valeria; Zeviani Massimo; Scarpulla Richard C; Chandel Navdeep S
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation.
Cell metabolism 2005;1(6):409-14.
2005: Ghezzi Daniele; Marelli Cecilia; Achilli Alessandro; Goldwurm Stefano; Pezzoli Gianni; Barone Paolo; Pellecchia Maria Teresa; Stanzione Paolo; Brusa Livia; Bentivoglio Anna Rita; Bonuccelli Ubaldo; Petrozzi Lucia; Abbruzzese Giovanni; Marchese Roberta; Cortelli Pietro; Grimaldi Daniela; Martinelli Paolo; Ferrarese Carlo; Garavaglia Barbara; Sangiorgi Simonetta; Carelli Valerio; Torroni Antonio; Albanese Alberto; Zeviani Massimo
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
European journal of human genetics : EJHG 2005;13(6):748-52.
2005: Bugiani M; Tiranti V; Farina L; Uziel G; Zeviani M
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Journal of medical genetics 2005;42(5):e28.
2005: Winterthun S; Ferrari G; He L; Taylor R W; Zeviani M; Turnbull D M; Engelsen B A; Moen G; Bindoff L A
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Neurology 2005;64(7):1204-8.
2005: Ferrari Gianfrancesco; Lamantea Eleonora; Donati Alice; Filosto Massimiliano; Briem Egill; Carrara Franco; Parini Rossella; Simonati Alessandro; Santer René; Zeviani Massimo
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Brain : a journal of neurology 2005;128(Pt 4):723-31.
2005: Wang Liya; Limongelli Anna; Vila Maya R; Carrara Franco; Zeviani Massimo; Eriksson Staffan
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Molecular genetics and metabolism 2005;84(1):75-82.
2005: Jacobs Howard T; Hutchin Timothy P; Käppi Timo; Gillies Greta; Minkkinen Kia; Walker John; Thompson Karen; Rovio Anja T; Carella Massimo; Melchionda Salvatore; Zelante Leopoldo; Gasparini Paolo; Pyykkö Ilmari; Shah Zahid H; Zeviani Massimo; Mueller Robert F
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
European journal of human genetics : EJHG 2005;13(1):26-33.
2005: Tovo Pier-Angelo; Chiapello Nadia; Gabiano Clara; Zeviani Massimo; Spada Marco
Zidovudine administration during pregnancy and mitochondrial disease in the offspring.
Antiviral therapy 2005;10(6):697-9.
2005: Zeviani M; Carelli V
Dominance in mitochondrial disorders.
Journal of inherited metabolic disease 2005;28(3):287-99.
2004: Bugiani M; Invernizzi F; Alberio S; Briem E; Lamantea E; Carrara F; Moroni I; Farina L; Spada M; Donati M A; Uziel G; Zeviani M
Clinical and molecular findings in children with complex I deficiency.
Biochimica et biophysica acta 2004;1659(2-3):136-47.
2004: Spinazzola Antonella; Carrara Franco; Mora Marina; Zeviani Massimo
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.
Neuromuscular disorders : NMD 2004;14(12):815-7.
2004: Fetoni Vincenza; Briem Egill; Carrara Franco; Mora Marina; Zeviani Massimo
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.
Neuromuscular disorders : NMD 2004;14(11):723-6.
2004: Achilli Alessandro; Rengo Chiara; Magri Chiara; Battaglia Vincenza; Olivieri Anna; Scozzari Rosaria; Cruciani Fulvio; Zeviani Massimo; Briem Egill; Carelli Valerio; Moral Pedro; Dugoujon Jean-Michel; Roostalu Urmas; Loogväli Eva-Liis; Kivisild Toomas; Bandelt Hans-Jürgen; Richards Martin; Villems Richard; Santachiara-Benerecetti A Silvana; Semino Ornella; Torroni Antonio
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
American journal of human genetics 2004;75(5):910-8.
2004: Zeviani Massimo; Di Donato Stefano
Mitochondrial disorders.
Brain : a journal of neurology 2004;127(Pt 10):2153-72.
2004: Lamantea Eleonora; Zeviani Massimo
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
Annals of neurology 2004;56(3):454-5.
2004: Chinnery Patrick F; DiMauro Salvatore; Shanske Sara; Schon Eric A; Zeviani Massimo; Mariotti Caterina; Carrara Fanco; Lombes Anne; Laforet Pascal; Ogier Helène; Jaksch Michaela; Lochmüller Hanns; Horvath Rita; Deschauer Marcus; Thorburn David R; Bindoff Laurence A; Poulton Joanna; Taylor Robert W; Matthews John N S; Turnbull Douglass M
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Graziewicz Maria A; Longley Matthew J; Bienstock Rachelle J; Zeviani Massimo; Copeland William C
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
Nature structural & molecular biology 2004;11(8):770-6.
2004: Limongelli A; Schaefer J; Jackson S; Invernizzi F; Kirino Y; Suzuki T; Reichmann H; Zeviani M
Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.
Journal of medical genetics 2004;41(5):342-9.
2004: Fontanesi Flavia; Palmieri Luigi; Scarcia Pasquale; Lodi Tiziana; Donnini Claudia; Limongelli Anna; Tiranti Valeria; Zeviani Massimo; Ferrero Iliana; Viola Anna Maria
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
Human molecular genetics 2004;13(9):923-34.
2004: Tiranti Valeria; D'Adamo Pio; Briem Egill; Ferrari Gianfrancesco; Mineri Rossana; Lamantea Eleonora; Mandel Hanna; Balestri Paolo; Garcia-Silva Maria-Teresa; Vollmer Brigitte; Rinaldo Piero; Hahn Si Houn; Leonard James; Rahman Shamima; Dionisi-Vici Carlo; Garavaglia Barbara; Gasparini Paolo; Zeviani Massimo
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
American journal of human genetics 2004;74(2):239-52.
2004: Zeviani Massimo
Mitochondrial disorders.
Supplements to Clinical neurophysiology 2004;57():304-12.
2004: Garavaglia B; Invernizzi F; Carbone M L Agostoni; Viscardi V; Saracino F; Ghezzi D; Zeviani M; Zorzi G; Nardocci N
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
Journal of inherited metabolic disease 2004;27(4):455-63.
2003: Puoti G; Carrara F; Sampaolo S; De Caro M; Vincitorio C M; Invernizzi F; Zeviani M
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son.
Journal of medical genetics 2003;40(11):858-63.
2003: Taylor Robert W; McDonnell Martina T; Blakely Emma L; Chinnery Patrick F; Taylor Geoffrey A; Howell Neil; Zeviani Massimo; Briem Egill; Carrara Franco; Turnbull Douglass M
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Annals of neurology 2003;54(4):521-4.
2003: Zeviani Massimo; Carelli Valerio
Mitochondrial disorders.
Current opinion in neurology 2003;16(5):585-94.
2003: Zeviani Massimo; Spinazzola Antonella
Mitochondrial disorders.
Current neurology and neuroscience reports 2003;3(5):423-32.
2003: Crimi Marco; Galbiati Sara; Moroni Isabella; Bordoni Andreina; Perini Maria Paola; Lamantea Eleonora; Sciacco Monica; Zeviani Massimo; Biunno Ida; Moggio Maurizio; Scarlato Guglielmo; Comi Giacomo Pietro
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Neurology 2003;60(11):1857-61.
2003: Zeviani Massimo; Spinazzola Antonella; Carelli Valerio
Nuclear genes in mitochondrial disorders.
Current opinion in genetics & development 2003;13(3):262-70.
2003: Agostino A; Valletta L; Chinnery P F; Ferrari G; Carrara F; Taylor R W; Schaefer A M; Turnbull D M; Tiranti V; Zeviani M
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Neurology 2003;60(8):1354-6.
2003: Man P Y W; Morris C M; Zeviani M; Carrara F; Turnbull D M; Chinnery P F
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy.
Journal of medical genetics 2003;40(4):e41.
2003: Agostino Alessandro; Invernizzi Federica; Tiveron Cecilia; Fagiolari Gigliola; Prelle Alessandro; Lamantea Eleonora; Giavazzi Alessio; Battaglia Giorgio; Tatangelo Laura; Tiranti Valeria; Zeviani Massimo
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
Human molecular genetics 2003;12(4):399-413.
2003: Arenas Joaquín; Briem Egill; Dahl Henrik; Hutchison Wendy; Lewis Sharon; Martin Miguel A; Spelbrink Hans; Tiranti Valeria; Jacobs Howy; Zeviani Massimo
The V368i mutation in Twinkle does not segregate with AdPEO.
Annals of neurology 2003;53(2):278.
2002: Lamantea Eleonora; Tiranti Valeria; Bordoni Andreina; Toscano Antonio; Bono Francesco; Servidei Serena; Papadimitriou Alex; Spelbrink Hans; Silvestri Laura; Casari Giorgio; Comi Giacomo P; Zeviani Massimo
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Annals of neurology 2002;52(2):211-9.
2002: Farina Laura; Chiapparini Luisa; Uziel Graziella; Bugiani Marianna; Zeviani Massimo; Savoiardo Mario
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
AJNR. American journal of neuroradiology 2002;23(7):1095-100.
2002: Man P Y W; Brown D T; Wehnert M S; Zeviani M; Carrara F; Turnbull D M; Chinnery P F
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
Neurology 2002;58(12):1861-2.
2002: Bruno Claudio; Biancheri Roberta; Garavaglia Barbara; Biedi Claudia; Rossi Andrea; Lamba Laura Doria; Bado Massimo; Greco Marilena; Zeviani Massimo; Minetti Carlo
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Journal of child neurology 2002;17(3):233-6.
2002: Zorzi Giovanna; Garavaglia Barbara; Invernizzi Federica; Girotti Floriano; Soliveri Paola; Zeviani Massimo; Angelini Lucia; Nardocci Nardo
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):407-8.
2002: Carelli Valerio; Baracca Alessandra; Barogi Silvia; Pallotti Francesco; Valentino Maria Lucia; Montagna Pasquale; Zeviani Massimo; Pini Antonella; Lenaz Giorgio; Baruzzi Agostino; Solaini Giancarlo
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
Archives of neurology 2002;59(2):264-70.
2002: Savoiardo Mario; Zeviani Massimo; Uziel Graziella; Farina Laura
MRI in Leigh syndrome with SURF1 gene mutation.
Annals of neurology 2002;51(1):138-9.
2002: Corona P; Lamantea E; Greco M; Carrara F; Agostino A; Guidetti D; Dotti M T; Mariotti C; Zeviani M
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
Annals of neurology 2002;51(1):118-22.
2002: Lamantea Eleonora; Carrara Franco; Mariotti Caterina; Morandi Lucia; Tiranti Valeria; Zeviani Massimo
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.
Neuromuscular disorders : NMD 2002;12(1):49-52.
2001: Spelbrink J N; Li F Y; Tiranti V; Nikali K; Yuan Q P; Tariq M; Wanrooij S; Garrido N; Comi G; Morandi L; Santoro L; Toscano A; Fabrizi G M; Somer H; Croxen R; Beeson D; Poulton J; Suomalainen A; Jacobs H T; Zeviani M; Larsson C
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Nature genetics 2001;28(3):223-31.
2001: Hutchin T P; Navarro-Coy N C; Van Camp G; Tiranti V; Zeviani M; Schuelke M; Jaksch M; Newton V; Mueller R F
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
European journal of human genetics : EJHG 2001;9(5):385-7.
2001: Gellera C; Castellotti B; Riggio M C; Silani V; Morandi L; Testa D; Casali C; Taroni F; Di Donato S; Zeviani M; Mariotti C
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
Neuromuscular disorders : NMD 2001;11(4):404-10.
2001: Petruzzella V; Vergari R; Puzziferri I; Boffoli D; Lamantea E; Zeviani M; Papa S
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
Human molecular genetics 2001;10(5):529-35.
2001: Corona P; Antozzi C; Carrara F; D'Incerti L; Lamantea E; Tiranti V; Zeviani M
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
Annals of neurology 2001;49(1):106-10.
2000: Tiranti V; Corona P; Greco M; Taanman J W; Carrara F; Lamantea E; Nijtmans L; Uziel G; Zeviani M
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
Human molecular genetics 2000;9(18):2733-42.
2000: Börner G V; Zeviani M; Tiranti V; Carrara F; Hoffmann S; Gerbitz K D; Lochmüller H; Pongratz D; Klopstock T; Melberg A; Holme E; Pääbo S
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
Human molecular genetics 2000;9(4):467-75.
1999: Zeviani M; Corona P; Nijtmans L; Tiranti V
Nuclear gene defects in mitochondrial disorders.
Italian journal of neurological sciences 1999;20(6):401-8.
1999: Tiranti V; Galimberti C; Nijtmans L; Bovolenta S; Perini M P; Zeviani M
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
Human molecular genetics 1999;8(13):2533-40.
1999: Tiranti V; Jaksch M; Hofmann S; Galimberti C; Hoertnagel K; Lulli L; Freisinger P; Bindoff L; Gerbitz K D; Comi G P; Uziel G; Zeviani M; Meitinger T
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Annals of neurology 1999;46(2):161-6.
1999: Tiranti V; Carrara F; Confalonieri P; Mora M; Maffei R M; Lamantea E; Zeviani M
A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.
Neuromuscular disorders : NMD 1999;9(2):66-71.
1999: Rovio A; Tiranti V; Bednarz A L; Suomalainen A; Spelbrink J N; Lecrenier N; Melberg A; Zeviani M; Poulton J; Foury F; Jacobs H T
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
European journal of human genetics : EJHG 1999;7(2):140-6.
1998: Petruzzella V; Tiranti V; Fernandez P; Ianna P; Carrozzo R; Zeviani M
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
Genomics 1998;54(3):494-504.
1998: Tiranti V; Hoertnagel K; Carrozzo R; Galimberti C; Munaro M; Granatiero M; Zelante L; Gasparini P; Marzella R; Rocchi M; Bayona-Bafaluy M P; Enriquez J A; Uziel G; Bertini E; Dionisi-Vici C; Franco B; Meitinger T; Zeviani M
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
American journal of human genetics 1998;63(6):1609-21.
1998: Zeviani M; Tiranti V; Piantadosi C
Mitochondrial disorders.
Medicine 1998;77(1):59-72.
1998: Tiranti V; D'Agruma L; Pareyson D; Mora M; Carrara F; Zelante L; Gasparini P; Zeviani M
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Annals of neurology 1998;43(1):98-101.
1997: Uziel G; Moroni I; Lamantea E; Fratta G M; Ciceri E; Carrara F; Zeviani M
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
Journal of neurology, neurosurgery, and psychiatry 1997;63(1):16-22.
1997: Zeviani M; Petruzzella V; Carrozzo R
Disorders of nuclear-mitochondrial intergenomic signalling.
Journal of bioenergetics and biomembranes 1997;29(2):121-30.
1997: Zeviani M; Fernandez-Silva P; Tiranti V
Disorders of mitochondria and related metabolism.
Current opinion in neurology 1997;10(2):160-7.
1997: Tiranti V; Savoia A; Forti F; D'Apolito M F; Centra M; Rocchi M; Zeviani M
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.
Human molecular genetics 1997;6(4):615-25.
1997: Zeviani M; Antozzi C
Mitochondrial disorders.
Molecular human reproduction 1997;3(2):133-48.
1997: Munaro M; Tiranti V; Sandonà D; Lamantea E; Uziel G; Bisson R; Zeviani M
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.
Human molecular genetics 1997;6(2):221-8.
1996: Malandrini A; Carrera P; Palmeri S; Cavallaro T; Fabrizi G M; Villanova M; Fattapposta M; Vismara L; Brancolini V; Tanganelli P; Calì A; Morocutti C; Zeviani M; Ferrari M; Guazzi G C
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy.
Acta neuropathologica 1996;92(2):115-22.
1996: Kaukonen J A; Amati P; Suomalainen A; Rötig A; Piscaglia M G; Salvi F; Weissenbach J; Fratta G; Comi G; Peltonen L; Zeviani M
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
American journal of human genetics 1996;58(4):763-9.
1996: Zeviani M; Bertagnolio B; Uziel G
Neurological presentations of mitochondrial diseases.
Journal of inherited metabolic disease 1996;19(4):504-20.
1995: Tiranti V; Munaro M; Sandonà D; Lamantea E; Rimoldi M; DiDonato S; Bisson R; Zeviani M
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.
Human molecular genetics 1995;4(11):2017-23.
1995: Mariotti C; Uziel G; Carrara F; Mora M; Prelle A; Tiranti V; DiDonato S; Zeviani M
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.
Journal of neurology 1995;242(9):547-56.
1995: Fabrizi G M; Tiranti V; Mariotti C; Guazzi G C; Malandrini A; DiDonato S; Zeviani M
Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.
Journal of neurology 1995;242(8):490-6.
1995: Tiranti V; Rossi E; Rocchi M; DiDonato S; Zuffardi O; Zeviani M
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32.
Genomics 1995;27(3):555-7.
1995: Zeviani M; Amati P; Comi G; Fratta G; Mariotti C; Tiranti V
Searching for genes affecting the structural integrity of the mitochondrial genome.
Biochimica et biophysica acta 1995;1271(1):153-8.
1995: Suomalainen A; Kaukonen J; Amati P; Timonen R; Haltia M; Weissenbach J; Zeviani M; Somer H; Peltonen L
An autosomal locus predisposing to deletions of mitochondrial DNA.
Nature genetics 1995;9(2):146-51.
1995: Tiranti V; Rossi E; Ruiz-Carrillo A; Rossi G; Rocchi M; DiDonato S; Zuffardi O; Zeviani M
Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.
Genomics 1995;25(2):559-64.
1995: Zeviani M; Mariotti C; Antozzi C; Fratta G M; Rustin P; Prelle A
OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.
Muscle & nerve 1995;3():S170-4.
1994: Zeviani M; Amati P; Savoia A
Mitochondrial myopathies.
Current opinion in rheumatology 1994;6(6):559-67.
1994: Mariotti C; Tiranti V; Carrara F; Dallapiccola B; DiDonato S; Zeviani M
Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
The Journal of clinical investigation 1994;93(3):1102-7.
1994: Prelle A; Fagiolari G; Checcarelli N; Moggio M; Battistel A; Comi G P; Bazzi P; Bordoni A; Zeviani M; Scarlato G
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.
Acta neuropathologica 1994;87(4):371-6.
1993: DiDonato S; Zeviani M; Giovannini P; Savarese N; Rimoldi M; Mariotti C; Girotti F; Caraceni T
Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients.
Neurology 1993;43(11):2262-8.
1993: Tiranti V; Rocchi M; DiDonato S; Zeviani M
Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB).
Gene 1993;126(2):219-25.
1993: Franceschetti S; Antozzi C; Binelli S; Carrara F; Nardocci N; Zeviani M; Avanzini G
Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.
Acta neurologica Scandinavica 1993;87(3):219-23.
1993: Zeviani M; Muntoni F; Savarese N; Serra G; Tiranti V; Carrara F; Mariotti C; DiDonato S
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
European journal of human genetics : EJHG 1993;1(1):80-7.
1991: Tiranti V; Barat-Gueride B; Bijl J; DiDonato S; Zeviani M
A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis.
Nucleic acids research 1991;19(15):4291.
1991: Servidei S; Zeviani M; Manfredi G; Ricci E; Silvestri G; Bertini E; Gellera C; Di Mauro S; Di Donato S; Tonali P
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.
Neurology 1991;41(7):1053-9.
1991: Zeviani M; Gellera C; Antozzi C; Rimoldi M; Morandi L; Villani F; Tiranti V; DiDonato S
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).
Lancet 1991;338(8760):143-7.
1991: Finocchiaro G; Zeviani M; Garavaglia B; Gellera C; Bertagnolio B; Rimoldi M; Di Donato S
[Metabolic myopathies]
Minerva pediatrica 1991;43(3):81-9.
1991: Zeviani M; Amati P; Bresolin N; Antozzi C; Piccolo G; Toscano A; DiDonato S
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
American journal of human genetics 1991;48(2):203-11.
1991: Zeviani M; DiDonato S
Neurological disorders due to mutations of the mitochondrial genome.
Neuromuscular disorders : NMD 1991;1(3):165-72.
1990: Zeviani M; Bresolin N; Gellera C; Bordoni A; Pannacci M; Amati P; Moggio M; Servidei S; Scarlato G; DiDonato S
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
American journal of human genetics 1990;47(6):904-14.
1990: Zeviani M; Gellera C; Pannacci M; Uziel G; Prelle A; Servidei S; DiDonato S
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
Annals of neurology 1990;28(1):94-7.
1990: Gellera C; Uziel G; Rimoldi M; Zeviani M; Laverda A; Carrara F; DiDonato S
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Neurology 1990;40(3 Pt 1):495-9.
1989: Zeviani M; Servidei S; Gellera C; Bertini E; DiMauro S; DiDonato S
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
Nature 1989;339(6222):309-11.

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