FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Massimo Zeviani

Research Profile

Chemicals & Drugs

Physiology

Disorders

Concepts & Ideas

Co-author Network

Publications

TOP 3
Sathyaseelan S Deepa; Shauna Hill; Nicolas Musi; Daniel Pulliam; Adam Salmon; Yun Shi; Lauren Sloane; Carlo Viscomi; Michael E Walsh; Massimo Zeviani; Ning Zhang; Holly Van Remmen
Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity.
Rosa Ferriero; Eleonora Lamantea; Brendan Lee; Giuseppe Manco; Edoardo Nusco; Paolo Sordino; Peter W Stacpoole; Massimo Zeviani; Maria I Ferrante; Nicola Brunetti-Pierri
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.
Ester Sánchez; Dennis R Winge; Massimo Zeviani; Jennifer L Fox; Teresa Lobo; Erika Fernández-Vizarra
LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Massimo Zeviani (preview)

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

Flash Player Required

All Publications

2013: Sathyaseelan S Deepa; Shauna Hill; Nicolas Musi; Daniel Pulliam; Adam Salmon; Yun Shi; Lauren Sloane; Carlo Viscomi; Michael E Walsh; Massimo Zeviani; Ning Zhang; Holly Van Remmen
Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013;27(4):1371-80.
2013: Rosa Ferriero; Eleonora Lamantea; Brendan Lee; Giuseppe Manco; Edoardo Nusco; Paolo Sordino; Peter W Stacpoole; Massimo Zeviani; Maria I Ferrante; Nicola Brunetti-Pierri
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.
Science translational medicine 2013;5(175):175ra31.
2013: Ester Sánchez; Dennis R Winge; Massimo Zeviani; Jennifer L Fox; Teresa Lobo; Erika Fernández-Vizarra
LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.
Biochimica et biophysica acta 2013;1827(3):285-93.
2013: Piero Barboni; Agostino Baruzzi; Leonardo Caporali; Michele Carbonelli; Anna Maria De Negri; Chiara La Morgia; Rocco Liguori; Alessandra Maresca; Federico Sadun; Giacomo Savini; Francesca Simonelli; Maria Lucia Valentino; Massimo Zeviani; Valerio Carelli
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
Brain : a journal of neurology 2013;136(Pt 2):e231.
2013: Alessia Indrieri; Jade Quartararo; Alessia Romano; Rosarita Tatè; Massimo Zeviani; Paola Bovolenta; Giancarlo Chesi; Ivan Conte; Ileana Ferrero; Daniele Ghezzi; Paola Goffrini; Brunella Franco
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
EMBO molecular medicine 2013;5(2):280-93.
2013: Laura Melchionda; Michela Morbin; Sabrina Ravaglia; Mario Savoiardo; Hairong Wang; Jianguo Zhang; Isabella Ceccherini; Alfredo Costa; Pio D'Adamo; Mingyan Fang; Laura Farina; Valeria Fugnanesi; Daniele Ghezzi; Wenyan Li; Xuanzhu Liu; Massimo Zeviani
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Orphanet journal of rare diseases 2013;8():66.
2013: Valeria Tiranti; Massimo Zeviani
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Cold Spring Harbor perspectives in biology 2013;5(1):a011437.
2012: Carlo Rinaldi; Alice Schindler; Irina F Sevrioukova; Massimo Zeviani; Leslie G Biesecker; Carsten Bönnemann; Barrington G Burnett; Daniele Ghezzi; Christopher Grunseich; Iren Horkayne-Szakaly; Marina L Kennerson; Costanza Lamperti; Guida Landouré; Kenneth H Fischbeck
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
American journal of human genetics 2012;91(6):1095-102.
2012: Alessia Indrieri; Kerstin Kutsche; Isabelle Maystadt; Manuela Morleo; Roberta Tammaro; Valeria Tiranti; Vanessa Alexandra van Rahden; Massimo Zeviani; Alex Zvulunov; Ivan Conte; Ilaria D'Amato; Stephanie Demuth; Daniela Iaconis; Brunella Franco
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
American journal of human genetics 2012;91(5):942-9.
2012: Costanza Lamperti; Xuanzhu Liu; Isabella Moroni; Hairong Wang; Massimo Zeviani; Jianguo Zhang; Qing Zhang; Franco Carrara; Mingyan Fang; Federica Invernizzi; Daniele Ghezzi
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Molecular genetics and metabolism 2012;107(3):403-8.
2012: Costanza Lamperti; Paolo Mereghetti; Romana Rizzi; Franco Carrara; Daria Diodato; Daniele Ghezzi; Eleonora Lamantea; Massimo Zeviani
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
Neuromuscular disorders : NMD 2012;22(11):990-4.
2012: Ivano Di Meo; Costanza Lamperti; Carlo Viscomi; Alberto Auricchio; Alberto Burlina; Massimo Zeviani
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.
EMBO molecular medicine 2012;4(9):1008-14.
2012: Ana L Pelayo-Negro; Maria C Rodríguez-Oroz; Coro Sánchez-Quintana; Miguel A Tola-Arribas; Victor Volpini; Massimo Zeviani; José Berciano; Jon Infante
Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
Movement disorders : official journal of the Movement Disorder Society 2012;27(10):1326.
2012: Abdulaziz AlSaman; Federica Invernizzi; Hoda Tomoum; Massimo Zeviani
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association 2012;18(4):285-9.
2012: Daniele Ghezzi; Tobias B Haack; Federica Invernizzi; Thomas Meitinger; Laura Melchionda; Rossella Parini; Holger Prokisch; Tim M Strom; Enrico Baruffini; Alberto B Burlina; Cristina Dallabona; Ileana Ferrero; Massimo Zeviani
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
American journal of human genetics 2012;90(6):1079-87.
2012: Marjan E Steenweg; Tim M Strom; Johann Te Water Naudé; Carola G M van Berkel; Marjo S van der Knaap; Truus E M Abbink; Enrico Bertini; Annette Bley; Luisa Diogo; Daniele Ghezzi; Eugenio Grillo; Tobias Haack; Diego Martinelli; Holger Prokisch; Massimo Zeviani
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Brain : a journal of neurology 2012;135(Pt 5):1387-94.
2012: Carla Giordano; Vincenzo Leuzzi; Maurizia Orlandi; Paola Papoff; Alberto Spalice; Valeria Tiranti; Carlo Viscomi; Alberto Burlina; Giulia d'Amati; Ivano Di Meo; Massimo Zeviani
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
Journal of inherited metabolic disease 2012;35(3):451-8.
2012: Tobias B Haack; Birgit Haberberger; Hana Hansikova; Julia B Hennermann; Ulrike Herberg; Georg F Hoffmann; Arcangela Iuso; Thomas Klopstock; Klaus A Kuhn; Johannes A Mayr; Thomas Meitinger; Barbara Plecko; Markus Schuelke; Wolfgang Sperl; Valentina Strecker; Tim M Strom; Marketa Tesarova; Thomas Wieland; Ekkehard Wilichowski; Ilka Wittig; Jiri Zeman; Massimo Zeviani; Uwe Ahting; Peter Freisinger; Eva-Maria Frisch; Matteo Gorza; Elisabeth Graf; Holger Prokisch
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Journal of medical genetics 2012;49(4):277-83.
2012: F Invernizzi; P B Jensen; S Ravaglia; I D'Amato; Massimo Zeviani; V Tiranti
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Mitochondrion 2012;12(2):328-35.
2012: Johannes A Mayr; Thomas Meitinger; Isabella Moroni; Matthias R Baumgartner; Elisabeth Graf; Tobias B Haack; Birgit Haberberger; Janbernd Kirschner; Eleonora Lamantea; Richard J Rodenburg; Jan Smeitink; Wolfgang Sperl; Beat Steinmann; Tim M Strom; Andrea Superti-Furga; Thomas Wieland; Massimo Zeviani; Franz A Zimmermann; Holger Prokisch
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
American journal of human genetics 2012;90(2):314-20.
2012: Alessandro Achilli; Patrizia Amati-Bonneau; Piero Barboni; Dominique Bonneau; Anna Maria De Negri; Helene Dollfus; Ghislaine Ducos; Sascha Fauser; Baharak Hooshiar Kashani; Luisa Iommarini; Chiara La Morgia; Beate Leo-Kottler; Rocco Liguori; Antoine Moulignier; Anna Olivieri; Christophe Orssaud; Maria Pala; Fabio Pizza; Vincent Procaccio; Pascal Reynier; Federico Sadun; Antonio Torroni; Maria Lucia Valentino; Bernd Wissinger; Massimo Zeviani; Valerio Carelli
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
PloS one 2012;7(8):e42242.
2012: Daniele Ghezzi; Massimo Zeviani
Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.
Advances in experimental medicine and biology 2012;748():65-106.
2012: Paola Arzuffi; Erika Fernandez-Vizarra; Costanza Lamperti; Lucia Morandi; Paola Tonin; Massimo Zeviani
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.
Neuromuscular disorders : NMD 2012;22(1):50-5.
2012: Massimo Zeviani; Alessandro Simonati; Laurence A Bindoff
Ataxia in mitochondrial disorders.
Handbook of clinical neurology 2012;103():359-72.
2011: J Uusimaa; Massimo Zeviani; C A Sewry; E P Treacy; J Birks; Garry K Brown; G Crisponi; L Feng; Carl Fratter; I Hughes; Heinz Jungbluth; M McDermott; Francesco Muntoni; Joanna Poulton
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Journal of medical genetics 2011;48(10):660-8.
2011: Valerio Carelli; Arturo Carta; Anna Maria De Negri; Silvana Guerriero; Chiara La Morgia; Rocco Liguori; Pasquale Montagna; Giovanni Rizzo; Alfredo Sadun; Federico Sadun; Francesca Simonelli; Maria Lucia Valentino; Massimo Zeviani; Divya Aggarwal; Patrizia Avoni; Agostino Baruzzi; Michele Carbonelli; Piero Barboni
Idebenone treatment in Leber's hereditary optic neuropathy.
Brain : a journal of neurology 2011;134(Pt 9):e188.
2011: Graziella Uziel; Daniele Ghezzi; Massimo Zeviani
Infantile mitochondrial encephalopathy.
Seminars in fetal & neonatal medicine 2011;16(4):205-15.
2011: Ivano Di Meo; Gigliola Fagiolari; Alessandro Prelle; Carlo Viscomi; Massimo Zeviani; Valeria Tiranti
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.
Antioxidants & redox signaling 2011;15(2):353-62.
2011: Carlo Viscomi; Emanuela Bottani; Raffaele Cerutti; Gabriele Civiletto; Gigliola Fagiolari; Costanza Lamperti; Maurizio Moggio; Eric A Schon; Massimo Zeviani
In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.
Cell metabolism 2011;14(1):80-90.
2011: Gavin Hudson; Patrick Yu-Wai-Man; Philip G Griffiths; Rita Horvath; Valerio Carelli; Massimo Zeviani; Patrick F Chinnery
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.
Mitochondrion 2011;11(4):620-2.
2011: Mihael Rogac; Marija Meznaric; Massimo Zeviani; Wolfgang Sperl; David Neubauer
Functional outcome of children with mitochondrial diseases.
Pediatric neurology 2011;44(5):340-6.
2011: Georg M. Stettner; Carlo Viscomi; Massimo Zeviani; Ekkehard Wilichowski; Mathias Dutschmann
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.
Mitochondrion 2011;11(3):413-20.
2011: Raquel Moreno-Loshuertos; Gustavo Ferrín; Rebeca Acín-Pérez; M Esther Gallardo; Carlo Viscomi; Acisclo Pérez-Martos; Massimo Zeviani; Patricio Fernández-Silva; José Antonio Enríquez
Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations.
PLoS genetics 2011;7(4):e1001379.
2011: Daniele Ghezzi; Paola Arzuffi; Mauro Zordan; Caterina Da Re; Costanza Lamperti; Clara Benna; Pio D'Adamo; Daria Diodato; Rodolfo Costa; Caterina Mariotti; Graziella Uziel; Cristina Smiderle; Massimo Zeviani
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
Nature genetics 2011;43(3):259-63.
2011: Ettore Salsano; Anna Rita Giovagnoli; Lucia Morandi; Carmelo Maccagnano; Eleonora Lamantea; Chiara Marchesi; Massimo Zeviani; Davide Pareyson
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.
Journal of the neurological sciences 2011;300(1-2):165-8.
2011: Enrico Baruffini; Rita Horvath; Cristina Dallabona; Birgit Czermin; Eleonora Lamantea; Laurence Bindoff; Federica Invernizzi; Iliana Ferrero; Massimo Zeviani; Tiziana Lodi
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Mitochondrion 2011;11(1):182-90.
2011: Raffaele Lodi; Caterina Tonon; Maria Lucia Valentino; David Manners; Claudia Testa; Emil Malucelli; Chiara La Morgia; Piero Barboni; Michele Carbonelli; Simone Schimpf; Bernd Wissinger; Massimo Zeviani; Agostino Baruzzi; Rocco Liguori; Bruno Barbiroli; Valerio Carelli
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Archives of neurology 2011;68(1):67-73.
2010: Tobias B Haack; Katharina Danhauser; Birgit Haberberger; Jonathan Hoser; Valentina Strecker; Detlef Boehm; Graziella Uziel; Eleonora Lamantea; Federica Invernizzi; Joanna Poulton; Boris Rolinski; Arcangela Iuso; Saskia Biskup; Thorsten Schmidt; Hans-Werner Mewes; Ilka Wittig; Thomas Meitinger; Massimo Zeviani; Holger Prokisch
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Nature genetics 2010;42(12):1131-4.
2010: Carlo Viscomi; Alberto B Burlina; Imad Dweikat; Mario Savoiardo; Costanza Lamperti; Tatjana Hildebrandt; Valeria Tiranti; Massimo Zeviani
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
Nature medicine 2010;16(8):869-71.
2010: Piero Barboni; Michele Carbonelli; Giacomo Savini; Beatrice Foscarini; Vincenzo Parisi; Maria L Valentino; Arturo Carta; Annamaria De Negri; Federico Sadun; Massimo Zeviani; Alfredo Sadun; Simone Schimpf; Bernd Wissinger; Valerio Carelli
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
Ophthalmology 2010;117(8):1547-53.
2010: Charalampos Tzoulis; Gesche Neckelmann; Sverre Mork; Bernt E Engelsen; Carlo Viscomi; Gunnar Moen; Lars Ersland; Massimo Zeviani; Laurence A Bindoff
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Brain : a journal of neurology 2010;133(Pt 5):1428-37.
2010: Daniele Ghezzi; Irina Sevrioukova; Federica Invernizzi; Costanza Lamperti; Marina Mora; Pio D'Adamo; Francesca Novara; Orsetta Zuffardi; Graziella Uziel; Massimo Zeviani
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
American journal of human genetics 2010;86(4):639-49.
2010: Erika Fernández-Vizarra; Gustavo Ferrín; Acisclo Pérez-Martos; Patricio Fernández-Silva; Massimo Zeviani; José Antonio Enríquez
Isolation of mitochondria for biogenetical studies: An update.
Mitochondrion 2010;10(3):253-62.
2010: Cristina Dallabona; René Massimiliano Marsano; Paola Arzuffi; Daniele Ghezzi; Patrizia Mancini; Massimo Zeviani; Iliana Ferrero; Claudia Donnini
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.
Human molecular genetics 2010;19(6):1098-107.
2010: Gavin Hudson; Patrick Yu-Wai-Man; Phillip G Griffiths; Leonardo Caporali; Solange S Salomao; Adriana Berezovsky; Valerio Carelli; Massimo Zeviani; Patrick F Chinnery
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.
Molecular vision 2010;16():2760-4.
2009: Alexandra Zecic; Joél E Smet; Claudine M De Praeter; Piet Vanhaesebrouck; Carlo Viscomi; Caroline Van den Broecke; Boel De Paepe; Peter Lohse; Jean-Jacques Martin; Joshua G Jackson; Colin R Campbell; Linda De Meirleir; Massimo Zeviani; Sara Seneca; Willy Lissens; Rudy Van Coster
Lactic acidosis in a newborn with adrenal calcifications.
Pediatric research 2009;66(3):317-22.
2009: Elisabetta Cesaroni; Marina Scarpelli; Nelia Zamponi; Gabriele Polonara; Massimo Zeviani
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.
Pediatric neurology 2009;41(2):131-4.
2009: Lucia Valente; Narumi Shigi; Tsutomu Suzuki; Massimo Zeviani
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: Paola Da Pozzo; Elena Cardaioli; Edoardo Malfatti; Gian Nicola Gallus; Alessandro Malandrini; Carmen Gaudiano; Gianna Berti; Federica Invernizzi; Massimo Zeviani; Antonio Federico
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: Daniele Ghezzi; Paola Goffrini; Graziella Uziel; Rita Horvath; Thomas Klopstock; Hanns Lochmüller; Pio D'Adamo; Paolo Gasparini; Tim M Strom; Holger Prokisch; Federica Invernizzi; Ileana Ferrero; Massimo Zeviani
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Nature genetics 2009;41(6):654-6.
2009: Daniel J M Fernandez-Ayala; Alberto Sanz; Suvi Vartiainen; Kia K Kemppainen; Marek Babusiak; Eero Mustalahti; Rodolfo Costa; Tea Tuomela; Massimo Zeviani; Jongkyeong Chung; Kevin M C O'Dell; Pierre Rustin; Howard T Jacobs
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation.
Cell metabolism 2009;9(5):449-60.
2009: Lucia Valente; Daniela Piga; Eleonora Lamantea; Franco Carrara; Graziella Uziel; Paola Cudia; Anna Zani; Laura Farina; Lucia Morandi; Marina Mora; Antonella Spinazzola; Massimo Zeviani; Valeria Tiranti
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochimica et biophysica acta 2009;1787(5):491-501.
2009: Daniele Ghezzi; Carlo Viscomi; Alessandra Ferlini; Francesca Gualandi; Paolo Mereghetti; Domenico DeGrandis; Massimo Zeviani
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
Human molecular genetics 2009;18(6):1058-64.
2009: Valeria Tiranti; Carlo Viscomi; Tatjana Hildebrandt; Ivano Di Meo; Rossana Mineri; Cecilia Tiveron; Michael D Levitt; Alessandro Prelle; Gigliola Fagiolari; Marco Rimoldi; Massimo Zeviani
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
Nature medicine 2009;15(2):200-5.
2009: Jennifer L Orthmann-Murphy; Ettore Salsano; Charles K Abrams; Alberto Bizzi; Graziella Uziel; Mona Freidin; Eleonora Lamantea; Massimo Zeviani; Steven S Scherer; Davide Pareyson
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Brain : a journal of neurology 2009;132(Pt 2):426-38.
2009: Erika Fernandez-Vizarra; Valeria Tiranti; Lucia Valente; Angela Berardinelli; Massimo Zeviani
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
BMJ case reports 2009;2009():.
2009: Antonella Spinazzola; Massimo Zeviani
Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes.
Advances in experimental medicine and biology 2009;652():69-84.
2009: Rossana Mineri; Norman Pavelka; Erika Fernandez-Vizarra; Paola Ricciardi-Castagnoli; Massimo Zeviani; Valeria Tiranti
How do human cells react to the absence of mitochondrial DNA?
PloS one 2009;4(5):e5713.
2009: Gavin Hudson; Patrick Yu-Wai-Man; Massimo Zeviani; Patrick F Chinnery
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.
2009: Rossella Parini; Francesca Furlan; Luigi Notarangelo; antonella spinazzola; Graziella Uziel; Pietro Strisciuglio; Daniela Concolino; Carlo Corbetta; Gabriella Nebbia; Francesca Menni; Giorgio Rossi; Marco Maggioni; Massimo Zeviani
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
Journal of hepatology 2009;50(1):215-21.
2009: Erika Fernández-Vizarra; Valeria Tiranti; Massimo Zeviani
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.
2008: Massimo Zeviani
Train, train, train! No pain, just gain.
Brain : a journal of neurology 2008;131(Pt 11):2809-11.
2008: Daniele Ghezzi; Ann Saada (Reisch); Pio D'Adamo; Erika Fernandez-Vizarra; Paolo Gasparini; Valeria Tiranti; Orly Elpeleg; Massimo Zeviani
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: Marianna Bugiani; Yolanda Gyftodimou; Paraskevi Tsimpouka; Eleonora Lamantea; Eleni Katzaki; Pio d'Adamo; Sheena Nakou; Nelli Georgoudi; Maria Grigoriadou; Efthymia Tsina; Nikolaos Kabolis; Donatella Milani; Efthimia Pandelia; Haris Kokotas; Paolo Gasparini; Aglaia Giannoulia-Karantana; Alessandra Renieri; Massimo Zeviani; Michael B Petersen
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: Neil Ashley; Anthony O'Rourke; Conrad Smith; Susan Adams; Vasantha Gowda; Massimo Zeviani; Garry K Brown; Carl Fratter; Joanna Poulton
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: antonella spinazzola; René Santer; Orhan H Akman; Kostas Tsiakas; Hansjoerg Schaefer; Xiaoqi Ding; Charalampos L Karadimas; Sara Shanske; Jai Ganesh; Salvatore Di Mauro; Massimo Zeviani
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Archives of neurology 2008;65(8):1108-13.
2008: Rossana Mineri; M Rimoldi; A B Burlina; S Koskull; C Perletti; B Heese; U von Döbeln; Paolo Mereghetti; Ivano Di Meo; Federica Invernizzi; Massimo Zeviani; Graziella Uziel; Valeria Tiranti
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: Cetin Okuyaz; Fatih Süheyl Ezgü; Gürsel Biberoglu; Massimo Zeviani; Valeria Tiranti; Esat Yilgör
Severe infantile hypotonia with ethylmalonic aciduria: case report.
Journal of child neurology 2008;23(6):703-5.
2008: Giuliana Galassi; Eleonora Lamantea; Federica Invernizzi; Federica Tavani; Isabella Pisano; Iliana Ferrero; Luigi Palmieri; Massimo Zeviani
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
Neuromuscular disorders : NMD 2008;18(6):465-70.
2008: Federica Invernizzi; Sara Varanese; Astrid Thomas; Franco Carrara; Marco Onofrj; Massimo Zeviani
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: Valeria Massa; Erika Fernandez-Vizarra; Saad Alshahwan; Eman Bakhsh; Paola Goffrini; Iliana Ferrero; Paolo Mereghetti; Pio D'Adamo; Paolo Gasparini; Massimo Zeviani
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: Andreas Wiedmer; Pu Wang; Jing Zhou; Andrew J Rennekamp; Valeria Tiranti; Massimo Zeviani; Paul M Lieberman
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: Roberta Marongiu; Alessandro Ferraris; Tamara Ialongo; Silvia Michiorri; Francesco Soleti; Francesca Ferrari; Antonio E Elia; Daniele Ghezzi; Alberto Albanese; Maria Concetta Altavista; Angelo Antonini; Paolo Barone; Livia Brusa; Pietro Cortelli; Paolo Martinelli; Maria Teresa Pellecchia; Gianni Pezzoli; Cesa Scaglione; Paolo Stanzione; Michele Tinazzi; Anna Zecchinelli; Massimo Zeviani; Emanuele Cassetta; Barbara Garavaglia; Bruno Dallapiccola; Anna Rita Bentivoglio; Enza Maria Valente
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Human mutation 2008;29(4):565.
2008: antonella spinazzola; Valeria Massa; Michio Hirano; Massimo Zeviani
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: Bernt A Engelsen; Charalampos Tzoulis; Bjørn Karlsen; Atle Lillebø; liv marie laegreid; Jan Aasly; Massimo Zeviani; Laurence A Bindoff
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Brain : a journal of neurology 2008;131(Pt 3):818-28.
2008: Patrick F Chinnery; Massimo Zeviani
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: Massimo Zeviani
OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape.
Brain : a journal of neurology 2008;131(Pt 2):314-7.
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: Karl J Morten; Neil Ashley; Frits A Wijburg; Nedim Hadzic; Jeremy Parr; Sandeep Jayawant; Susan Adams; Laurence A Bindoff; Henk D Bakker; Giorgina Mieli-Vergani; Massimo Zeviani; Joanna Poulton
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: Massimo Zeviani; Valerio Carelli
Mitochondrial disorders.
Current opinion in neurology 2007;20(5):564-71.
2007: Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; P Y W Man; René F M de Coo; Rita Horvath; Massimo Zeviani; H J M Smeets; Antonio Torroni; Patrick F Chinnery
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: Edoardo Malfatti; Massimiliano Bugiani; Federica Invernizzi; Carolina Fischinger-Moura de Souza; Laura Farina; Franco Carrara; Eleonora Lamantea; Carlo Antozzi; Paolo Confalonieri; Maria Teresa Vieira Sanseverino; Roberto Giugliani; Graziella Uziel; Massimo Zeviani
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: Neil Ashley; Susan Adams; Abdelhamid Slama; Massimo Zeviani; Anu Suomalainen; Antonio L Andreu; Robert K Naviaux; Joanna Poulton
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
Human molecular genetics 2007;16(12):1400-11.
2007: antonella spinazzola; Massimo Zeviani
Disorders of nuclear-mitochondrial intergenomic communication.
Bioscience reports 2007;27(1-3):39-51.
2007: Erika Fernandez-Vizarra; Massimiliano Bugiani; Paola Goffrini; Franco Carrara; Laura Farina; Elena Procopio; Alice Donati; Graziella Uziel; Iliana Ferrero; Massimo Zeviani
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Human molecular genetics 2007;16(10):1241-52.
2007: Kate Craig; Gianfrancesco Ferrari; Watcharee Tiangyou; Gavin Hudson; Cinzia Gellera; Massimo Zeviani; Patrick F Chinnery
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: Erika Fernandez-Vizarra; Angela Berardinelli; Lucia Valente; Valeria Tiranti; Massimo Zeviani
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: Carlotta Dell'agnello; Sara Leo; Alessandro Agostino; Gyorgy Szabadkai; Cecilia Tiveron; Alessandra Zulian; Alessandro Prelle; Pierre L Roubertoux; Rosario Rizzuto; Massimo Zeviani
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.
Human molecular genetics 2007;16(4):431-44.
2007: Simona Alberio; Rossana Mineri; Valeria Tiranti; Massimo Zeviani
Depletion of mtDNA: syndromes and genes.
Mitochondrion 2007;7(1-2):6-12.
2007: Gavin Hudson; Valerio Carelli; Rita Horvath; Massimo Zeviani; Hubert J Smeets; Patrick F Chinnery
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
Molecular vision 2007;13():2339-43.
2007: Lucia Valente; Valeria Tiranti; René Massimiliano Marsano; Edoardo Malfatti; Erika Fernandez-Vizarra; Claudia Donnini; Paolo Mereghetti; Luca De Gioia; Alberto Burlina; Claudio Castellan; Giacomo P Comi; Salvatore Savasta; Iliana Ferrero; Massimo Zeviani
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.
2006: Watcharee Tiangyou; Gavin Hudson; D Ghezzi; G Ferrari; Massimo Zeviani; David J Burn; Patrick F Chinnery
POLG1 in idiopathic Parkinson disease.
Neurology 2006;67(9):1698-700.
2006: Enrico Baruffini; Tiziana Lodi; Cristina Dallabona; andrea puglisi; Massimo Zeviani; Iliana Ferrero
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: Massimiliano Bugiani; Eleonora Lamantea; Federica Invernizzi; Isabella Moroni; Alberto Bizzi; Massimo Zeviani; Graziella Uziel
Effects of riboflavin in children with complex II deficiency.
Brain & development 2006;28(9):576-81.
2006: Roberta Marongiu; Daniele Ghezzi; Tamara Ialongo; Francesco Soleti; Antonio E Elia; Stefania Cavone; Alberto Albanese; Maria Concetta Altavista; Paolo Barone; Livia Brusa; Pietro Cortelli; Lucia Petrozzi; Cesa Scaglione; Paolo Stanzione; Michele Tinazzi; Massimo Zeviani; Bruno Dallapiccola; Anna Rita Bentivoglio; Enza Maria Valente; Barbara Garavaglia
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: Massimiliano Bugiani; S Al Shahwan; Eleonora Lamantea; Alberto Bizzi; E Bakhsh; Isabella Moroni; M R Balestrini; Graziella Uziel; Massimo Zeviani
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
Neurology 2006;67(2):273-9.
2006: Charalampos Tzoulis; Bernt A Engelsen; Wenche Telstad; Jan Aasly; Massimo Zeviani; Synnøve Winterthun; Gianfrancesco Ferrari; Jan H Aarseth; Laurence A Bindoff
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: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; René Santer; Marketa Tesarova; Jirí Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
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: Sarah Calvo; Mohit Jain; Xiaohui Xie; Sunil A Sheth; Betty Chang; Olga A Goldberger; antonella spinazzola; Massimo Zeviani; Steven A Carr; Vamsi K Mootha
Systematic identification of human mitochondrial disease genes through integrative genomics.
Nature genetics 2006;38(5):576-82.
2006: Arcangela Iuso; Salvatore Scacco; Claudia Piccoli; Francesco Bellomo; Vittoria Petruzzella; Raffaella Trentadue; Michele Minuto; Maria Ripoli; Nazzareno Capitanio; Massimo Zeviani; Sergio Papa
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: Valerio Carelli; Alessandro Achilli; Maria Lucia Valentino; Chiara Rengo; Ornella Semino; Maria Pala; Anna Olivieri; Marina Mattiazzi; Francesco Pallotti; Franco Carrara; Massimo Zeviani; Vincenzo Leuzzi; Carla Carducci; Giorgio Valle; Barbara Simionati; Luana Mendieta; Solange R Salomao; Rubens Belfort; Alfredo Sadun; Antonio Torroni
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: Valeria Tiranti; Egill Briem; Eleonora Lamantea; Rossana Mineri; Elena Papaleo; Luca De Gioia; Fabio Forlani; P Rinaldo; P Dickson; B Abu-Libdeh; L Cindro-Heberle; M Owaidha; R M Jack; E Christensen; A Burlina; Massimo Zeviani
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Journal of medical genetics 2006;43(4):340-6.
2006: Mustafa A Salih; Abdel-Galil M Abdel Gader; Jihad N Zahraa; Molham M Al-Rayess; Ibrahim Alorainy; Hamdy H Hassan; Wim Ruitenbeek; Massimo Zeviani
Stroke due to mitochondrial disorders in Saudi children.
Saudi medical journal 2006;27 Suppl 1():S81-90.
2006: Alfredo Brusco; Chiara Michielotto; Valentina Gatta; C Foresta; Giuseppe Matullo; Massimo Zeviani; G Ferrari; Elisa Dragone; Giuseppe Calabrese; M Rossato; Liborio Stuppia; Nicola Migone
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: Simona Orcesi; Ksenija Olga Tatiana Gorni; Cristiano Termine; Carla Uggetti; Pierangelo Veggiotti; Franco Carrara; Massimo Zeviani; Angela Berardinelli; Giovanni Lanzi
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: Jan A M Smeitink; Massimo Zeviani; Douglass M Turnbull; Howard T Jacobs
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.
Cell metabolism 2006;3(1):9-13.
2006: Mauro A Zordan; Paola Cisotto; Clara Benna; Alessandro Agostino; Giorgia Rizzo; Alberto Piccin; Mirko Pegoraro; Federica Sandrelli; Giuliana Perini; Giuseppe Tognon; Raffaele De Caro; Samantha Peron; Truus Te Kronniè; Aram Megighian; Carlo Reggiani; Massimo Zeviani; Rodolfo Costa
Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.
Genetics 2006;172(1):229-41.
2005: Gavin Hudson; Sharon M Keers; Patrick Yu Wai Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; H J M Smeets; Patrick F Chinnery
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: Luigi Palmieri; Simona Alberio; Isabella Pisano; Tiziana Lodi; Mija Meznaric-Petrusa; Janez Zidar; Antonella Santoro; Pasquale Scarcia; Flavia Fontanesi; Eleonora Lamantea; Iliana Ferrero; Massimo Zeviani
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: Rutger O Vogel; Rolf J R J Janssen; Cristina Ugalde; Melissa Grovenstein; Richard Huijbens; Henk-Jan Visch; Lambert P van den Heuvel; Peter H G M Willems; Massimo Zeviani; Jan A M Smeitink; Leo G J Nijtmans
Human mitochondrial complex I assembly is mediated by NDUFAF1.
The FEBS journal 2005;272(20):5317-26.
2005: Luisa Montanini; Caroline Regna-Gladin; Marica Eoli; Ruth Albarosa; Franco Carrara; Massimo Zeviani; Maria Grazia Bruzzone; Giovanni Broggi; Amerigo Boiardi; Gaetano Finocchiaro
Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas.
Journal of neuro-oncology 2005;74(1):87-9.
2005: antonella spinazzola; Massimo Zeviani
Disorders of nuclear-mitochondrial intergenomic signaling.
Gene 2005;354():162-8.
2005: Joslyn K Brunelle; Eric L Bell; Nancy M Quesada; Kristel Vercauteren; Valeria Tiranti; Massimo Zeviani; Richard C Scarpulla; Navdeep S Chandel
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation.
Cell metabolism 2005;1(6):409-14.
2005: Daniele Ghezzi; Cecilia Marelli; Alessandro Achilli; Stefano Goldwurm; Gianni Pezzoli; Paolo Barone; Maria Teresa Pellecchia; Paolo Stanzione; Livia Brusa; Anna Rita Bentivoglio; Ubaldo Bonuccelli; Lucia Petrozzi; Giovanni Abbruzzese; Roberta Marchese; Pietro Cortelli; Daniela Grimaldi; Paolo Martinelli; Carlo Ferrarese; Barbara Garavaglia; Simonetta Sangiorgi; Valerio Carelli; Antonio Torroni; Alberto Albanese; Massimo Zeviani
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: Massimiliano Bugiani; Valeria Tiranti; Laura Farina; Graziella Uziel; Massimo Zeviani
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: S Winterthun; G Ferrari; L He; R W Taylor; Massimo Zeviani; D M Turnbull; Bernt A Engelsen; G Moen; Laurence A Bindoff
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Neurology 2005;64(7):1204-8.
2005: Gianfrancesco Ferrari; Eleonora Lamantea; Alice Donati; Massimiliano Filosto; Egill Briem; Franco Carrara; Rossella Parini; Alessandro Simonati; René Santer; Massimo Zeviani
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Brain : a journal of neurology 2005;128(Pt 4):723-31.
2005: Pier-Angelo Tovo; Nadia Chiapello; Clara Gabiano; Massimo Zeviani; Marco Spada
Zidovudine administration during pregnancy and mitochondrial disease in the offspring.
Antiviral therapy 2005;10(6):697-9.
2005: Massimo Zeviani; V Carelli
Dominance in mitochondrial disorders.
Journal of inherited metabolic disease 2005;28(3):287-99.
2005: Liya Wang; Anna Limongelli; Maya R Vila; Franco Carrara; Massimo Zeviani; Staffan Eriksson
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: Howard T Jacobs; Tim Hutchin; Timo Käppi; Greta Gillies; Kia Minkkinen; John Walker; Karen Thompson; Anja T Rovio; Massimo Carella; Salvatore Melchionda; Leopoldo Zelante; Paolo Gasparini; Ilmari Pyykkö; Zahid Hussain Shah; Massimo Zeviani; Robert F Mueller
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
European journal of human genetics : EJHG 2005;13(1):26-33.
2004: Massimiliano Bugiani; Federica Invernizzi; S Alberio; Egill Briem; Eleonora Lamantea; Franco Carrara; Isabella Moroni; Laura Farina; M Spada; Maria Alice Donati; Graziella Uziel; Massimo Zeviani
Clinical and molecular findings in children with complex I deficiency.
Biochimica et biophysica acta 2004;1659(2-3):136-47.
2004: antonella spinazzola; Franco Carrara; Marina Mora; Massimo Zeviani
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.
Neuromuscular disorders : NMD 2004;14(12):815-7.
2004: Vincenza Fetoni; Egill Briem; Franco Carrara; Marina Mora; Massimo Zeviani
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.
Neuromuscular disorders : NMD 2004;14(11):723-6.
2004: Alessandro Achilli; Chiara Rengo; Chiara Magri; Vincenza Battaglia; Anna Olivieri; Rosaria Scozzari; Fulvio Cruciani; Massimo Zeviani; Egill Briem; Valerio Carelli; Pedro Moral; Jean-Michel Dugoujon; Urmas Roostalu; Eva-Liis Loogväli; Toomas Kivisild; Hans-Jürgen Bandelt; Martin Richards; Richard Villems; A Silvana Santachiara-Benerecetti; Ornella Semino; Antonio Torroni
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: Massimo Zeviani; Stefano Di Donato
Mitochondrial disorders.
Brain : a journal of neurology 2004;127(Pt 10):2153-72.
2004: Eleonora Lamantea; Massimo Zeviani
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: 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: Maria A Graziewicz; Matthew J Longley; Rachelle J Bienstock; Massimo Zeviani; William C Copeland
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
Nature structural & molecular biology 2004;11(8):770-6.
2004: Anna Limongelli; J Schaefer; S Jackson; F Invernizzi; Y Kirino; T Suzuki; Heinz Reichmann; Massimo Zeviani
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: Flavia Fontanesi; Luigi Palmieri; Pasquale Scarcia; Tiziana Lodi; Claudia Donnini; Anna Limongelli; Valeria Tiranti; Massimo Zeviani; Iliana Ferrero; Anna Maria Viola
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: Valeria Tiranti; Pio D'Adamo; Egill Briem; Gianfrancesco Ferrari; Rossana Mineri; Eleonora Lamantea; Hanna Mandel; Paolo Balestri; Maria-Teresa Garcia-Silva; Brigitte Vollmer; Piero Rinaldo; Si Houn Hahn; James Leonard; Shamima Rahman; Carlo Dionisi Vici; Barbara Garavaglia; Paolo Gasparini; Massimo Zeviani
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: Massimo Zeviani
Mitochondrial disorders.
Supplements to Clinical neurophysiology 2004;57():304-12.
2004: Barbara Garavaglia; Federica Invernizzi; M L Agostoni Carbone; V Viscardi; Francesca Saracino; Daniele Ghezzi; Massimo Zeviani; Giovanna Zorzi; Nardo Nardocci
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: gianfranco puoti; Franco Carrara; S Sampaolo; M De Caro; C M Vincitorio; Federica Invernizzi; Massimo Zeviani
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: Robert W Taylor; Martina T McDonnell; Emma L Blakely; Patrick F Chinnery; Geoffrey A Taylor; Neil Howell; Massimo Zeviani; Egill Briem; Franco Carrara; Douglass M Turnbull
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Annals of neurology 2003;54(4):521-4.
2003: Massimo Zeviani; Valerio Carelli
Mitochondrial disorders.
Current opinion in neurology 2003;16(5):585-94.
2003: Massimo Zeviani; antonella spinazzola
Mitochondrial disorders.
Current neurology and neuroscience reports 2003;3(5):423-32.
2003: Crimi Marco; Sara Galbiati; Isabella Moroni; Andreina Bordoni; Maria Paola Perini; Eleonora Lamantea; Monica Sciacco; Massimo Zeviani; Ida Biunno; Maurizio Moggio; Guglielmo Scarlato; Giacomo P Comi
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Neurology 2003;60(11):1857-61.
2003: Massimo Zeviani; antonella spinazzola; Valerio Carelli
Nuclear genes in mitochondrial disorders.
Current opinion in genetics & development 2003;13(3):262-70.
2003: Alessandro Agostino; L Valletta; P F Chinnery; G Ferrari; Franco Carrara; R W Taylor; A M Schaefer; D M Turnbull; Valeria Tiranti; Massimo Zeviani
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Neurology 2003;60(8):1354-6.
2003: P Y W Man; C M Morris; Massimo Zeviani; Franco Carrara; Douglass M Turnbull; Patrick F Chinnery
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy.
Journal of medical genetics 2003;40(4):e41.
2003: Alessandro Agostino; Federica Invernizzi; Cecilia Tiveron; Gigliola Fagiolari; Alessandro Prelle; Eleonora Lamantea; Alessio Giavazzi; Giorgio Battaglia; Laura Tatangelo; Valeria Tiranti; Massimo Zeviani
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: Joaquín Arenas; Egill Briem; Henrik Dahl; Wendy Hutchison; Sharon Lewis; Miguel A Martin; Hans Spelbrink; Valeria Tiranti; Howy Jacobs; Massimo Zeviani
The V368i mutation in Twinkle does not segregate with AdPEO.
Annals of neurology 2003;53(2):278.
2002: Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serenella Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
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: Laura Farina; Luisa Chiapparini; Graziella Uziel; Massimiliano Bugiani; Massimo Zeviani; Mario Savoiardo
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
AJNR. American journal of neuroradiology 2002;23(7):1095-100.
2002: P Y W Man; Denise T Brown; M S Wehnert; Massimo Zeviani; Franco Carrara; Douglass M Turnbull; Patrick F Chinnery
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
Neurology 2002;58(12):1861-2.
2002: Claudio Bruno; Roberta Biancheri; Barbara Garavaglia; Claudia Biedi; Andrea Rossi; Laura Doria Lamba; Massimo Bado; Marilena Greco; Massimo Zeviani; Carlo Minetti
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: Giovanna Zorzi; Barbara Garavaglia; Federica Invernizzi; Floriano Girotti; Paola Soliveri; Massimo Zeviani; Lucia Angelini; Nardo Nardocci
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: Valerio Carelli; Alessandra Baracca; Silvia Barogi; Francesco Pallotti; Maria Lucia Valentino; Pasquale Montagna; Massimo Zeviani; Antonella Pini; Giorgio Lenaz; Agostino Baruzzi; Giancarlo Solaini
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
Archives of neurology 2002;59(2):264-70.
2002: Mario Savoiardo; Massimo Zeviani; Graziella Uziel; Laura Farina
MRI in Leigh syndrome with SURF1 gene mutation.
Annals of neurology 2002;51(1):138-9.
2002: P Corona; Eleonora Lamantea; M Greco; Franco Carrara; Alessandro Agostino; Donata Guidetti; Maria Teresa Dotti; Caterina Mariotti; Massimo Zeviani
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
Annals of neurology 2002;51(1):118-22.
2002: Eleonora Lamantea; Franco Carrara; Caterina Mariotti; Lucia Morandi; Valeria Tiranti; Massimo Zeviani
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: Johannes N Spelbrink; FY Li; Valeria Tiranti; Kaisu Nikali; Qiu-Ping Yuan; M Tariq; Sjoerd Wanrooij; Nuria Garrido; G Comi; L Morandi; L Santoro; A Toscano; G M Fabrizi; Hannu Somer; Rebecca Croxen; David Beeson; Joanna Poulton; Anu Suomalainen; Howard T Jacobs; Massimo Zeviani; Catharina Larsson
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: Tim Hutchin; N C Navarro-Coy; Guy Van Camp; Valeria Tiranti; Massimo Zeviani; M Schuelke; M Jaksch; VE Newton; Robert F Mueller
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: Cinzia Gellera; Barbara Castellotti; Marilisa Riggio; V Silani; L Morandi; Daniela Testa; C Casali; Franco Taroni; Stefano Di Donato; Massimo Zeviani; Caterina Mariotti
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: Vittoria Petruzzella; Rosaria Vergari; I Puzziferri; Domenico Boffoli; Eleonora Lamantea; Massimo Zeviani; Sergio Papa
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: P Corona; Carlo Antozzi; Franco Carrara; L D'Incerti; Eleonora Lamantea; Valeria Tiranti; Massimo Zeviani
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
Annals of neurology 2001;49(1):106-10.
2000: Valeria Tiranti; P Corona; M Greco; J W Taanman; Franco Carrara; Eleonora Lamantea; Leo G J Nijtmans; Graziella Uziel; Massimo Zeviani
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: G V Börner; Massimo Zeviani; Valeria Tiranti; Franco Carrara; S Hoffmann; Klaus-Dieter Gerbitz; H Lochmüller; D Pongratz; Thomas Klopstock; Atle Melberg; Elisabeth Holme; S Pääbo
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
Human molecular genetics 2000;9(4):467-75.
1999: Massimo Zeviani; P Corona; Leo G J Nijtmans; Valeria Tiranti
Nuclear gene defects in mitochondrial disorders.
Italian journal of neurological sciences 1999;20(6):401-8.
1999: Valeria Tiranti; C Galimberti; Leo G J Nijtmans; S Bovolenta; M P Perini; Massimo Zeviani
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
Human molecular genetics 1999;8(13):2533-40.
1999: Valeria Tiranti; Michaela Jaksch; Sabine Hofmann-Thiel; C Galimberti; K Hoertnagel; L Lulli; Peter Freisinger; Laurence A Bindoff; Klaus-Dieter Gerbitz; G P Comi; Graziella Uziel; Massimo Zeviani; Thomas Meitinger
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: Valeria Tiranti; Franco Carrara; Paolo Confalonieri; Marina Mora; R M Maffei; Eleonora Lamantea; Massimo Zeviani
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: Anja T Rovio; Valeria Tiranti; AL Bednarz; Anu Suomalainen; Johannes N Spelbrink; N Lecrenier; Atle Melberg; Massimo Zeviani; Joanna Poulton; Françoise Foury; Howard T Jacobs
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: Vittoria Petruzzella; Valeria Tiranti; P Fernandez; P Ianna; Rosalba Carrozzo; Massimo Zeviani
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: Valeria Tiranti; K Hoertnagel; Rosalba Carrozzo; C Galimberti; M Munaro; M Granatiero; L Zelante; P Gasparini; R Marzella; M Rocchi; M P Bayona-Bafaluy; J A Enriquez; Graziella Uziel; E Bertini; Carlo Dionisi Vici; B Franco; Thomas Meitinger; Massimo Zeviani
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
American journal of human genetics 1998;63(6):1609-21.
1998: Massimo Zeviani; Valeria Tiranti; C Piantadosi
Mitochondrial disorders.
Medicine 1998;77(1):59-72.
1998: Valeria Tiranti; L D'Agruma; Davide Pareyson; Marina Mora; Franco Carrara; L Zelante; P Gasparini; Massimo Zeviani
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Annals of neurology 1998;43(1):98-101.
1997: Graziella Uziel; Isabella Moroni; Eleonora Lamantea; G M Fratta; Elisa F M Ciceri; Franco Carrara; Massimo Zeviani
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: Massimo Zeviani; Vittoria Petruzzella; Rosalba Carrozzo
Disorders of nuclear-mitochondrial intergenomic signalling.
Journal of bioenergetics and biomembranes 1997;29(2):121-30.
1997: Massimo Zeviani; P Fernandez-Silva; V Tiranti
Disorders of mitochondria and related metabolism.
Current opinion in neurology 1997;10(2):160-7.
1997: Valeria Tiranti; Anna Savoia; F Forti; Maria D'Apolito; Marta Centra; M Rocchi; Massimo Zeviani
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: Massimo Zeviani; Carlo Antozzi
Mitochondrial disorders.
Molecular human reproduction 1997;3(2):133-48.
1997: M Munaro; Valeria Tiranti; D Sandonà; Eleonora Lamantea; Graziella Uziel; R Bisson; Massimo Zeviani
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: Alessandro Malandrini; Paola Carrera; Silvia Palmeri; Tiziana Cavallaro; Gian Maria Fabrizi; Marcello Villanova; M Fattapposta; L Vismara; V Brancolini; P Tanganelli; A Calì; Cristoforo Morocutti; Massimo Zeviani; M Ferrari; Gianni Guazzi
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy.
Acta neuropathologica 1996;92(2):115-22.
1996: J A Kaukonen; P Amati; Anu Suomalainen; A Rötig; M G Piscaglia; F Salvi; J Weissenbach; G Fratta; G Comi; Leena Peltonen; Massimo Zeviani
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
American journal of human genetics 1996;58(4):763-9.
1996: Massimo Zeviani; B Bertagnolio; Graziella Uziel
Neurological presentations of mitochondrial diseases.
Journal of inherited metabolic disease 1996;19(4):504-20.
1995: Valeria Tiranti; M Munaro; Dorianna Sandonà; Eleonora Lamantea; M Rimoldi; S DiDonato; R Bisson; Massimo Zeviani
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: C Mariotti; Graziella Uziel; Franco Carrara; Marina Mora; A Prelle; Valeria Tiranti; S DiDonato; Massimo Zeviani
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: G M Fabrizi; Valeria Tiranti; C Mariotti; G C Guazzi; Alessandro Malandrini; S DiDonato; Massimo Zeviani
Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.
Journal of neurology 1995;242(8):490-6.
1995: Valeria Tiranti; E Rossi; M Rocchi; S DiDonato; O Zuffardi; Massimo Zeviani
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32.
Genomics 1995;27(3):555-7.
1995: Massimo Zeviani; P Amati; G Comi; G Fratta; C Mariotti; Valeria Tiranti
Searching for genes affecting the structural integrity of the mitochondrial genome.
Biochimica et biophysica acta 1995;1271(1):153-8.
1995: Anu Suomalainen; J Kaukonen; P Amati; R Timonen; M Haltia; J Weissenbach; Massimo Zeviani; H Somer; Leena Peltonen
An autosomal locus predisposing to deletions of mitochondrial DNA.
Nature genetics 1995;9(2):146-51.
1995: Valeria Tiranti; E Rossi; A Ruiz-Carrillo; G Rossi; M Rocchi; S DiDonato; O Zuffardi; Massimo Zeviani
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: Massimo Zeviani; P Rustin; Carlo Antozzi; G M Fratta; C Mariotti; A Prelle
OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.
Muscle & nerve. Supplement 1995;(3):S170-4.
1995: Massimo Zeviani; C Mariotti; Carlo Antozzi; G M Fratta; P Rustin; A Prelle
OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.
Muscle & nerve. Supplement 1995;3():S170-4.
1994: Massimo Zeviani; P Amati; A Savoia
Mitochondrial myopathies.
Current opinion in rheumatology 1994;6(6):559-67.
1994: C Mariotti; Valeria Tiranti; Franco Carrara; B Dallapiccola; S DiDonato; Massimo Zeviani
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: Alessandro Prelle; G Fagiolari; N Checcarelli; Maurizio Moggio; A Battistel; G P Comi; Paola Bazzi; Andreina Bordoni; Massimo Zeviani; Guglielmo Scarlato
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.
Acta neuropathologica 1994;87(4):371-6.
1993: S DiDonato; Massimo Zeviani; P Giovannini; N Savarese; M Rimoldi; C Mariotti; Floriano Girotti; T Caraceni
Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients.
Neurology 1993;43(11):2262-8.
1993: Valeria Tiranti; M Rocchi; S DiDonato; Massimo Zeviani
Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB).
Gene 1993;126(2):219-25.
1993: Silvana Franceschetti; Carlo Antozzi; Simona Binelli; Franco Carrara; Nardo Nardocci; Massimo Zeviani; G Avanzini
Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.
Acta neurologica Scandinavica 1993;87(3):219-23.
1993: Massimo Zeviani; F Muntoni; N Savarese; G Serra; Valeria Tiranti; Franco Carrara; C Mariotti; S DiDonato
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: Valeria Tiranti; B Barat-Gueride; Janetta Bijl; S DiDonato; Massimo Zeviani
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: Massimo Zeviani; Cinzia Gellera; Carlo Antozzi; M Rimoldi; Lucia Morandi; F Villani; Valeria Tiranti; S DiDonato
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).
Lancet 1991;338(8760):143-7.
1991: Serenella Servidei; Massimo Zeviani; G Manfredi; Enzo Ricci; G Silvestri; E Bertini; Cinzia Gellera; S Di Mauro; Stefano Di Donato; P Tonali
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.
Neurology 1991;41(7):1053-9.
1991: Gaetano Finocchiaro; Massimo Zeviani; Barbara Garavaglia; Cinzia Gellera; B Bertagnolio; M Rimoldi; Stefano Di Donato
[Metabolic myopathies].
Minerva pediatrica 1991;43(3):81-9.
1991: Massimo Zeviani; P Amati; Nereo Bresolin; Carlo Antozzi; G Piccolo; A Toscano; S DiDonato
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: Massimo Zeviani; S DiDonato
Neurological disorders due to mutations of the mitochondrial genome.
Neuromuscular disorders : NMD 1991;1(3):165-72.
1990: Massimo Zeviani; Nereo Bresolin; Cinzia Gellera; Andreina Bordoni; M Pannacci; P Amati; M Moggio; Serenella Servidei; Guglielmo Scarlato; S DiDonato
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: Massimo Zeviani; Cinzia Gellera; M Pannacci; Graziella Uziel; A Prelle; Serenella Servidei; S DiDonato
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
Annals of neurology 1990;28(1):94-7.
1990: Cinzia Gellera; Graziella Uziel; M Rimoldi; Massimo Zeviani; A Laverda; Franco Carrara; S DiDonato
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Neurology 1990;40(3 Pt 1):495-9.
1989: Massimo Zeviani; Serenella Servidei; Cinzia Gellera; E Bertini; S DiMauro; S DiDonato
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
Nature 1989;339(6222):309-11.