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1

Mitochondrial diseases

Gorman, Gráinne S., Chinnery, Patrick F., DiMauro, Salvatore, Hirano, Michio, Koga, Yasutoshi, McFarland, Robert, Suomalainen, Anu, Thorburn, David R., Zeviani, Massimo, Turnbull, Douglass M.

Journal:

Nature Reviews Disease Primers

Year:

2016

Language:

english

File:

PDF, 2.75 MB

english, 2016

2

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy

Dr. Massimo Zeviani, Dr. Caterina Mariotti, Dr. Carlo Antozzi, Dr. Giovanni Matteo Fratta, Dr. Pierre Rustin, Dr. Alessandro Prelle

Journal:

Year:

1995

Language:

english

File:

PDF, 408 KB

english, 1995

3

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

Pegoraro, Elena, Carelli, Valerio, Zeviani, Massimo, Cortelli, Pietro, Montagna, Pasquale, Barboni, Piero, Angelini, Corrado, Hoffman, Eric P.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 719 KB

1996

4

Metabolic myopathies

Dr. Salvatore DiMauro, Armand F. Miranda, Saburo Sakoda, Eric A. Schon, Serenella Servidei, Sara Shanske, Massimo Zeviani, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.11 MB

english, 1986

5

Effects of thyroid hormones on the biochemical specialization of human muscle fibers

Dr. Giovanni Salviati, Dr. Massimo Zeviani, Dr. Romeo Betto, Dr. Davide Nacamulli, Professor Benedetto Busnardo

Journal:

Year:

1985

Language:

english

File:

PDF, 732 KB

english, 1985

6

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

Enrico Baruffini, Rita Horvath, Cristina Dallabona, Birgit Czermin, Eleonora Lamantea, Laurence Bindoff, Federica Invernizzi, Iliana Ferrero, Massimo Zeviani, Tiziana Lodi

Journal:

Year:

2011

Language:

english

File:

PDF, 430 KB

english, 2011

7

Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome

Georg M. Stettner, Carlo Viscomi, Massimo Zeviani, Ekkehard Wilichowski, Mathias Dutschmann

Journal:

Year:

2011

Language:

english

File:

PDF, 1.19 MB

english, 2011

8

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

Caterina Mariotti, Nicola Savarese, Anu Suomalainen, Marco Rimoldi, Giacomo Comi, Alessandro Prelle, Carlo Antozzi, Serena Servidei, Laura Jarre, Stefano DiDonato, Massimo Zeviani

Journal:

Journal of Neurology

Year:

1995

Language:

english

File:

PDF, 928 KB

english, 1995

9

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

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 Tirant

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2009

Language:

english

File:

PDF, 1.79 MB

english, 2009

10

Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap

Gigliola Serra, Rosa Piccinnu, Massimo Tondi, Francesco Muntoni, Massimo Zeviani, Camillo Mastropaolo

Journal:

Brain and Development

Year:

1996

Language:

english

File:

PDF, 773 KB

english, 1996

11

Depletion of mtDNA: Syndromes and genes

Simona Alberio, Rossana Mineri, Valeria Tiranti, Massimo Zeviani

Journal:

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

12

64 Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah Calvo, Mohit Jain, Xiaohui Xie, Sunil A. Sheth, Betty Chang, Olga A. Goldberger, Antonella Spinazzola, Massimo Zeviani, Steven A. Carr, Vamsi K. Mootha

Journal:

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

13

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON

Gavin Hudson, Patrick Yu-Wai-Man, Philip G. Griffiths, Rita Horvath, Valerio Carelli, Massimo Zeviani, Patrick F. Chinnery

Journal:

Year:

2011

Language:

english

File:

PDF, 145 KB

english, 2011

14

A newly discovered protein is responsible for a progressive mitochondrial encephalomyopathy associated with severe complex III deficiency

Daniele Ghezzi⁎, Paola Arzuffi, Costanza Lamperti, Daria Diodato, Caterina Mariotti, Caterina Darè, Mauro A. Zordan, Rodolfo Costa, Massimo Zeviani

Journal:

Year:

2011

Language:

english

File:

PDF, 60 KB

english, 2011

15

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

Carlo Viscomi⁎, Alberto Burlina, Imad Dweikat, Mario Savoiardo, Valeria Tiranti, Massimo Zeviani

Journal:

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

16

Isolation of mitochondria for biogenetical studies: An update

Erika Fernández-Vizarra, Gustavo Ferrín, Acisclo Pérez-Martos, Patricio Fernández-Silva, Massimo Zeviani, José Antonio Enríquez

Journal:

Year:

2010

Language:

english

File:

PDF, 1.93 MB

english, 2010

17

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1

Daniele Ghezzi⁎, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

18

The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

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,

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 2.30 MB

english, 2004

19

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

Lamperti, Costanza, Diodato, Daria, Lamantea, Eleonora, Carrara, Franco, Ghezzi, Daniele, Mereghetti, Paolo, Rizzi, Romana, Zeviani, Massimo

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 634 KB

english, 2012

20

Phenylbutyrate for therapy of pyruvate dehydrogenase complex deficiency

Bourton, Audrey, Bonafé, Luisa, Baumgartner, Matthias, Kerr, Douglas, Zeviani, Massimo, Manco, Giuseppe, Brivet, Michele, Brunetti-Pierri, Nicola

Journal:

Year:

2013

Language:

english

File:

PDF, 52 KB

english, 2013

21

Mitochondrial myopathy biomarker Fibroblast growth factor 21 is induced by muscle mtDNA instability and translation defects

Lehtonen, Jenni M., Forsström, Saara, Viscomi, Carlo, Zeviani, Massimo, Moraes, Carlos, Nakada, Kazuto, Smeitink, Jan, Wiesner, Rudolf J., Baris, Olivier, Isoniemi, Helena, Höckerstedt, Krister, Öster

Journal:

Year:

2015

Language:

english

File:

PDF, 53 KB

english, 2015

22

Mitochondrial disorders

Zeviani, Massimo, Carelli, Valerio

Journal:

Current Opinion in Neurology

Year:

2007

Language:

english

File:

PDF, 150 KB

english, 2007

23

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

Bianciardi, Laura, Imperatore, Valentina, Fernandez-Vizarra, Erika, Lopomo, Angela, Falabella, Micol, Furini, Simone, Galluzzi, Paolo, Grosso, Salvatore, Zeviani, Massimo, Renieri, Alessandra, Mari, F

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 1.96 MB

english, 2016

24

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

Dogan, Sukru Anil, Cerutti, Raffaele, Benincá, Cristiane, Brea-Calvo, Gloria, Jacobs, Howard Trevor, Zeviani, Massimo, Szibor, Marten, Viscomi, Carlo

Journal:

Cell Metabolism

Year:

2018

Language:

english

File:

PDF, 3.79 MB

english, 2018

25

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Civiletto, Gabriele, Dogan, Sukru Anil, Cerutti, Raffaele, Fagiolari, Gigliola, Moggio, Maurizio, Lamperti, Costanza, Benincá, Cristiane, Viscomi, Carlo, Zeviani, Massimo

Journal:

EMBO Molecular Medicine

Year:

2018

Language:

english

File:

PDF, 4.20 MB

english, 2018

26

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria

Posse, Viktor, Al-Behadili, Ali, Uhler, Jay P., Clausen, Anders R., Reyes, Aurelio, Zeviani, Massimo, Falkenberg, Maria, Gustafsson, Claes M., Filipovska, Aleksandra

Journal:

Year:

2019

Language:

english

File:

PDF, 2.20 MB

english, 2019

27

Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy!

Viscomi, Carlo, Zeviani, Massimo

Journal:

Cell Metabolism

Year:

2019

Language:

english

File:

PDF, 589 KB

english, 2019

28

RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA

Reyes, Aurelio, Rusecka, Joanna, ToÅska, Katarzyna, Zeviani, Massimo

Journal:

Frontiers in Genetics

Year:

2020

Language:

english

File:

PDF, 2.76 MB

english, 2020

29

Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis

Nadine S. Henderson, Leo G. J. Nijtmans, J. Gordon Lindsay, Eeleonora Lamantea, Massimo Zeviani, Ian J. Holt

Journal:

ELECTROPHORESIS

Year:

2000

Language:

english

File:

PDF, 245 KB

english, 2000

30

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

Paola Corona, Carlo Antozzi, Franco Carrara, Ludovico D'Incerti, Eleonora Lamantea, Valeria Tiranti, Massimo Zeviani

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 6.37 MB

english, 2001

31

Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry?

Carlos T. Moraes, Massimo Zeviani, Eric A. Schon, Robert O. Hickman, Brien W. Vlcek, Dr. Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 582 KB

english, 1991

32

MRI in Leigh syndrome with SURF1 gene mutation

Mario Savoiardo, Massimo Zeviani, Graziella Uziel, Laura Farina

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 61 KB

english, 2002

33

The V368i mutation in Twinkle does not segregate with adPEO

Joaquín Arenas, Egill Briem, Henrik Dahl, Wendy Hutchison, Sharon Lewis, Miguel A. Martin, Hans Spelbrink, Valeria Tiranti, Howy Jacobs, Massimo Zeviani

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 43 KB

english, 2003

34

Genotypes from patients indicate no paternal mitochondrial DNA contribution

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

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

35

Sequence analysis of familial PEO shows additional mutations associated with the 752C→T and 3527C→T changes in the POLG1 gene

Eleonora Lamantea, Massimo Zeviani

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

36

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

Massimo Zeviani, Ikuya Nonaka, Euardo Bonilla, Eizo Okino, Dr Maurizio Moggio, Sara Jones, DR Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1985

Language:

english

File:

PDF, 628 KB

english, 1985

37

Mitochondrial myopathies

Dr Salvatore DiMauro, Eduardo Bonilla, Massimo Zeviani, Masanori Nakagawa, Darryl C. DeVivo

Journal:

Annals of Neurology

Year:

1985

Language:

english

File:

PDF, 2.75 MB

english, 1985

38

Cytochrome c oxidase deficiency in leigh syndrome

Dr Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, Maja DiRocco, Darryl C. DeVivo, Stefano DiDonato, Graziella Uziel, Kenneth Berry, George Hoganson, Stanley D. Johnsen, Peter C. Johnson

Journal:

Annals of Neurology

Year:

1987

Language:

english

File:

PDF, 1.08 MB

english, 1987

39

McArdle's disease: Biochemical and molecular genetic studies

Serenella Servidei, Sara Shanske, Massimo Zeviani, Roger Lebo, Robert Fletterick, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 810 KB

english, 1988

40

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics

Anne Lombes, Jerry R. Mendell, Hirofumi Nakase, Richard J. Barohn, Eduardo Bonilla, Massimo Zeviani, Allan J. Yates, Jennifer Omerza, Tracy L. Gales, Keichi Nakahara, Rosario Rizzuto, W. King Engel, D

Journal:

Annals of Neurology

Year:

1989

Language:

english

File:

PDF, 1.69 MB

english, 1989

41

A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation

Valeria Tiranti, Leonardo D'Agruma, Davide Pareyson, Marina Mora, Franco Carrara St, Leopoldo Zelante, Paolo Gasparini, Dr. Massimo Zeviani

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 390 KB

english, 1998

42

Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease

Dr Giacomo P. Comi, Andreina Bordoni, Sabrina Salani, Liliana Franceschina, Monica Sciacco, Alessandro Prelle, Francesco Fortunato, Massimo Zeviani, Laura Napoli, Nereo Bresolin, Maurizio Moggio, Carl

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 1023 KB

english, 1998

43

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients

Giovanna Zorzi, Barbara Garavaglia, Federica Invernizzi, Floriano Girotti, Paola Soliveri, Massimo Zeviani, Lucia Angelini, Nardo Nardocci

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 1.75 MB

english, 2002

44

Molecular defects in cytochrome oxidase in mitochondrial diseases

Salvatore DiMauro, Massimo Zeviani, Rosario Rizzuto, Anne Lombes, Hirofumi Nakase, Eduardo Bonilla, Armand Miranda, Eric Schon

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1988

Language:

english

File:

PDF, 681 KB

english, 1988

45

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study

Caterina Mariotti, Graziella Uziel, Franco Carrara, Marina Mora, Alessandro Prelle, Valeria Tiranti, Stefano DiDonato, Massimo Zeviani

Journal:

Journal of Neurology

Year:

1995

Language:

english

File:

PDF, 1016 KB

english, 1995

46

The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients

Marica Eoli, Massimo Pandolfo, Clara Milanese, Paolo Gasparini, Andrea Salmaggi, Massimo Zeviani

Journal:

Journal of Neurology

Year:

1994

Language:

english

File:

PDF, 483 KB

english, 1994

47

Disorders of Nuclear-Mitochondrial Intergenomic Communication

Antonella Spinazzola, Massimo Zeviani

Journal:

Bioscience Reports

Year:

2007

Language:

english

File:

PDF, 179 KB

english, 2007

48

Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas

Luisa Montanini, Caroline Regna-Gladin, Marica Eoli, Ruth Albarosa, Franco Carrara, Massimo Zeviani, Maria Grazia Bruzzone, Giovanni Broggi, Amerigo Boiardi, Gaetano Finocchiaro

Journal:

Journal of Neuro-Oncology

Year:

2005

Language:

english

File:

PDF, 227 KB

english, 2005

49

Mitochondrial disorders

Massimo Zeviani, Antonella Spinazzola

Journal:

Current Neurology and Neuroscience Reports

Year:

2003

Language:

english

File:

PDF, 597 KB

english, 2003

50

Human mitochondrial complex I assembly is mediated by NDUFAF1

Rutger O. Vogel, Rolf J. R. J. Janssen, Cristina Ugalde, Melissa Grovenstein, Richard J Huijbens, Henk-Jan Visch, Lambert P. van den Heuvel, Peter H. Willems, Massimo Zeviani, Jan A. M. Smeitink, Leo

Journal:

Year:

2005

Language:

english

File:

PDF, 370 KB

english, 2005