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1

Copper and bezafibrate cooperate to rescue cytochromecoxidase deficiency in cells of patients withsco2mutations

Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, S

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 482 KB

english, 2012

2

Genetic bases and clinical manifestations of coenzyme Q10(CoQ10) deficiency

Desbats, Maria Andrea, Lunardi, Giada, Doimo, Mara, Trevisson, Eva, Salviati, Leonardo

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 734 KB

english, 2015

3

[JIMD Reports] || Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

Année:

2015

Langue:

english

Fichier:

PDF, 497 KB

english, 2015

4

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated withOPA1mutations

Alessia Nasca,Teresa Rizza,Mara Doimo,Andrea Legati…

Journal:

Orphanet Journal of Rare Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 1.93 MB

english, 2017

5

X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

Alberto Casarin, Francesca Rusalen, Mara Doimo, Eva Trevisson, Silvia Carraro, Maurizio Clementi, Romano Tenconi, Eugenio Baraldi, Leonardo Salviati

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

6

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria

Mara Doimo, Eva Trevisson, Geppo Sartori, Alberto Burlina, Leonardo Salviati

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 65 KB

english, 2012

7

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

Alberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, Vanessa Pertegato, Mara Doimo, Maria Lara Ferrero-Gomez, Sara Abbadi, Rafael Artuch, Catarina Quinzii, Michio Hirano, Giuseppe Basso, Carlos

Journal:

Biochemical and Biophysical Research Communications

Année:

2008

Langue:

english

Fichier:

PDF, 731 KB

english, 2008

8

Functional Analysis of Missense Mutations of OAT , Causing Gyrate Atrophy of Choroid and Retina

Doimo, Mara, Desbats, Maria Andrea, Baldoin, Maria Cristina, Lenzini, Elisabetta, Basso, Giuseppe, Murphy, Elaine, Graziano, Claudio, Seri, Marco, Burlina, Alberto, Sartori, Geppo, Trevisson, Eva, Sal

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 362 KB

english, 2013

9

Pontocerebellar hypoplasia type 6 caused by mutations inRARS2: definition of the clinical spectrum and molecular findings in five patients

Cassandrini, Denise, Cilio, Maria Roberta, Bianchi, Marzia, Doimo, Mara, Balestri, Martina, Tessa, Alessandra, Rizza, Teresa, Sartori, Geppo, Meschini, Maria Chiara, Nesti, Claudia, Tozzi, Giulia, Pet

Journal:

Journal of Inherited Metabolic Disease

Année:

2013

Langue:

english

Fichier:

PDF, 448 KB

english, 2013

10

AMBULATORY CARDIAC REHABILITATION IN HIGH RISK PATIENTS WITH DIABETES: DATA FROM A REGISTRY OF ALL COMERS PATIENTS AFTER CORONARY REVASCULARIZATION

Della Mattia, Alessio, Maras, Patrizia, Doimo, Sara, Salame, Kareem, Sinagra, Gianfranco

Journal:

Journal of the American College of Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 146 KB

english, 2013

11

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

Doimo, Mara, Trevisson, Eva, Airik, Rannar, Bergdoll, Marc, Santos-Ocaña, Carlos, Hildebrandt, Friedhelm, Navas, Placido, Pierrel, Fabien, Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2014

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2014

12

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez,

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2015

13

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

Nguyen, Theresa P.T., Casarin, Alberto, Desbats, Maria Andrea, Doimo, Mara, Trevisson, Eva, Santos-Ocaña, Carlos, Navas, Placido, Clarke, Catherine F., Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Année:

2014

Langue:

english

Fichier:

PDF, 2.15 MB

english, 2014

14

Genetics of Coenzyme Q10 Deficiency

Doimo, Mara, Desbats, Maria A., Cerqua, Cristina, Cassina, Matteo, Trevisson, Eva, Salviati, Leonardo

Journal:

Molecular Syndromology

Année:

2014

Langue:

english

Fichier:

PDF, 836 KB

english, 2014

15

Ambulatory cardiac rehabilitation in elderly patients after coronary revascularization: one-year follow up and outcome

Maras, P., Della Mattia, A., Doimo, S., Salame, K., Sinagra, G.

Journal:

European Heart Journal

Année:

2013

Langue:

english

Fichier:

PDF, 57 KB

english, 2013

16

The COQ2 genotype predicts the severity of coenzyme Q 10 deficiency

Desbats, Maria Andrea, Morbidoni, Valeria, Silic-Benussi, Micol, Doimo, Mara, Ciminale, Vincenzo, Cassina, Matteo, Sacconi, Sabrina, Hirano, Michio, Basso, Giuseppe, Pierrel, Fabien, Navas, Placido, S

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 914 KB

english, 2016

17

PREDICTORS OF MAJOR ADVERSE CARDIAC EVENTS IN LONG-TERM FOLLOW-UP AFTER CARDIAC REHABILITATION

Doimo, Sara, Maras, Patrizia, Barbati, Giulia, Sinagra, Gianfranco

Journal:

Journal of the American College of Cardiology

Année:

2017

Langue:

english

Fichier:

PDF, 327 KB

english, 2017

18

THE CLOSE RELATIONSHIP BETWEEN DRUG INTOLERANCE AND MAJOR CARDIAC AND CEREBROVASCULAR EVENTS AFTER AN ACUTE CORONARY SYNDROME OR CORONARY REVASCULARIZATION

Doimo, Sara, Albani, Stefano, Altinier, Alessandro, Maras, Patrizia, Barbati, Giulia, Sinagra, Gianfranco

Journal:

Journal of the American College of Cardiology

Année:

2017

Langue:

english

Fichier:

PDF, 375 KB

english, 2017

19

‘PERFSCORE’ – a multidimensional score

Maras, Patrizia, Doimo, Sara, Altinier, Alessando, Della Mattia, Alessio, Scudeller, Luigia, Sinagra, Gianfranco, Klersy, Catherine

Journal:

Journal of Cardiovascular Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 336 KB

english, 2017

20

Mutations in COQ8B (ADCK4) found in patients with steroid resistant nephrotic syndrome alter COQ8B function

Vazquez Fonseca, Luis, Doimo, Mara, Calderan, Cristina, Desbats, Maria Andrea, Acosta, Manuel J., Cerqua, Cristina, Cassina, Matteo, Ashraf, Shazia, Hildebrandt, Friedhelm, Sartori, Geppo, Navas, Plac

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2017

21

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2

Cerqua, Cristina, Morbidoni, Valeria, Desbats, Maria Andrea, Doimo, Mara, Frasson, Chiara, Sacconi, Sabrina, Baldoin, Maria Cristina, Sartori, Geppo, Basso, Giuseppe, Salviati, Leonardo, Trevisson, Ev

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2018

22

Early occurrence of drug intolerance as risk factor during follow up in patients with acute coronary syndrome or coronary revascularization

Albani, Stefano, Fabris, Enrico, Doimo, Sara, Barbati, Giulia, Perkan, Andrea, Merlo, Marco, Gatti, Giuseppe, Di Lenarda, Andrea, van’t Hof, Arnoud, Maras, Patrizia, Sinagra, Gianfranco

Journal:

European Heart Journal - Cardiovascular Pharmacotherapy

Année:

2018

Langue:

english

Fichier:

PDF, 459 KB

english, 2018

23

Impact of ambulatory cardiac rehabilitation on cardiovascular outcomes: a long-term follow-up study

Doimo, Sara, Fabris, Enrico, Piepoli, Massimo, Barbati, Giulia, Antonini-Canterin, Francesco, Bernardi, Guglielmo, Maras, Patrizia, Sinagra, Gianfranco

Journal:

European Heart Journal

Année:

2018

Langue:

english

Fichier:

PDF, 382 KB

english, 2018

24

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL

Al-Behadili, Ali, Uhler, Jay P, Berglund, Anna-Karin, Peter, Bradley, Doimo, Mara, Reyes, Aurelio, Wanrooij, Sjoerd, Zeviani, Massimo, Falkenberg, Maria

Journal:

Nucleic Acids Research

Année:

2018

Langue:

english

Fichier:

PDF, 4.32 MB

english, 2018

25

Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina

Montioli, Riccardo, Desbats, Maria Andrea, Grottelli, Silvia, Doimo, Mara, Bellezza, Ilaria, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2018

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2018

26

Prognostic Role of Left Ventricular Dysfunction in Patients with Coronary Artery Disease after an Ambulatory Cardiac Rehabilitation Program

Doimo, Sara, Fabris, Enrico, Chiapolino, Sabrina, Barbati, Giulia, Priolo, Luigi, Korcova, Renata, Perkan, Andrea, Maras, Patrizia, Sinagra, Gianfranco

Journal:

The American Journal of Cardiology

Année:

2019

Langue:

english

Fichier:

PDF, 911 KB

english, 2019

27

Quinazoline Ligands Induce Cancer Cell Death through Selective STAT3 Inhibition and G-Quadruplex Stabilization

Jamroskovic, Jan, Doimo, Mara, Chand, Karam, Obi, Ikenna, Kumar, Rajendra, BrÃ¤nnstrÃ¶m, Kristoffer, HedenstrÃ¶m, Mattias, Nath Das, Rabindra, Akhunzianov, Almaz, Deiana, Marco, Kasho, Kazutoshi, Suli

Journal:

Journal of the American Chemical Society

Année:

2020

Langue:

english

Fichier:

PDF, 5.93 MB

english, 2020

28

The Human Mitochondrial Genome || mtDNA replication, maintenance, and nucleoid organization

Année:

2020

Fichier:

PDF, 1.39 MB

2020