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Leonardo Salviati
Leonardo Salviati
Professor of medical genetics, Dept. of Women and Children's Health, University of Padova
Verified email at unipd.it
Title
Cited by
Cited by
Year
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency
S Cogliati, C Frezza, ME Soriano, T Varanita, R Quintana-Cabrera, ...
Cell 155 (1), 160-171, 2013
11902013
Sarcopenia: aging-related loss of muscle mass and function
L Larsson, H Degens, M Li, L Salviati, YI Lee, W Thompson, JL Kirkland, ...
Physiological reviews 99 (1), 427-511, 2019
11352019
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
M Spinazzi, A Casarin, V Pertegato, L Salviati, C Angelini
Nature protocols 7 (6), 1235-1246, 2012
9602012
Age-associated loss of OPA1 in muscle impacts muscle mass, metabolic homeostasis, systemic inflammation, and epithelial senescence
C Tezze, V Romanello, MA Desbats, GP Fadini, M Albiero, G Favaro, ...
Cell metabolism 25 (6), 1374-1389. e6, 2017
4762017
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ...
The Journal of clinical investigation 121 (5), 2013-2024, 2011
4402011
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
C Quinzii, A Naini, L Salviati, E Trevisson, P Navas, S DiMauro, M Hirano
The American Journal of Human Genetics 78 (2), 345-349, 2006
3992006
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ...
The Journal of clinical investigation 123 (12), 5179-5189, 2013
3722013
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
F Emma, G Montini, SM Parikh, L Salviati
Nature Reviews Nephrology 12 (5), 267-280, 2016
3322016
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass
G Favaro, V Romanello, T Varanita, M Andrea Desbats, V Morbidoni, ...
Nature communications 10 (1), 2576, 2019
3262019
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
G Montini, C Malaventura, L Salviati
New England Journal of Medicine 358 (26), 2849-2850, 2008
2732008
Coenzyme Q biosynthesis in health and disease
MJ Acosta, LV Fonseca, MA Desbats, C Cerqua, R Zordan, E Trevisson, ...
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (8), 1079-1085, 2016
2692016
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
Á Rodríguez-Hernández, MD Cordero, L Salviati, R Artuch, M Pineda, ...
Autophagy 5 (1), 19-32, 2009
2402009
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency
MA Desbats, G Lunardi, M Doimo, E Trevisson, L Salviati
Journal of inherited metabolic disease 38, 145-156, 2015
2382015
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
L Salviati, S Sacconi, L Murer, G Zacchello, L Franceschini, AM Laverda, ...
Neurology 65 (4), 606-608, 2005
2192005
LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
KS Dimmer, F Navoni, A Casarin, E Trevisson, S Endele, A Winterpacht, ...
Human molecular genetics 17 (2), 201-214, 2008
2092008
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
S Sacconi, RJLF Lemmers, J Balog, PJ van Der Vliet, P Lahaut, ...
The American Journal of Human Genetics 93 (4), 744-751, 2013
2002013
Mitochondrial DNA depletion and dGK gene mutations
L Salviati, S Sacconi, M Mancuso, D Otaegui, P Camano, A Marina, ...
Annals of neurology 52 (3), 311-317, 2002
1892002
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA
M Mancuso, L Salviati, S Sacconi, D Otaegui, P Camano, A Marina, ...
Neurology 59 (8), 1197-1202, 2002
1882002
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency
CM Quinzii, LC López, RW Gilkerson, B Dorado, J Coku, AB Naini, ...
The FASEB Journal 24 (10), 3733, 2010
1872010
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency
CM Quinzii, LC López, J Von-Moltke, A Naini, S Krishna, M Schuelke, ...
The FASEB journal: official publication of the Federation of American …, 2008
1832008
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