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Eva Trevisson
Eva Trevisson
Associate Professor of Medical Genetics, Dept. of Women's and Children's Health, University of
Verified email at unipd.it - Homepage
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Cited by
Cited by
Year
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
4352011
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
3972006
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
2612016
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
2332015
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
2082008
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ...
The American Journal of Human Genetics 102 (1), 69-87, 2018
1922018
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
JM López-Martín, L Salviati, E Trevisson, G Montini, S DiMauro, C Quinzii, ...
Human molecular genetics 16 (9), 1091-1097, 2007
1592007
p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ...
European Journal of Human Genetics 23 (8), 1068-1071, 2015
1532015
A functionally dominant mitochondrial DNA mutation
S Sacconi, L Salviati, Y Nishigaki, WF Walker, E Hernandez-Rosa, ...
Human molecular genetics 17 (12), 1814-1820, 2008
1392008
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
L Salviati, E Trevisson, MAR Hernandez, A Casarin, V Pertegato, ...
Journal of medical genetics 49 (3), 187-191, 2012
1282012
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
S Sacconi, E Trevisson, L Salviati, S Aymé, O Rigal, AG Redondo, ...
Neuromuscular Disorders 20 (1), 44-48, 2010
1212010
Genetics of coenzyme q10 deficiency
M Doimo, MA Desbats, C Cerqua, M Cassina, E Trevisson, L Salviati
Molecular syndromology 5 (3-4), 156-162, 2014
1202014
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in …
M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ...
Human mutation 41 (1), 299-315, 2020
1082020
Clinical syndromes associated with Coenzyme Q10 deficiency
M Alcázar-Fabra, E Trevisson, G Brea-Calvo
Essays in biochemistry 62 (3), 377-398, 2018
982018
Primary coenzyme Q10 deficiency
L Salviati, E Trevisson, M Doimo, P Navas
GeneReviews, 2017
982017
Coenzyme Q deficiency in muscle
E Trevisson, S DiMauro, P Navas, L Salviati
Current opinion in neurology 24 (5), 449-456, 2011
912011
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
R Montero, JA Sánchez-Alcázar, P Briones, ÁR Hernández, MD Cordero, ...
Clinical biochemistry 41 (9), 697-700, 2008
892008
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency
M Doimo, E Trevisson, R Airik, M Bergdoll, C Santos-Ocaña, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (1), 1-6, 2014
822014
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
D Yubero, R Montero, MA Martín, J Montoya, A Ribes, M Grazina, ...
Mitochondrion 30, 51-58, 2016
802016
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
SR Plotkin, L Messiaen, E Legius, P Pancza, RA Avery, JO Blakeley, ...
Genetics in Medicine 24 (9), 1967-1977, 2022
782022
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