Eva Trevisson
Eva Trevisson
Assistant professor of Medical Genetics, Dept. of Woman and Child Health, University of Padova, Italy
Verified email at unipd.it
Cited by
Cited by
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
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
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
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
Genetic bases and clinical manifestations of coenzyme Q 10 (CoQ 10) deficiency
MA Desbats, G Lunardi, M Doimo, E Trevisson, L Salviati
Journal of inherited metabolic disease 38 (1), 145-156, 2015
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
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
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
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
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
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
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
Mutant COQ2 in multiple-system atrophy [Comment letter]
M Sharma, G Wenning, R Kruger, BPC van de Warrenburg
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
Coenzyme Q deficiency in muscle
E Trevisson, S DiMauro, P Navas, L Salviati
Current opinion in neurology 24 (5), 449-456, 2011
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene
E Trevisson, L Salviati, MC Baldoin, I Toldo, A Casarin, S Sacconi, ...
Human mutation 28 (7), 694-702, 2007
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
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis
A Casarin, JC Jimenez-Ortega, E Trevisson, V Pertegato, M Doimo, ...
Biochemical and biophysical research communications 372 (1), 35-39, 2008
A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease
L Salviati, E Trevisson, MC Baldoin, I Toldo, S Sartori, M Calderone, ...
Neurogenetics 8 (1), 57-60, 2007
Expanding the mutational spectrum of LZTR1 in schwannomatosis
I Paganini, VY Chang, GL Capone, J Vitte, M Benelli, L Barbetti, R Sestini, ...
European Journal of Human Genetics 23 (7), 963-968, 2015
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