| 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 | 440 | 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 | 399 | 2006 |
| 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 | 271 | 2016 |
| 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 | 238 | 2015 |
| 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 | 209 | 2008 |
| 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 | 199 | 2018 |
| 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 | 160 | 2007 |
| 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 | 153 | 2015 |
| 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 | 142 | 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 | 132 | 2012 |
| 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 | 124 | 2014 |
| 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 | 122 | 2010 |
| 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 | 114 | 2020 |
| Primary coenzyme Q10 deficiency L Salviati, E Trevisson, M Doimo, P Navas GeneReviews, 2017 | 100 | 2017 |
| Clinical syndromes associated with Coenzyme Q10 deficiency M Alcázar-Fabra, E Trevisson, G Brea-Calvo Essays in biochemistry 62 (3), 377-398, 2018 | 99 | 2018 |
| Coenzyme Q deficiency in muscle E Trevisson, S DiMauro, P Navas, L Salviati Current opinion in neurology 24 (5), 449-456, 2011 | 92 | 2011 |
| 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 | 90 | 2022 |
| 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 | 90 | 2008 |
| 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 | 85 | 2014 |
| Alport syndrome: impact of digenic inheritance in patients management C Fallerini, M Baldassarri, E Trevisson, V Morbidoni, A La Manna, ... Clinical genetics 92 (1), 34-44, 2017 | 83 | 2017 |
