| Identification and characterization of a spinal muscular atrophy-determining gene S Lefebvre, L Bürglen, S Reboullet, O Clermont, P Burlet, L Viollet, ... Cell 80 (1), 155-165, 1995 | 4506 | 1995 |
| Mitochondrial diseases GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ... Nature reviews Disease primers 2 (1), 1-22, 2016 | 1375 | 2016 |
| Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome CT Moraes, S DiMauro, M Zeviani, A Lombes, S Shanske, AF Miranda, ... New England Journal of Medicine 320 (20), 1293-1299, 1989 | 1194 | 1989 |
| Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria JN Spelbrink, FY Li, V Tiranti, K Nikali, QP Yuan, M Tariq, S Wanrooij, ... Nature genetics 28 (3), 223-231, 2001 | 1005 | 2001 |
| Deletions of mitochondrial DNA in Kearns-Sayre syndrome M Zeviani, CT Moraes, S DiMauro, H Nakase, E Bonilla, EA Schon, ... Neurology 51 (6), 1525-1525-a, 1998 | 983 | 1998 |
| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, ... Cell 93 (6), 973-983, 1998 | 968 | 1998 |
| Mitochondrial myopathies S DiMauro, E Bonilla, M Zeviani, M Nakagawa, DC DeVivo Annals of Neurology: Official Journal of the American Neurological …, 1985 | 962 | 1985 |
| Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation JK Brunelle, EL Bell, NM Quesada, K Vercauteren, V Tiranti, M Zeviani, ... Cell metabolism 1 (6), 409-414, 2005 | 882 | 2005 |
| An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region M Zeviani, S Servidei, C Gellera, E Bertini, S DiMauro, S DiDonato Nature 339 (6222), 309-311, 1989 | 765 | 1989 |
| Role of adenine nucleotide translocator 1 in mtDNA maintenance J Kaukonen, JK Juselius, V Tiranti, A Kyttälä, M Zeviani, GP Comi, ... Science 289 (5480), 782-785, 2000 | 730 | 2000 |
| A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA EA Schon, R Rizzuto, CT Moraes, H Nakase, M Zeviani, S DiMauro Science 244 (4902), 346-349, 1989 | 730 | 1989 |
| Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides X Estivill, N Govea, A Barceló, E Perelló, C Badenas, E Romero, L Moral, ... The American Journal of Human Genetics 62 (1), 27-35, 1998 | 694 | 1998 |
| The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool A Achilli, C Rengo, C Magri, V Battaglia, A Olivieri, R Scozzari, F Cruciani, ... The American Journal of Human Genetics 75 (5), 910-918, 2004 | 643 | 2004 |
| Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ... The American Journal of Human Genetics 63 (6), 1609-1621, 1998 | 640 | 1998 |
| Mitochondrial disorders M Zeviani, S Di Donato Brain 127 (10), 2153-2172, 2004 | 625 | 2004 |
| Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the … A Torroni, M Petrozzi, L D'Urbano, D Sellitto, M Zeviani, F Carrara, ... American journal of human genetics 60 (5), 1107, 1997 | 545 | 1997 |
| MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion A Spinazzola, C Viscomi, E Fernandez-Vizarra, F Carrara, P D'Adamo, ... Nature genetics 38 (5), 570-575, 2006 | 475 | 2006 |
| Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu (UUR) M Zeviani, C Gellera, C Antozzi, M Rimoldi, L Morandi, V Tiranti, ... The Lancet 338 (8760), 143-147, 1991 | 457 | 1991 |
| Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ... Brain 129 (7), 1674-1684, 2006 | 452 | 2006 |
| Systematic identification of human mitochondrial disease genes through integrative genomics S Calvo, M Jain, X Xie, SA Sheth, B Chang, OA Goldberger, A Spinazzola, ... Nature genetics 38 (5), 576-582, 2006 | 445 | 2006 |
