| 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 | 641 | 1998 |
| Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation GC Scheper, T Van Der Klok, RJ Van Andel, CGM Van Berkel, M Sissler, ... Nature genetics 39 (4), 534-539, 2007 | 538 | 2007 |
| Cytochrome c oxidase deficiency in leigh syndrome S DiMauro, S Servidei, M Zeviani, M DiRocco, DC DeVivo, S DiDonato, ... Annals of neurology 22 (4), 498-506, 1987 | 438 | 1987 |
| Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency TB Haack, K Danhauser, B Haberberger, J Hoser, V Strecker, D Boehm, ... Nature genetics 42 (12), 1131-1134, 2010 | 319 | 2010 |
| Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey C Dionisi-Vici, C Rizzo, AB Burlina, U Caruso, G Sabetta, G Uziel, ... The Journal of pediatrics 140 (3), 321-329, 2002 | 319 | 2002 |
| Clinical and molecular findings in children with complex I deficiency M Bugiani, F Invernizzi, S Alberio, E Briem, E Lamantea, F Carrara, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1659 (2-3), 136-147, 2004 | 314 | 2004 |
| SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ... Nature genetics 41 (6), 654-656, 2009 | 289 | 2009 |
| Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor D Ghezzi, I Sevrioukova, F Invernizzi, C Lamperti, M Mora, P D'Adamo, ... The American journal of human Genetics 86 (4), 639-649, 2010 | 231 | 2010 |
| Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ... Neurology 80 (22), 2049-2054, 2013 | 207 | 2013 |
| Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies D Ghezzi, P Arzuffi, M Zordan, C Da Re, C Lamperti, C Benna, P D'Adamo, ... Nature genetics 43 (3), 259-263, 2011 | 205 | 2011 |
| Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy E Fernandez-Vizarra, M Bugiani, P Goffrini, F Carrara, L Farina, ... Human molecular genetics 16 (10), 1241-1252, 2007 | 199 | 2007 |
| Epileptic phenotypes associated with mitochondrial disorders L Canafoglia, S Franceschetti, C Antozzi, F Carrara, L Farina, T Granata, ... Neurology 56 (10), 1340-1346, 2001 | 197 | 2001 |
| The effect of genotype on the natural history of eIF2B-related leukodystrophies A Fogli, R Schiffmann, E Bertini, S Ughetto, P Combes, E Eymard-Pierre, ... Neurology 62 (9), 1509-1517, 2004 | 185 | 2004 |
| Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study C Depienne, M Bugiani, C Dupuits, D Galanaud, V Touitou, N Postma, ... The Lancet Neurology 12 (7), 659-668, 2013 | 184 | 2013 |
| Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. F Taroni, E Verderio, S Fiorucci, P Cavadini, G Finocchiaro, G Uziel, ... Proceedings of the National Academy of Sciences 89 (18), 8429-8433, 1992 | 180 | 1992 |
| Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families G Uziel, I Moroni, E Lamantea, GM Fratta, E Ciceri, F Carrara, M Zeviani Journal of Neurology, Neurosurgery & Psychiatry 63 (1), 16-22, 1997 | 177 | 1997 |
| Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations JL Orthmann-Murphy, E Salsano, CK Abrams, A Bizzi, G Uziel, ... Brain 132 (2), 426-438, 2009 | 168 | 2009 |
| Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation D Rodriguez, F Gauthier, E Bertini, M Bugiani, M Brenner, S N'guyen, ... The American Journal of Human Genetics 69 (5), 1134-1140, 2001 | 168 | 2001 |
| Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families C Mariotti, C Gellera, M Rimoldi, R Mineri, G Uziel, G Zorzi, D Pareyson, ... Neurological sciences 25, 130-137, 2004 | 166 | 2004 |
| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy E Malfatti, M Bugiani, F Invernizzi, CFM de Souza, L Farina, F Carrara, ... Brain 130 (7), 1894-1904, 2007 | 161 | 2007 |
