| Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder I Nishino, A Spinazzola, M Hirano Science 283 (5402), 689-692, 1999 | 1054 | 1999 |
| 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 | 494 | 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 | 452 | 2006 |
| Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations I Nishino, A Spinazzola, A Papadimitriou, S Hammans, I Steiner, CD Hahn, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 400 | 2000 |
| Altered thymidine metabolism due to defects of thymidine phosphorylase A Spinazzola, R Marti, I Nishino, AL Andreu, A Naini, S Tadesse, I Pela, ... Journal of Biological Chemistry 277 (6), 4128-4133, 2002 | 272 | 2002 |
| Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis J He, HM Cooper, A Reyes, M Di Re, H Sembongi, TR Litwin, J Gao, ... Nucleic acids research 40 (13), 6109-6121, 2012 | 232 | 2012 |
| Clinical and molecular features of mitochondrial DNA depletion syndromes A Spinazzola, F Invernizzi, F Carrara, E Lamantea, A Donati, M Dirocco, ... Journal of inherited metabolic disease 32, 143-158, 2009 | 226 | 2009 |
| Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency S Di Giovanni, M Mirabella, A Spinazzola, P Crociani, G Silvestri, ... Neurology 57 (3), 515-518, 2001 | 191 | 2001 |
| Disorders of nuclear-mitochondrial intergenomic signaling A Spinazzola, M Zeviani Gene 354, 162-168, 2005 | 151 | 2005 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 144 | 2017 |
| Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays R Martı, A Spinazzola, S Tadesse, I Nishino, Y Nishigaki, M Hirano Clinical chemistry 50 (1), 120-124, 2004 | 140 | 2004 |
| Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice C Viscomi, A Spinazzola, M Maggioni, E Fernandez-Vizarra, V Massa, ... Human Molecular Genetics 18 (1), 12-26, 2009 | 117 | 2009 |
| Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene G Manfredi, N Gupta, ME Vazquez-Memije, JE Sadlock, A Spinazzola, ... Journal of Biological Chemistry 274 (14), 9386-9391, 1999 | 115 | 1999 |
| Nuclear genes in mitochondrial disorders M Zeviani, A Spinazzola, V Carelli Current opinion in genetics & development 13 (3), 262-270, 2003 | 114 | 2003 |
| Mitochondrial disorders M Zeviani, V Carelli Current opinion in neurology 16 (5), 585-594, 2003 | 109 | 2003 |
| Identification of novel mutations in five patients with mitochondrial encephalomyopathy L Valente, D Piga, E Lamantea, F Carrara, G Uziel, P Cudia, A Zani, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1787 (5), 491-501, 2009 | 108 | 2009 |
| MPV17 loss causes deoxynucleotide insufficiency and slow DNA replication in mitochondria I Dalla Rosa, Y Cámara, R Durigon, CF Moss, S Vidoni, G Akman, L Hunt, ... PLoS genetics 12 (1), e1005779, 2016 | 105 | 2016 |
| Disorders from perturbations of nuclear‐mitochondrial intergenomic cross‐talk A Spinazzola, M Zeviani Journal of internal medicine 265 (2), 174-192, 2009 | 100 | 2009 |
| EFNS guidelines on the molecular diagnosis of mitochondrial disorders J Finsterer, HF Harbo, J Baets, C Van Broeckhoven, S Di Donato, ... European Journal of Neurology 16 (12), 1255-1264, 2009 | 91 | 2009 |
| EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias HF Harbo, J Finsterer, J Baets, C Van Broeckhoven, S Di Donato, ... European journal of neurology 16 (7), 777-785, 2009 | 90 | 2009 |
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