Multi-system neurological disease is common in patients with OPA1 mutations P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ... Brain 133 (3), 771-786, 2010 | 445 | 2010 |
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy C Giordano, L Iommarini, L Giordano, A Maresca, A Pisano, ML Valentino, ... Brain 137 (2), 335-353, 2014 | 294 | 2014 |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 213 | 2015 |
OPA1 isoforms in the hierarchical organization of mitochondrial functions V Del Dotto, P Mishra, S Vidoni, M Fogazza, A Maresca, L Caporali, ... Cell reports 19 (12), 2557-2571, 2017 | 206 | 2017 |
Pharmacological inhibition of necroptosis protects from dopaminergic neuronal cell death in Parkinson’s disease models A Iannielli, S Bido, L Folladori, A Segnali, C Cancellieri, A Maresca, ... Cell reports 22 (8), 2066-2079, 2018 | 192 | 2018 |
Syndromic parkinsonism and dementia associated with OPA1 missense mutations V Carelli, O Musumeci, L Caporali, C Zanna, C La Morgia, V Del Dotto, ... Annals of neurology 78 (1), 21-38, 2015 | 182 | 2015 |
Infant and adult gut microbiome and metabolome in rural Bassa and urban settlers from Nigeria FA Ayeni, E Biagi, S Rampelli, J Fiori, M Soverini, HJ Audu, S Cristino, ... Cell reports 23 (10), 3056-3067, 2018 | 156 | 2018 |
The optic nerve: a “mito-window” on mitochondrial neurodegeneration A Maresca, C La Morgia, L Caporali, ML Valentino, V Carelli Molecular and Cellular Neuroscience 55, 62-76, 2013 | 120 | 2013 |
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy SL Stenton, NL Sheremet, CB Catarino, NA Andreeva, Z Assouline, ... The Journal of Clinical Investigation 131 (6), 2021 | 115 | 2021 |
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation R Santarelli, R Rossi, P Scimemi, E Cama, ML Valentino, C La Morgia, ... Brain 138 (3), 563-576, 2015 | 102 | 2015 |
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy R De Giorgio, L Pironi, R Rinaldi, E Boschetti, L Caporali, M Capristo, ... Annals of neurology 80 (3), 448-455, 2016 | 95 | 2016 |
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy P Barboni, ML Valentino, C La Morgia, M Carbonelli, G Savini, A De Negri, ... Brain 136 (2), e231-e231, 2013 | 88 | 2013 |
Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations V Carelli, A Maresca, L Caporali, S Trifunov, C Zanna, M Rugolo The international journal of biochemistry & cell biology 63, 21-24, 2015 | 83 | 2015 |
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated? A Maresca, M Zaffagnini, L Caporali, V Carelli, C Zanna Frontiers in genetics 6, 90, 2015 | 83 | 2015 |
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation 130 (1), 108-125, 2020 | 79 | 2020 |
Incomplete penetrance in mitochondrial optic neuropathies L Caporali, A Maresca, M Capristo, V Del Dotto, F Tagliavini, ... Mitochondrion 36, 130-137, 2017 | 73 | 2017 |
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion V Carelli, P d’Adamo, ML Valentino, C La Morgia, FN Ross-Cisneros, ... Brain 139 (3), e17-e17, 2016 | 70 | 2016 |
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation P Barboni, G Savini, ML Cascavilla, L Caporali, J Milesi, E Borrelli, ... American journal of ophthalmology 158 (3), 628-636. e3, 2014 | 69 | 2014 |
Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma L Morandi, A Righi, F Maletta, P Rucci, F Pagni, M Gallo, S Rossi, ... Endocrine-related cancer 24 (2), 107-117, 2017 | 60 | 2017 |
‘Behr syndrome’ with OPA1 compound heterozygote mutations V Carelli, M Sabatelli, R Carrozzo, T Rizza, S Schimpf, B Wissinger, ... Brain 138 (1), e321-e321, 2015 | 56 | 2015 |