Leonardo Caporali
Leonardo Caporali
IRCCS Istituto delle Scienze Neurologiche di Bologna
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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
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
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
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
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
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
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
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
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
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
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
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
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
A Maresca, M Zaffagnini, L Caporali, V Carelli, C Zanna
Frontiers in genetics 6, 132809, 2015
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
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
Incomplete penetrance in mitochondrial optic neuropathies
L Caporali, A Maresca, M Capristo, V Del Dotto, F Tagliavini, ...
Mitochondrion 36, 130-137, 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
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
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
‘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
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