CAPORALI, LEONARDO

CAPORALI, LEONARDO  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

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Risultati 1 - 20 di 76 (tempo di esecuzione: 0.029 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
'Behr syndrome' with OPA1 compound heterozygote mutations Carelli, Valerio; Sabatelli, Mario; Carrozzo, Rosalba; Rizza, Teresa; Schimpf, Simone; Wissinger,... Bernd; Zanna, Claudia; Rugolo, Michela; La Morgia, Chiara; Caporali, Leonardo; Carbonelli, Michele; Barboni, Piero; Tonon, Caterina; Lodi, Raffaele; Bertini, Enrico 2015-01-01 BRAIN - 1.01 Articolo in rivista -
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy Palombo F.; Piccolo B.; Saccani E.; Fiorini C.; Capristo M.; Caporali L.; Pisani F.; Carelli V. 2021-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;...Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V 2014-01-01 HUMAN MUTATION - 1.01 Articolo in rivista -
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia Palombo F.; la Morgia C.; Fiorini C.; Caporali L.; Valentino M.L.; Donadio V.; Liguori R.; Carell...i V. 2022-01-01 NEUROLOGY. GENETICS - 1.01 Articolo in rivista e200004.full.pdf
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. 2021-01-01 JOURNAL OF CELLULAR AND MOLECULAR MEDICINE - 1.01 Articolo in rivista jcmm.16161.pdf
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant Boschetti, Elisa; Caporali, Leonardo; D'Angelo, Roberto; Malagelada, Carolina; Accarino, Anna; Do...tti, Maria Teresa; Costa, Roberta; Cenacchi, Giovanna; Pironi, Loris; Rinaldi, Rita; Stanghellini, Vincenzo; Ratti, Stefano; Manzoli, Lucia; Carelli, Valerio; De Giorgio, Roberto 2022-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1.01 Articolo in rivista 35-Boschetti laser microdissection 2022.pdf
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population Bacalini, Maria Giulia; Palombo, Flavia; Garagnani, Paolo; Giuliani, Cristina; Fiorini, Claudio; ...Caporali, Leonardo; Stanzani Maserati, Michelangelo; Capellari, Sabina; Romagnoli, Martina; De Fanti, Sara; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Galimberti, Daniela; Scarpini, Elio; Arcaro, Marina; Bonanni, Enrica; Siciliano, Gabriele; Maestri, Michelangelo; Guarnieri, Biancamaria; Martucci, Morena; Monti, Daniela; Carelli, Valerio; Franceschi, Claudio; La Morgia, Chiara; Santoro, Aurelia 2022-01-01 GEROSCIENCE - 1.01 Articolo in rivista s11357-021-00477-0.pdf
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions C. La Morgia; L. Caporali; F. Gandini; A. Olivieri; F. Toni; S. Nassetti;
D. Brunetto; C. Stipa;...
C. Scaduto; A. Parmeggiani; C. Tonon; R. Lodi;
A. Torroni; V. Carelli
2014-01-01 BMC NEUROLOGY - 1.01 Articolo in rivista 1471-2377-14-116.pdf
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy Caporali L.; Magri S.; Legati A.; Del Dotto V.; Tagliavini F.; Balistreri F.; Nasca A.; La Morgia... C.; Carbonelli M.; Valentino M.L.; Lamantea E.; Baratta S.; Schols L.; Schule R.; Barboni P.; Cascavilla M.L.; Maresca A.; Capristo M.; Ardissone A.; Pareyson D.; Cammarata G.; Melzi L.; Zeviani M.; Peverelli L.; Lamperti C.; Marzoli S.B.; Fang M.; Synofzik M.; Ghezzi D.; Carelli V.; Taroni F. 2020-01-01 ANNALS OF NEUROLOGY - 1.01 Articolo in rivista ana.25723.pdf
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3) La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Pater...gnani S.; Caporali L.; Tagliavini F.; Del Dotto V.; Capristo M.; Sadun F.; Barboni P.; Savini G.; Evangelisti S.; Bianchini C.; Valentino M.L.; Liguori R.; Tonon C.; Giorgi C.; Pinton P.; Lodi R.; Carelli V. 2020-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista -
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome La Morgia, Chiara; Maresca, Alessandra; Amore, Giulia; Gramegna, Laura Ludovica; Carbonelli, Mich...ele; Scimonelli, Emanuela; Danese, Alberto; Patergnani, Simone; Caporali, Leonardo; Tagliavini, Francesca; Del Dotto, Valentina; Capristo, Mariantonietta; Sadun, Federico; Barboni, Piero; Savini, Giacomo; Evangelisti, Stefania; Bianchini, Claudio; Valentino, Maria Lucia; Liguori, Rocco; Tonon, Caterina; Giorgi, Carlotta; Pinton, Paolo; Lodi, Raffaele; Carelli, Valerio 2020-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.pdf41598_2020_61735_MOESM1_ESM.docx
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy Carbonelli, M; La Morgia, C; Romagnoli, M; Amore, G; D'Agati, P; Valentino, ML; Caporali, L; Casc...avilla, ML; Battista, M; Borrelli, E; Di Renzo, A; Parisi, V; Balducci, N; Carelli, V; Barboni, P 2022-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista -
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura... Ludovica Gramegna, Fiorina Bartiromo, Caterina Tonon, Luca Morandi, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Valerio Carelli 2022-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista fgene-13-887696 (1).pdf
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions Manini, Arianna; Caporali, Leonardo; Meneri, Megi; Zanotti, Simona; Piga, Daniela; Arena, Ignazio... Giuseppe; Corti, Stefania; Toscano, Antonio; Comi, Giacomo Pietro; Musumeci, Olimpia; Carelli, Valerio; Ronchi, Dario 2022-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista -
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy Gramegna, L L; Pisano, A; Testa, C; Manners, David N; D'Angelo, R; Boschetti, E; Giancola, F; Pir...oni, L; Caporali, L; Capristo, M; Valentino, Maria Lucia; Plazzi, G; Casali, C; Dotti, M T; Cenacchi, G; Hirano, M; Giordano, C; Parchi, P; Rinaldi, R; De Giorgio, R; Lodi, R; Carelli, V; Tonon, C 2018-01-01 AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY - 1.01 Articolo in rivista -
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, B...artoletti-Stella A, Capellari S, Liguori R, Carelli V 2022-01-01 JOURNAL OF NEUROLOGY - 1.01 Articolo in rivista -
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III Tropeano, Concetta Valentina; Fiori, Jessica; Carelli, Valerio; Caporali, Leonardo; Daldal, Fevzi...; Ghelli, Anna Maria; Rugolo, Michela 2018-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - 1.01 Articolo in rivista -
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;D...e Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V 2013-01-01 BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - 1.01 Articolo in rivista -
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models Del Dotto, Valentina; Fogazza, Mario; Musiani, Francesco; Maresca, Alessandra; Aleo, Serena J.; C...aporali, Leonardo; La Morgia, Chiara; Nolli, Cecilia; Lodi, Tiziana; Goffrini, Paola; Chan, David; Carelli, Valerio; Rugolo, Michela; Baruffini, Enrico; Zanna, Claudia* 2018-01-01 BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - 1.01 Articolo in rivista 56_2018_DelDotto_BBAMolBasisDisease.pdf
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions Caporali, Leonardo; Bello, Luca; Tagliavini, Francesca; La Morgia, Chiara; Maresca, Alessandra; D...i Vito, Lidia; Liguori, Rocco; Valentino, Maria Lucia; Cecchin, Diego; Pegoraro, Elena; Carelli, Valerio 2018-01-01 BRAIN - 1.01 Articolo in rivista -