CARELLI, VALERIO
CARELLI, VALERIO
DIBINEM - DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Docenti di ruolo di Ia fascia
Carelli V; Valerio Carelli; V CARELLI
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene
2025 Tropeano, C. V.; La Morgia, C.; Achilli, A.; Iommarini, L.; Tioli, G.; Caporali, L.; Olivieri, A.; Valentino, M. L.; Liguori, R.; Barboni, P.; Martinuzzi, A.; Tonon, C.; Lodi, R.; Torroni, A.; Carelli, V.; Ghelli, A. M.
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
2025 Yu-Wai-Man, Patrick; Newman, Nancy J.; Biousse, Valérie; Carelli, Valerio; Moster, Mark L.; Vignal-Clermont, Catherine; Klopstock, Thomas; Sadun, Alfredo A.; Sergott, Robert C.; Hage, Rabih; Degli Esposti, Simona; La Morgia, Chiara; Priglinger, Claudia; Karanja, Rustum; Taiel, Magali; Sahel, José-Alain; Null, Null; Barboni, Piero; Carbonelli, Michele; Di Vito, Lidia; Amore, Giulia; Contin, Manuela; Mohamed, Susan; Silvestri, Sara; Baker Hubbard, George; Hendrick, Andrew M.; Dattilo, Michael; Peragallo, Jason H.; Hawy, Eman; Dubois, Lindreth; Gibbs, Deborah; Fernandes Filho, Alcides; Dobbs, Jannah; Aung, Andre; Acheson, James; Boston, Hayley; Eleftheriadou, Maria; Gemenetzi, Maria; Leitch-Devlin, Lauren; Tucker, William R.; Jurkute, Neringa; Burale, Asma; Debusk, Adam A.; Haller, Julia A.; Massini, Maria; Santamaria, Melissa; Tollis, Heather; Girmens, Jean-François; Plaine, Lise; Khemliche, Wahiba; Catarino, Claudia B.; Priglinger, Siegfried; Rudolph, Günther; Thurau, Stephan; von Livonius, Bettina; Muth, Daniel; Wolf, Armin; Al-Tamami, Jasmina; Pressler, Angelika; Schertler, Cosima; Hildebrandt, Martin; Neuenhahn, Michael; Heilweil, Gad; Tsui, Irena
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy
2025 Newman, N. J.; Biousse, V.; Yu-Wai-Man, P.; Carelli, V.; Vignal-Clermont, C.; Montestruc, F.; Taiel, M.; Sahel, J. -A.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
2025 Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran Mau Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
2025 Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina
A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I
2024 Rigobello L.; Lugli F.; Caporali L.; Bartocci A.; Fadanni J.; Zerbetto F.; Iommarini L.; Carelli V.; Ghelli A.M.; Musiani F.
A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs
2024 Sathianvichitr, K.; Najjar, R. P.; Zhiqun, T.; Fraser, J. A.; Yau, C. W. L.; Girard, M. J. A.; Costello, F.; Lin, M. Y.; Lagreze, W. A.; Vignal-Clermont, C.; Fraser, C. L.; Hamann, S.; Newman, N. J.; Biousse, V.; Milea, D.; Petzold, A.; Gohier, P.; Miller, N. R.; Vanikieti, K.; Milea, L.; Carelli, V.; Barboni, P.; La Morgia, C.; Rougier, M. -B.; Benard-Seguin, E.; Ambika, S.; Fonseca, P. L.; Wibroe, E. A.; Kuchlin, S.; Sanda, N.; Chiquet, C.; Yang, H.; Chan, C. K. M.; Cheung, C. Y.; Kilangalanga, J. N.; Nakamura, M.; Fumio, T.; Jurkute, N.; Yu-Wai-Man, P.; Kho, R.; Jonas, J.; Dinkin, M. J.; Chen, J. J.; Sadun, R.; Hwang, J. -M.; Kim, D. H.; Yang, H. K.; Loo, J. L.; Schmetterer, L.; Lamoureux, E.; Aung, T.; Ting, D.; Wong, T. Y.; Ming Foo, R. C.; Singhal, S.; Lee Choon Tow, S.; Vasseneix, C.; Mejico, L. J.; Fard, M. A.; Micieli, J. A.; Bikbov, M. M.
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients
2024 Amore, Giulia; Romagnoli, Martina; Carbonelli, Michele; Cascavilla, Maria Lucia; De Negri, Anna Maria; Carta, Arturo; Parisi, Vincenzo; Di Renzo, Antonio; Schiavi, Costantino; Lenzetti, Chiara; Zenesini, Corrado; Ormanbekova, Danara; Palombo, Flavia; Fiorini, Claudio; Caporali, Leonardo; Carelli, Valerio; Barboni, Piero; La Morgia, Chiara
Application of a deep learning system to detect papilledema on nonmydriatic ocular fundus photographs in an emergency department
2024 Biousse, V; Najjar, Rp; Tang, Z; Lin, My; Wright, Dw; Keadey, Mt; Wong, Ty; Bruce, Bb; Milea, D; Newman, Nj; BONSAI Study, Group; La Morgia, C; Carelli, V
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
2024 Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulić N.; Fasano G.; Kopajtich R.; Cordeddu V.; Radio F.C.; Mancini C.; Pizzi S.; Paradisi G.; Zanni G.; Vasco G.; Carrozzo R.; Palombo F.; Tonon C.; Lodi R.; La Morgia C.; Arelin M.; Blechschmidt C.; Finck T.; Sørensen V.; Kreiser K.; Strobl-Wildemann G.; Daum H.; Michaelson-Cohen R.; Ziccardi L.; Zampino G.; Prokisch H.; Abou Jamra R.; Fiorini C.; Arzberger T.; Winkelmann J.; Caporali L.; Carelli V.; Stenmark H.; Tartaglia M.; Wagner M.
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
2024 Licchetta L.; Di Giorgi L.; Santucci M.; Taruffi L.; Stipa C.; Minardi R.; Carelli V.; Bisulli F.
Biochemical and computational approaches to dissect the effect of MT-CYB pathogenic mutations on respiratory chain activity and assembly
2024 Tioli, G; Musiani, F; Iommarini, L; Porcelli, Am; Carelli, V; Ghelli, Am
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
2024 Campbell, T.; Slone, J.; Metzger, H.; Liu, W.; Sacharow, S.; Yang, A.; Moosajee, M.; La Morgia, C.; Carelli, V.; Palombo, F.; Lines, M. A.; Innes, A. M.; Levy, R. J.; Neilson, D.; Longo, N.; Huang, T.
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations
2024 Giannoccaro, M. P.; Morelli, L.; Ricciardiello, F.; Donadio, V.; Bartiromo, F.; Tonon, C.; Carbonelli, M.; Amore, G.; Carelli, V.; Liguori, R.; La Morgia, C.
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
2024 Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Grippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina
Deep Learning to Discriminate Arteritic from Nonarteritic Ischemic Optic Neuropathy on Color Images
2024 Gungor, A.; Najjar, R. P.; Hamann, S.; Tang, Z.; Lagreze, W. A.; Sadun, R.; Sathianvichitr, K.; Dinkin, M. J.; Oliveira, C.; Li, A.; Sadun, F.; Carey, A. R.; Bouthour, W.; Lin, M. Y.; Loo, J. -L.; Miller, N. R.; Newman, N. J.; Biousse, V.; Milea, D; Bonsai, Group; Carelli, V
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024 Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.; Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
2024 Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; Mcfarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice
2024 Innella, Giovanni; Coccia, Emanuele; Cristalli, Carlotta Pia; Zacchi, Eliana; Calabrese, Sara; Bacchi, Isabelle; Palombo, Flavia; Taormina, Sara; Evangelisti, Cecilia; Lanzoni, Giulia; Carelli, Valerio; Diquigiovanni, Chiara; Ferrari, Simona; Panza, Emanuele; Rossi, Cesare; Vaisfeld, Alessandro; Bonora, Elena; Turchetti, Daniela
Gene therapy for Leber hereditary optic neuropathy
2024 Battista, M.; Carelli, V.; Bottazzi, L.; Bandello, F.; Cascavilla, M. L.; Barboni, P.