CARELLI, VALERIO
CARELLI, VALERIO
DIBINEM - DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Docenti di ruolo di Ia fascia
Carelli V; Valerio Carelli; V CARELLI
A Case of Late-Onset Leber’s Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation
2025 Portaro, Giacomo; Cavallieri, Francesco; Amore, Giulia; Carbonelli, Michele; Pelloni, Simone; Cavallieri, Giuseppe; Carelli, Valerio; Valzania, Franco; Morgia, Chiara La
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
Late-onset Leber’s hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?
2025 Amore, G.; Carbonelli, M.; D'Angeli, D.; Bonan, L.; Faustini-Fustini, M.; Maresca, A.; Carelli, V.; La Morgia, C.
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant
2025 Avenali, Micol; Artusi, Carlo Alberto; Cilia, Roberto; Giannini, Giulia; Cuconato, Giada; Albanese, Alberto; Golfrè Andreasi, Nico; Antenucci, Pietro; Antonini, Angelo; Avanzino, Laura; Baldelli, Luca; Bentivoglio, Anna Rita; Bove, Francesco; Bozzali, Marco; Calandra-Buonaura, Giovanna; Cani, Ilaria; Carelli, Valerio; Cavallieri, Francesco; Cocco, Antoniangela; Cogiamanian, Filippo; Colucci, Fabiana; Cortelli, Pietro; De Biase, Alesssandro; Di Biasio, Francesca; Di Fonzo, Alessio; D'Onofrio, Valentina; Eleopra, Roberto; Elia, Antonio Emanuele; Fioravanti, Valentina; Genovese, Danilo; Guerra, Andrea; Imarisio, Alberto; Ledda, Claudia; Liccari, Marco; Longo, Chiara; Lopiano, Leonardo; Malaguti, Maria Chiara; Malito, Rachele; Mameli, Francesca; Marino, Silvia; Minardi, Raffaella; Mitrotti, Pierfrancesco; Monfrini, Edoardo; Pacchetti, Claudio; Piano, Carla; Rispoli, Vittorio; Rizzone, Mario Giorgio; Romito, Luigi Michele; Sambati, Luisa; Sensi, Mariachiara; Sorbera, Chiara; Spagnolo, Francesca; Tassorelli, Cristina; Valentino, Francesca; Valzania, Franco; Zangaglia, Roberta; Zibetti, Maurizio; Null, Null; Valente, Enza Maria; Leta, Valentina; Piacentini, Sylvie; Palmieri, Ilaria; Picascia, Marta; Lalli, Stefania; Polverino, Paola; Mandich, Paola; Marchese, Roberta; Di Lorenzo, Giuseppe; Brigandi, Amelia; Di Lazzaro, Giulia; Petracca, Martina; Trezzi, Ilaria; Frattini, Emanuele; Fiorentino, Alessia; Guaraldi, Pietro
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients
2025 Coutinho, C. P.; Zanchetta, F.; Carbonelli, M.; Battista, M.; Galzignato, A.; La Morgia, C.; Amore, G.; Romagnoli, M.; Savini, G.; Brotto, L.; Nucci, P.; Caporali, L.; Bandello, F.; Carelli, V.; Cascavilla, M. L.; Fioresi, R.; Barboni, P.
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
Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With SOD1-Linked Amyotrophic Lateral Sclerosis
2025 Vacchiano, V.; Ragucci, C.; Rizzo, G.; Di Stasi, V.; Pastorelli, F.; Rinaldi, R.; Provini, F.; Postiglione, E.; Fiorentino, A.; Carelli, V.; Liguori, R.
The origin of modern North Africans as depicted by a massive survey of mitogenomes
2025 Colombo, G.; Moroni, E.; Raveane, A.; Rambaldi Migliore, N.; Agostini, V.; Di Gerlando, R.; Fiorini, C.; Caporali, L.; Gandini, F.; Raimondi, E.; D'Atanasio, E.; Lancioni, H.; Carelli, V.; Pala, M.; Trombetta, B.; Novelletto, A.; Dugoujon, J. -M.; Achilli, A.; Torroni, A.; Richards, M. B.; Cruciani, F.; Semino, O.; Olivieri, A.
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, Valérie; Najjar, Raymond P.; Tang, Zhiqun; Lin, Mung Yan; Wright, David W.; Keadey, Matthew T.; Wong, Tien Y.; Bruce, Beau B.; Milea, Dan; Newman, Nancy J.; Fraser, Clare L.; Micieli, Jonathan A.; Costello, Fiona; Bénard-Séguin, Étienne; Yang, Hui; Chan, Carmen Kar Mun; Cheung, Carol Y; Chan, Noel Cy; Hamann, Steffen; Gohier, Philippe; Vautier, Anaïs; Rougier, Marie-Bénédicte; Chiquet, Christophe; Vignal-Clermont, Catherine; Hage, Rabih; Khanna, Raoul Kanav; Tran, Thi Ha Chau; Lagrèze, Wolf Alexander; Jonas, Jost B; Ambika, Selvakumar; Fard, Masoud Aghsaei; La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Carelli, Valerio; Romagnoli, Martina; Amore, Giulia; Nakamura, Makoto; Fumio, Takano; Petzold, Axel; Wenniger Lj, Maillette De Buy; Kho, Richard; Fonseca, Pedro L.; Bikbov, Mukharram M.; Milea, Dan; Najjar, Raymond P; Ting, Daniel; Tang, Zhiqun; Loo, Jing Liang; Tow, Sharon; Singhal, Shweta; Vasseneix, Caroline; Wong, Tien Yin; Lamoureux, Ecosse; Yu Chen, Ching; Aung, Tin; Schmetterer, Leopold; Sanda, Nicolae; Thuman, Gabriele; Hwang, Jeong-Min; Vanikieti, Kavin; Suwan, Yanin; Padungkiatsagul, Tanyatuth; Yu-Wai-Man, Patrick; Jurkute, Neringa; Hong, Eun Hee; Biousse, Valerie; Newman, Nancy J.; Peragallo, Jason H.; Datillo, Michael; Kedar, Sachin; Lin, Mung Yan; Patil, Ajay; Aung, Andre; Boyko, Matthew; Alsakran, Wael Abdulraman; Zayani, Amani; Bouthour, Walid; Banc, Ana; Mosley, Rasha; Labella, Fernando; Miller, Neil R.; Chen, John J.; Mejico, Luis J.; Kilangalanga, Janvier Ngoy
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.
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
2024 Campbell, Teresa; Slone, Jesse; Metzger, Hallie; Liu, Wensheng; Sacharow, Stephanie; Yang, Amy; Moosajee, Mariya; La Morgia, Chiara; Carelli, Valerio; Palombo, Flavia; Lines, Matthew A.; Innes, A. Micheil; Levy, Rebecca J.; Neilson, Derek; Longo, Nicola; Huang, Taosheng
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| A Case of Late-Onset Leber’s Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation | Portaro, Giacomo; Cavallieri, Francesco; Amore, Giulia; Carbonelli, Michele; Pelloni, Simone; Cav...allieri, Giuseppe; Carelli, Valerio; Valzania, Franco; Morgia, Chiara La | 2025-01-01 | NEURO-OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene | 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. | 2025-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | ijms-26-01116-v2.pdf; ijms-26-01116-s001.zip |
| Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy | Yu-Wai-Man, Patrick; Newman, Nancy J.; Biousse, Valérie; Carelli, Valerio; Moster, Mark L.; Vigna...l-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 | 2025-01-01 | JAMA OPHTHALMOLOGY | - | 1.01 Articolo in rivista | jamaophthalmology_yuwaiman_2024_oi_240080_1739913511.04053.pdf; file supplementari.zip |
| Late-onset Leber’s hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link? | Amore, G.; Carbonelli, M.; D'Angeli, D.; Bonan, L.; Faustini-Fustini, M.; Maresca, A.; Carelli, V....; La Morgia, C. | 2025-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | fneur-16-1616992.pdf |
| Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant | Avenali, Micol; Artusi, Carlo Alberto; Cilia, Roberto; Giannini, Giulia; Cuconato, Giada; Albanes...e, Alberto; Golfrè Andreasi, Nico; Antenucci, Pietro; Antonini, Angelo; Avanzino, Laura; Baldelli, Luca; Bentivoglio, Anna Rita; Bove, Francesco; Bozzali, Marco; Calandra-Buonaura, Giovanna; Cani, Ilaria; Carelli, Valerio; Cavallieri, Francesco; Cocco, Antoniangela; Cogiamanian, Filippo; Colucci, Fabiana; Cortelli, Pietro; De Biase, Alesssandro; Di Biasio, Francesca; Di Fonzo, Alessio; D'Onofrio, Valentina; Eleopra, Roberto; Elia, Antonio Emanuele; Fioravanti, Valentina; Genovese, Danilo; Guerra, Andrea; Imarisio, Alberto; Ledda, Claudia; Liccari, Marco; Longo, Chiara; Lopiano, Leonardo; Malaguti, Maria Chiara; Malito, Rachele; Mameli, Francesca; Marino, Silvia; Minardi, Raffaella; Mitrotti, Pierfrancesco; Monfrini, Edoardo; Pacchetti, Claudio; Piano, Carla; Rispoli, Vittorio; Rizzone, Mario Giorgio; Romito, Luigi Michele; Sambati, Luisa; Sensi, Mariachiara; Sorbera, Chiara; Spagnolo, Francesca; Tassorelli, Cristina; Valentino, Francesca; Valzania, Franco; Zangaglia, Roberta; Zibetti, Maurizio; Null, Null; Valente, Enza Maria; Leta, Valentina; Piacentini, Sylvie; Palmieri, Ilaria; Picascia, Marta; Lalli, Stefania; Polverino, Paola; Mandich, Paola; Marchese, Roberta; Di Lorenzo, Giuseppe; Brigandi, Amelia; Di Lazzaro, Giulia; Petracca, Martina; Trezzi, Ilaria; Frattini, Emanuele; Fiorentino, Alessia; Guaraldi, Pietro | 2025-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | avenali-et-al-2025-long-term-motor-and-cognitive-outcome-of-deep-brain-stimulation-in-patients-with-parkinson-disease.pdf; file supplementari (2).zip |
| Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients | Coutinho, C. P.; Zanchetta, F.; Carbonelli, M.; Battista, M.; Galzignato, A.; La Morgia, C.; Amor...e, G.; Romagnoli, M.; Savini, G.; Brotto, L.; Nucci, P.; Caporali, L.; Bandello, F.; Carelli, V.; Cascavilla, M. L.; Fioresi, R.; Barboni, P. | 2025-01-01 | TRANSLATIONAL VISION SCIENCE & TECHNOLOGY | - | 1.01 Articolo in rivista | i2164-2591-14-6-20_1749552676.2211.pdf |
| Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy | Newman, N. J.; Biousse, V.; Yu-Wai-Man, P.; Carelli, V.; Vignal-Clermont, C.; Montestruc, F.; Tai...el, M.; Sahel, J. -A. | 2025-01-01 | SURVEY OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | 1-s2.0-S0039625724001309-main.pdf |
| Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder | Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletch...er, 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 | 2025-01-01 | BRAIN | - | 1.01 Articolo in rivista | awae320.pdf; awae320_supplementary_data.zip |
| Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 | Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrin...i, 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 | 2025-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | neurology.pdf |
| Nerve Root Enhancement and Elevated Cerebrospinal Fluid Protein in Four Patients With SOD1-Linked Amyotrophic Lateral Sclerosis | Vacchiano, V.; Ragucci, C.; Rizzo, G.; Di Stasi, V.; Pastorelli, F.; Rinaldi, R.; Provini, F.; Po...stiglione, E.; Fiorentino, A.; Carelli, V.; Liguori, R. | 2025-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| The origin of modern North Africans as depicted by a massive survey of mitogenomes | Colombo, G.; Moroni, E.; Raveane, A.; Rambaldi Migliore, N.; Agostini, V.; Di Gerlando, R.; Fiori...ni, C.; Caporali, L.; Gandini, F.; Raimondi, E.; D'Atanasio, E.; Lancioni, H.; Carelli, V.; Pala, M.; Trombetta, B.; Novelletto, A.; Dugoujon, J. -M.; Achilli, A.; Torroni, A.; Richards, M. B.; Cruciani, F.; Semino, O.; Olivieri, A. | 2025-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | s41598-025-12209-x.pdf; 41598_2025_12209_MOESM1_ESM.zip |
| A computational study to assess the pathogenicity of single or combinations of missense variants on respiratory complex I | Rigobello L.; Lugli F.; Caporali L.; Bartocci A.; Fadanni J.; Zerbetto F.; Iommarini L.; Carelli ...V.; Ghelli A.M.; Musiani F. | 2024-01-01 | INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES | - | 1.01 Articolo in rivista | 92_2024_Rigobello_IntJBiolMacromol_compressed (1).pdf; 1-s2.0-S0141813024038911-mmc1.pdf |
| A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs | Sathianvichitr, K.; Najjar, R. P.; Zhiqun, T.; Fraser, J. A.; Yau, C. W. L.; Girard, M. J. A.; Co...stello, 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. | 2024-01-01 | JOURNAL OF NEURO-OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients | Amore, Giulia; Romagnoli, Martina; Carbonelli, Michele; Cascavilla, Maria Lucia; De Negri, Anna M...aria; 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 | 2024-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | Amore_2024.pdf |
| Application of a Deep Learning System to Detect Papilledema on Nonmydriatic Ocular Fundus Photographs in an Emergency Department | Biousse, Valérie; Najjar, Raymond P.; Tang, Zhiqun; Lin, Mung Yan; Wright, David W.; Keadey, Matt...hew T.; Wong, Tien Y.; Bruce, Beau B.; Milea, Dan; Newman, Nancy J.; Fraser, Clare L.; Micieli, Jonathan A.; Costello, Fiona; Bénard-Séguin, Étienne; Yang, Hui; Chan, Carmen Kar Mun; Cheung, Carol Y; Chan, Noel Cy; Hamann, Steffen; Gohier, Philippe; Vautier, Anaïs; Rougier, Marie-Bénédicte; Chiquet, Christophe; Vignal-Clermont, Catherine; Hage, Rabih; Khanna, Raoul Kanav; Tran, Thi Ha Chau; Lagrèze, Wolf Alexander; Jonas, Jost B; Ambika, Selvakumar; Fard, Masoud Aghsaei; La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Carelli, Valerio; Romagnoli, Martina; Amore, Giulia; Nakamura, Makoto; Fumio, Takano; Petzold, Axel; Wenniger Lj, Maillette De Buy; Kho, Richard; Fonseca, Pedro L.; Bikbov, Mukharram M.; Milea, Dan; Najjar, Raymond P; Ting, Daniel; Tang, Zhiqun; Loo, Jing Liang; Tow, Sharon; Singhal, Shweta; Vasseneix, Caroline; Wong, Tien Yin; Lamoureux, Ecosse; Yu Chen, Ching; Aung, Tin; Schmetterer, Leopold; Sanda, Nicolae; Thuman, Gabriele; Hwang, Jeong-Min; Vanikieti, Kavin; Suwan, Yanin; Padungkiatsagul, Tanyatuth; Yu-Wai-Man, Patrick; Jurkute, Neringa; Hong, Eun Hee; Biousse, Valerie; Newman, Nancy J.; Peragallo, Jason H.; Datillo, Michael; Kedar, Sachin; Lin, Mung Yan; Patil, Ajay; Aung, Andre; Boyko, Matthew; Alsakran, Wael Abdulraman; Zayani, Amani; Bouthour, Walid; Banc, Ana; Mosley, Rasha; Labella, Fernando; Miller, Neil R.; Chen, John J.; Mejico, Luis J.; Kilangalanga, Janvier Ngoy | 2024-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy | Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulić N.; Fasano G.; Kopajtich R.; Corde...ddu 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. | 2024-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | ScienceDirect_files_07Nov2024_15-01-25.977.zip; Brugger_AJHG_2024.pdf |
| Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep | Licchetta L.; Di Giorgi L.; Santucci M.; Taruffi L.; Stipa C.; Minardi R.; Carelli V.; Bisulli F. | 2024-01-01 | MOLECULAR GENETICS & GENOMIC MEDICINE | - | 1.01 Articolo in rivista | Molec Gen Gen Med - 2023 - Licchetta - Biallelic pathogenic variants of PARS2 cause developmental and epileptic.pdf |
| Biochemical and computational approaches to dissect the effect of MT-CYB pathogenic mutations on respiratory chain activity and assembly | Tioli, G; Musiani, F; Iommarini, L; Porcelli, Am; Carelli, V; Ghelli, Am | 2024-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | - | 1.06 Abstract in rivista | - |
| Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population | 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. | 2024-01-01 | GENETICS IN MEDICINE OPEN | - | 1.01 Articolo in rivista | Clinical study of ferredoxin.pdf; 1-s2.0-S2949774423008506-mmc1.pdf |
| Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population | Campbell, Teresa; Slone, Jesse; Metzger, Hallie; Liu, Wensheng; Sacharow, Stephanie; Yang, Amy; M...oosajee, Mariya; La Morgia, Chiara; Carelli, Valerio; Palombo, Flavia; Lines, Matthew A.; Innes, A. Micheil; Levy, Rebecca J.; Neilson, Derek; Longo, Nicola; Huang, Taosheng | 2024-01-01 | GENETICS IN MEDICINE OPEN | - | 1.01 Articolo in rivista | - |