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Efficacy and safety of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy in the real-life setting lenadogene nolparvovec基因疗法在真实世界环境中的有效性与安全性，针对莱伯遗传性视神经病变。 Yu-Wai-Man, P; Vignal-Clermont, C; Carelli, V; La Morgia, C; Moster, M; Sergott, R; Donahue, S; Dollfus, H; Klopstock, T; Priglinger, C; Hage, R; Smirnov, V; Cochard, C; Rougier, MB; Tournaire-Marques, E; Lebranchu, P; Froment, C; Pollet-Villard, F; Laville, MA; Prospero-Ponce, C; Walter, SD; Munier, F; Zoppe, P; Taiel, M; Sahel, JA 分享 收藏
Archetypal analysis for visual field loss characterization of leber hereditary optic neuropathy 原型分析用于Leber遗传性视神经病变的视野缺损特征描述 Coutinho, C; Zanchetta, F; Carbonelli, M; Galzignato, A; Battista, M; Fantaguzzi, F; Amore, G; Carelli, V; Brotto, L; Nucci, P; Checchin, L; Savini, G; Bandello, F; La Morgia, C; Cascavilla, ML; Fioresi, R; Barboni, P 分享 收藏
Exploratory and comprehensive description of an Italian cohort of patients affected by leber hereditary optic neuropathy carrying the pathogenic variants m.11778G > A/MT-ND4 and m.3460G > A/MT-ND1 对受累于携带致病性变异m.11778G > A/MT-ND4和m.3460G > A/MT-ND1的Leber遗传性视神经病变的意大利队列患者的探索性及全面性描述 Romagnoli, M; Carbonelli, M; Amore, G; Fiorini, C; Zenesini, C; D'Agati, P; Tropeano, CV; Cascavilla, ML; Barboni, P; Caporali, L; Carelli, V; La Morgia, C 分享 收藏
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Automated OCT-angiography segmentation of the optic nerve head to distinguish optic disc edema and pseudo-edema 自动化OCT-angiography视神经盘分割以区分视盘水肿和假性水肿 Battista, M; Oakley, J; Carbonelli, M; Coutinho, C; Galzignato, A; Brotto, L; Amore, G; Mularoni, C; Bosello, F; Erba, S; Nucci, P; Lenzetti, C; Gagliano, C; Capobianco, M; Dell'Arti, L; Carelli, V; Bandello, F; La Morgia, C; Cascavilla, ML; Barboni, P 分享 收藏
Genetic variants of NQO1 affect the expression and activity of the protein, which determines the efficacy of idebenone treatment in Leber's hereditary optic neuropathy Del Dotto, Valentina; Aleo, Serena J.; Romagnoli, Martina; Fiorini, Claudio; Capirossi, Giada; Peron, Camille; Fasano, Chiara; Maresca, Alessandra; Caporali, Leonardo; Capristo, Mariantonietta; Tropeano, Concetta V.; Zanna, Claudia; Porcelli, Anna M.; Tioli, Gaia; Amore, Giulia; La Morgia, Chiara; Tiranti, Valeria; Carelli, Valerio; Ghelli, Anna 分享 收藏
Modelling MERRF in 3D cortical organoids: manipulating patientderived iPSCs to gain insight on prospective pre-clinical therapeutic strategies Capirossi, Giada; Capristo, Mariantonietta; Sacchetti, Giulia; Del Dotto, Valentina; Fiorini, Claudio; Caporali, Leonardo; La Morgia, Chiara; Pisano, Annalinda; Giordano, Carla; D'Amati, Giulia; Le, Stephanie; Prigione, Alessandro; Carelli, Valerio; Maresca, Alessandra 分享 收藏
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 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 分享 收藏
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Deoxyguanosine kinase deficiency: natural history and liver transplant outcome Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina 分享 收藏
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant 以m.11778G为背景的Digenic Leigh综合征> Leber遗传性视神经病变变体 Blickhaeuser, 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, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger 分享 收藏
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial Yu-Wai-Man, Patrick; Carelli, Valerio; Newman, Nancy J.; Silva, Magda Joana; Linden, Aki; Van Stavern, Gregory; Szaflik, Jacek P.; Banik, Rudrani; Lubinski, Wojciech; Pemp, Berthold; Liao, Yaping Joyce; Subramanian, Prem S.; Misiuk-Hojlo, Marta; Newman, Steven; Castillo, Lorena; Kociecki, Jaroslaw; Levin, Marc H.; Munoz-Negrete, Francisco Jose; Yagan, Ali; Cherninkova, Sylvia; Katz, David; Meunier, Audrey; Votruba, Marcela; Korwin, Magdalena; Dziedziak, Jacek; Jurkute, Neringa; Harvey, Joshua P.; La Morgia, Chiara; Priglinger, Claudia; Lloria, Xavier; Tomasso, Livia; Klopstock, Thomas 分享 收藏
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy SNF8中的双等位基因变体引起的疾病谱从严重的发育性和癫痫性脑病到综合征性视神经萎缩 Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias 分享 收藏
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy Aleo, Serena Jasmine; Dotto, Valentina Del; Romagnoli, Martina; Fiorini, Claudio; Capirossi, Giada; Peron, Camille; Maresca, Alessandra; Caporali, Leonardo; Capristo, Mariantonietta; Tropeano, Concetta Valentina; Zanna, Claudia; Ross-Cisneros, Fred N.; Sadun, Alfredo A.; Pignataro, Maria Gemma; Giordano, Carla; Fasano, Chiara; Cavaliere, Andrea; Porcelli, Anna Maria; Tioli, Gaia; Musiani, Francesco; Catania, Alessia; Lamperti, Costanza; Marzoli, Stefania Bianchi; Negri, Annamaria De; Cascavilla, Maria Lucia; Battista, Marco; Barboni, Piero; Carbonelli, Michele; Amore, Giulia; Morgia, Chiara La; Smirnov, Dmitrii; Vasilescu, Catalina; Farzeen, Aiman; Blickhaeuser, Beryll; Prokisch, Holger; Priglinger, Claudia; Livonius, Bettina; Catarino, Claudia B.; Klopstock, Thomas; Tiranti, Valeria; Carelli, Valerio; Maria, Anna 分享 收藏
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