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M

Maria Lucia Cascavilla

vita-salute san raffaele university
H指数:23
被引数:1,631

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Exploratory and comprehensive description of an italian cohort of patients affected by leber hereditary optic neuropathy carrying the pathogenic variants m.11778G > A/MTND4 and m.3460G > A/MT-ND1

对受累于携带致病性变异 m.11778G > A/MTND4 和 m.3460G > A/MT-ND1 的利伯遗传性视神经病变的意大利队列患者进行探索性和全面性描述。

ACTA OPHTHALMOLOGICA
IF2.8
2025-01-190
PRE
Romagnoli, M; Carbonelli, M; Amore, G; Fiorini, C; Zenesini, C; D'Agati, P; Tropeano, CV; Cascavilla, ML; Barboni, P
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

ACTA OPHTHALMOLOGICA
IF2.8
2025-01-190
PRE
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
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients
AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2024-06-010
PRE
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
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
CELL REPORTS MEDICINE
IF10.6
2024-02-018
OAAI
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
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights
AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2023-05-0112
OAAI
Barboni, Piero; La Morgia, Chiara; Cascavilla, Maria Lucia; Hong, Eun Hee; Battista, Marco; Majander, Anna; Caporali, Leonardo; Starace, Vincenzo; Amore, Giulia; Di Renzo, Antonio; Carbonelli, Michele; Nucci, Paolo; Jurkute, Neringa; Chen, Benson S.; Panebianco, Roberta; De Negri, Anna Maria; Sadun, Federico; Parisi, Vincenzo; Bandello, Francesco; Sadun, Alfredo A.; Carelli, Valerio; Yu-wai-man, Patrick
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
BRAIN
IF11.7
2023-03-133
OAAI
Fiorini, Claudio; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Amore, Giulia; Romagnoli, Martina; d'Agati, Pietro; Valentino, Maria Lucia; Barboni, Piero; Cascavilla, Maria Lucia; De Negri, Annamaria; Sadun, Federico; Carta, Arturo; Testa, Francesco; Petruzzella, Vittoria; Guerriero, Silvana; Bianchi Marzoli, Stefania; Carelli, Valerio; La Morgia, Chiara; Caporali, Leonardo

研究方向

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P
Piero Barboni
H 指数:60论文数:314被引数:1.1万
F
Francesco Bandello
H 指数:73论文数:1,597被引数:3.2万
C
Chiara La Morgia
H 指数:56论文数:280被引数:9,602
V
Valério Carelli
H 指数:94论文数:735被引数:2.7万
M
Marco Battista
H 指数:21论文数:97被引数:1,225
M
Michele Carbonelli
H 指数:42论文数:121被引数:5,210
G
Giulia Amore
H 指数:17论文数:64被引数:945
L
Leonardo Caporali
H 指数:30论文数:134被引数:4,265
E
Enrico Borrelli
H 指数:44论文数:370被引数:7,304
V
Vincenzo Parisi
H 指数:53论文数:280被引数:8,802