CATANIA, ALESSIA
CATANIA, ALESSIA
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
2024 Sala, D; Marchet, S; Nanetti, L; Legati, A; Mariotti, C; Lamantea, E; Ghezzi, D; Catania, A; Lamperti, C
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
2024 Aleo, S; Del Dotto, V; Romagnoli, M; Fiorini, C; Capirossi, G; Peron, C; Maresca, A; Caporali, L; Capristo, M; Tropeano, C; Zanna, C; Ross-Cisneros, F; Sadun, A; Pignataro, M; Giordano, C; Fasano, C; Cavaliere, A; Porcelli, A; Tioli, G; Musiani, F; Catania, A; Lamperti, C; Marzoli, S; De Negri, A; Cascavilla, M; Battista, M; Barboni, P; Carbonelli, M; Amore, G; La Morgia, C; Smirnov, D; Vasilescu, C; Farzeen, A; Blickhaeuser, B; Prokisch, H; Priglinger, C; Livonius, B; Catarino, C; Klopstock, T; Tiranti, V; Carelli, V; Ghelli, A
Multifocal vitelliform lesions associated with mitochondrial retinopathy
2024 Battaglia Parodi, M; Antropoli, A; Bianco, L; Arrigo, A; Del Fabbro, S; Carrera, P; Spiga, I; Catania, A; Lamperti, C; Bandello, F; Mansour, A
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects
2023 Baglivo, M; Nasca, A; Lamantea, E; Vinci, S; Spagnolo, M; Marchet, S; Prokisch, H; Catania, A; Lamperti, C; Ghezzi, D
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years
2023 Panteghini, C; Reale, C; Colangelo, I; Suerz, M; Catania, A; Garavaglia, B; Invernizzi, F
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
2022 Kaiyrzhanov, R; Mohammed, S; Maroofian, R; Husain, R; Catania, A; Torraco, A; Alahmad, A; Dutra-Clarke, M; Gronborg, S; Sudarsanam, A; Vogt, J; Arrigoni, F; Baptista, J; Haider, S; Feichtinger, R; Bernardi, P; Zulian, A; Gusic, M; Efthymiou, S; Bai, R; Bibi, F; Horga, A; Martinez-Agosto, J; Lam, A; Manole, A; Rodriguez, D; Durigon, R; Pyle, A; Albash, B; Dionisi-Vici, C; Murphy, D; Martinelli, D; Bugiardini, E; Allis, K; Lamperti, C; Reipert, S; Risom, L; Laugwitz, L; Di Nottia, M; Mcfarland, R; Vilarinho, L; Hanna, M; Prokisch, H; Mayr, J; Bertini, E; Ghezzi, D; Ostergaard, E; Wortmann, S; Carrozzo, R; Haack, T; Taylor, R; Spinazzola, A; Nowikovsky, K; Houlden, H
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
2022 Nasca, A; Legati, A; Meneri, M; Ermert, M; Frascarelli, C; Zanetti, N; Garbellini, M; Comi, G; Catania, A; Lamperti, C; Ronchi, D; Ghezzi, D
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
2021 Peverelli, L; Catania, A; Marchet, S; Ciasca, P; Cammarata, G; Melzi, L; Bellino, A; Fancellu, R; Lamantea, E; Capristo, M; Caporali, L; La Morgia, C; Carelli, V; Ghezzi, D; Bianchi Marzoli, S; Lamperti, C
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy
2021 Pareyson, D; Pantaleoni, C; Eleopra, R; De Filippis, G; Moroni, I; Freri, E; Zibordi, F; Bulgheroni, S; Pagliano, E; Sarti, D; Silvani, A; Grazzi, L; Tiraboschi, P; Didato, G; Anghileri, E; Bersano, A; Valentini, L; Piacentini, S; Muscio, C; Leonardi, M; Mariotti, C; Eoli, M; Nuzzo, S; Tagliavini, F; Confalonieri, P; De Giorgi, F; Antozzi, C; Ardissone, A; Bersano, E; Boncoraglio, G; Bonvegna, S; Botturi, A; Brambilla, L; Canafoglia, L; Caputi, L; Caroppo, P; Carriero, M; Casali, C; Casazza, M; Catania, A; Ciaccio, C; Cilia, R; Dallabella, E; D'Amico, D; Danti, F; D'Arrigo, S; Decurtis, M; Deleo, F; Devigili, G; Difede, G; Digiacomo, R; Elia, A; Esposito, S; Estienne, M; Fenu, S; Fichera, M; Finocchiaro, G; Frangiamore, R; Gatti, M; Gaviani, P; Giaccone, G; Giani, L; Giovagnoli, A; Andreasi, N; Granata, T; Granocchio, E; Lamperti, C; Lamperti, E; Leone, M; Masson, R; Nanetti, L; Nardocci, N; Pastori, C; Pisciotta, C; Cecchini, A; Ragona, F; Redaelli, V; Saletti, V; Salsano, E; Scelzo, E; Solazzi, R; Tozzo, A; Usai, S; Zorzi, G; Arnoldi, M; Foscan, M; Marchi, A; Pedrinelli, I; Zanin, R; Gazzola, S; Magazu, S; Scopelliti, M; Casalino, T; Desalvatore, M; Mazzanti, S; Taddei, M; Fedeli, A; Sattin, D; Galimberti, L; Zagari, R; Bombonato, M; Fonte, L; Floridia, S
Role of pitrm1 in mitochondrial dysfunction and neurodegeneration
2021 Brunetti, D; Catania, A; Viscomi, C; Deleidi, M; Bindoff, L; Ghezzi, D; Zeviani, M
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes
2021 Vacchiano, V; Caporali, L; La Morgia, C; Carbonelli, M; Amore, G; Bartolomei, I; Cascavilla, M; Barboni, P; Lamperti, C; Catania, A; Chan, J; Karanja, R; Sadun, A; Liguori, R; Bianchi, A; Gavazzi, G; Mascalchi, M; Salvi, F; Carelli, V
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
2020 Marchet, S; Legati, A; Nasca, A; Di Meo, I; Spagnolo, M; Zanetti, N; Lamantea, E; Catania, A; Lamperti, C; Ghezzi, D
Characterization of disease genes and mechanisms causing neurodegenerative phenotypes
2019 Catania, A
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
2018 Catania, A; Ardissone, A; Verrigni, D; Legati, A; Reyes, A; Lamantea, E; Diodato, D; Tonduti, D; Imperatore, V; Pinto, A; Moroni, I; Bertini, E; Robinson, A; Carrozzo, R; Zeviani, M; Ghezzi, D
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome
2018 Catania, A; Battini, R; Pippucci, T; Pasquariello, R; Chiapparini, M; Seri, M; Garavaglia, B; Zorzi, G; Nardocci, N; Ghezzi, D; Tiranti, V