LAMPERTI, COSTANZA
LAMPERTI, COSTANZA
Universita' degli Studi di MILANO
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
2024 B. Berti, D. Verrigni, A. Nasca, M. Di Nottia, D. Leone, A. Torraco, T. Rizza, E. Bellacchio, A. Legati, C. Palermo, S. Marchet, C. Lamperti, A. Novelli, E. Maria Mercuri, E. Bertini, M. Pane, D. Ghezzi, R. Carrozzo
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
2024 B. Blickhäuser, S.L. Stenton, C.M. Neuhofer, E. Floride, V. Nesbitt, C. Fratter, J. Koch, B. Kauffmann, C. Catarino, L.D. Schlieben, R. Kopajtich, V. Carelli, A.A. Sadun, R. Mcfarland, F. Fang, C. La Morgia, S. Paquay, M.C. Nassogne, D. Ghezzi, C. Lamperti, S. Wortmann, J. Poulton, T. Klopstock, H. Prokisch
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
2024 D. Sala, S. Marchet, L. Nanetti, A. Legati, C. Mariotti, E. Lamantea, D. Ghezzi, A. Catania, C. Lamperti
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
2023 F. Invernizzi, R. Izzo, I. Colangelo, A. Legati, N. Zanetti, B. Garavaglia, E. Lamantea, L. Peverelli, A. Ardissone, I. Moroni, L. Maggi, S. Bonanno, L. Fiori, D. Velardo, F. Magri, G.P. Comi, D. Ronchi, D. Ghezzi, C. Lamperti
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients
2023 A. Ardissone, G. Ferrera, C. Lamperti, V. Tiranti, D. Ghezzi, I. Moroni, E. Lamantea
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
2022 R. Kaiyrzhanov, S.E.M. Mohammed, R. Maroofian, R.A. Husain, A. Catania, A. Torraco, A. Alahmad, M. Dutra-Clarke, S. Grønborg, A. Sudarsanam, J. Vogt, F. Arrigoni, J. Baptista, S. Haider, R.G. Feichtinger, P. Bernardi, A. Zulian, M. Gusic, S. Efthymiou, R. Bai, F. Bibi, A. Horga, J.A. Martinez-Agosto, A. Lam, A. Manole, D. Rodriguez, R. Durigon, A. Pyle, B. Albash, C. Dionisi-Vici, D. Murphy, D. Martinelli, E. Bugiardini, K. Allis, C. Lamperti, S. Reipert, L. Risom, L. Laugwitz, M. Di Nottia, R. Mcfarland, L. Vilarinho, M. Hanna, H. Prokisch, J.A. Mayr, E.S. Bertini, D. Ghezzi, E. Østergaard, S.B. Wortmann, R. Carrozzo, T.B. Haack, R.W. Taylor, A. Spinazzola, K. Nowikovsky, H. Houlden
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
2022 A. Nasca, A. Legati, M. Meneri, M.E. Ermert, C. Frascarelli, N. Zanetti, M. Garbellini, G.P. Comi, A. Catania, C. Lamperti, D. Ronchi, D. Ghezzi
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
2022 V. Montano, P. Lopriore, F. Gruosso, V. Carelli, G.P. Comi, M. Filosto, C. Lamperti, T. Mongini, O. Musumeci, S. Servidei, P. Tonin, A. Toscano, G. Primiano, M.L. Valentino, S. Bortolani, S. Marchet, G. Ricci, A. Modenese, S. Cotti Piccinelli, B. Risi, M. Meneri, I.G. Arena, G. Siciliano, M. Mancuso
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3
2021 F. Invernizzi, A. Legati, A. Nasca, E. Lamantea, B. Garavaglia, M. Gusic, R. Kopajtich, H. Prokisch, M. Zeviani, C. Lamperti, D. Ghezzi
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants
2021 L. Peverelli, A. Catania, S. Marchet, P. Ciasca, G. Cammarata, L. Melzi, A. Bellino, R. Fancellu, E. Lamantea, M. Capristo, L. Caporali, C. La Morgia, V. Carelli, D. Ghezzi, S. Bianchi Marzoli, C. Lamperti
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
2021 A. Ardissone, C. Bruno, D. Diodato, A. Donati, D. Ghezzi, E. Lamantea, C. Lamperti, M. Mancuso, D. Martinelli, G. Primiano, E. Procopio, A. Rubegni, F. Santorelli, M.C. Schiaffino, S. Servidei, F. Tubili, E. Bertini, I. Moroni
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
2021 Z.Y. Yap, S. Efthymiou, S. Seiffert, K. Vargas Parra, S. Lee, A. Nasca, R. Maroofian, I. Schrauwen, M. Pendziwiat, S. Jung, E. Bhoj, P. Striano, K. Mankad, B. Vona, S. Cuddapah, A. Wagner, J.R. Alvi, E. Davoudi-Dehaghani, M.-. Fallah, S. Gannavarapu, C. Lamperti, A. Legati, B.N. Murtaza, M.S. Nadeem, M.U. Rehman, K. Saeidi, V. Salpietro, S. von Spiczak, A. Sandoval, S. Zeinali, M. Zeviani, A. Reich, C. Jang, I. Helbig, T.S. Barakat, D. Ghezzi, S.M. Leal, Y. Weber, H. Houlden, W.H. Yoon
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
2021 S.L. Stenton, N.L. Sheremet, C.B. Catarino, N.A. Andreeva, Z. Assouline, P. Barboni, O. Barel, R. Berutti, I. Bychkov, L. Caporali, M. Capristo, M. Carbonelli, M.L. Cascavilla, P. Charbel Issa, P. Freisinger, S. Gerber, D. Ghezzi, E. Graf, J. Heidler, M. Hempel, E. Heon, Y.S. Itkis, E. Javasky, J. Kaplan, R. Kopajtich, C. Kornblum, R. Kovacs-Nagy, T.D. Krylova, W.S. Kunz, C. La Morgia, C. Lamperti, C. Ludwig, P.F. Malacarne, A. Maresca, J.A. Mayr, J. Meisterknecht, T.A. Nevinitsyna, F. Palombo, B. Pode-Shakked, M.S. Shmelkova, T.M. Strom, F. Tagliavini, M. Tzadok, A.T. van der Ven, C. Vignal-Clermont, M. Wagner, E.Y. Zakharova, N.V. Zhorzholadze, J. Rozet, V. Carelli, P.G. Tsygankova, T. Klopstock, I. Wittig, H. Prokisch
Current and new next-generation sequencing approaches to study mitochondrial DNA
2021 A. Legati, N. Zanetti, A. Nasca, C. Peron, C. Lamperti, E. Lamantea, D. Ghezzi
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
2020 S. Marchet, A. Legati, A. Nasca, I. Di Meo, M. Spagnolo, N. Zanetti, E. Lamantea, A. Catania, C. Lamperti, D. Ghezzi
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy
2020 V. Montano, F. Gruosso, V. Carelli, G.P. Comi, M. Filosto, C. Lamperti, T. Mongini, O. Musumeci, S. Servidei, P. Tonin, A. Toscano, A. Modenese, G. Primiano, M.L. Valentino, S. Bortolani, S. Marchet, M. Meneri, G. Tavilla, G. Siciliano, M. Mancuso
Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies
2020 E. Bottani, C. Lamperti, A. Prigione, V. Tiranti, N. Persico, D. Brunetti
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)
2019 A. Catania, L. Peverelli, S. Tabano, D. Ghezzi, C. Lamperti
New missense variants of NDUFA11 associated with late-onset myopathy
2019 L. Peverelli, A. Legati, E. Lamantea, A. Nasca, A. Lerario, V. Galimberti, D. Ghezzi, C. Lamperti
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy
2019 D. Verrigni, M.D. Nottia, A. Ardissone, E. Baruffini, A. Nasca, A. Legati, E. Bellacchio, G. Fagiolari, D. Martinelli, L. Fusco, D. Battaglia, G. Trani, G. Versienti, S. Marchet, A. Torraco, T. Rizza, M. Verardo, A. D'Amico, D. Diodato, I. Moroni, C. Lamperti, S. Petrini, M. Moggio, P. Goffrini, D. Ghezzi, R. Carrozzo, E. Bertini