LAMANTEA, ELEONORA
LAMANTEA, ELEONORA
Universita' degli Studi di MILANO
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA
2025 M. Barresi, G. Dal Santo, R. Izzo, A. Zauli, E. Lamantea, L. Caporali, D. Ghezzi, A. Legati
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review
2025 M. Magistrati, L. Zupin, E. Lamantea, E. Baruffini, D. Ghezzi, A. Legati, F. Celsi, F.M. Murru, V. Capaci, M. Pinamonti, R. Bussani, M. Carrozzi, C. Dallabona, M. Zeviani, M.T. Bonati
PHEMI—Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open–Label Trial
2025 S. Marchet, A. Catania, A. Ardissone, V. Montano, K. Einvag, M.P. Iermito, D. Sala, M. Spagnolo, E. Mauro, E. Lamantea, G. Cecchi, P. Lopriore, M. Mancuso, C. Lamperti
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood
2024 G. Ferrera, R. Izzo, D. Ghezzi, L. Nanetti, E. Lamantea, A. Ardissone
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
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
2023 C. Frascarelli, N. Zanetti, A. Nasca, R. Izzo, C. Lamperti, E. Lamantea, A. Legati, D. Ghezzi
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
2023 A. Accogli, S. Lin, M. Severino, S. Kim, K. Huang, C. Rocca, M. Landsverk, M. Zaki, A. Al-Maawali, V.M. Srinivasan, K. Al-Thihli, G.B. Schaefer, M. Davis, D. Tonduti, C. Doneda, L.M. Marten, C. Mühlhausen, M. Gomez, E. Lamantea, R. Mena, M. Nizon, V. Procaccio, A. Begtrup, A. Telegrafi, H. Cui, H.L. Schulz, J. Mohr, S. Biskup, M.A. Loos, H.V. Aráoz, V. Salpietro, L.D. Keppen, M. Chitre, C. Petree, L. Raymond, J. Vogt, L.B. Swayer, A.A. Basinger, S.V. Pedersen, T.S. Pearson, D.K. Grange, L. Lingapp, P. Mcdunnah, R. Horvath, B. Cogne, B. Isidor, A. Hahn, K. Gripp, S.M. Jafarnejad, E. Ostergaard, C.E. Prada, D. Ghezzi, V.K. Gowda, R.W. Taylor, N. Sonenberg, H. Houlden, M. Sissler, G.K. Varshney, R. Maroofian
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
Expanding the Spectrum of NUBPL-Related Leukodystrophy
2023 D. Tonduti, A.A. Zambon, D. Ghezzi, E. Lamantea, R. Izzo, C. Parazzini, C. Baldoli, M.S. van der Knaap, F. Fumagalli
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects
2023 M. Baglivo, A. Nasca, E. Lamantea, S. Vinci, M. Spagnolo, S. Marchet, H. Prokisch, A. Catania, C. Lamperti, D. Ghezzi
Expanding the spectrum of neonatal-onset AIFM1-associated disorders
2023 A.A. Zambon, D. Ghezzi, C. Baldoli, G. Cutillo, K. Fontana, V. Sofia, M.G. Patricelli, A. Nasca, S. Vinci, I. Spiga, E. Lamantea, G.F. Fanelli, M.G.N. Sora, R. Rovelli, A. Poloniato, P. Carrera, M. Filippi, G. Barera
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
2021 C. Ciaccio, C. Pantaleoni, F. Taroni, D. Di Bella, S. Magri, E. Lamantea, D. Ghezzi, E. Maria Valente, V. Nigro, S. D'Arrigo
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
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
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
2021 A. Torraco, A. Nasca, D. Verrigni, A. Pennisi, M.S. Zaki, G. Olivieri, Z. Assouline, D. Martinelli, R. Maroofian, T. Rizza, M. Di Nottia, F. Invernizzi, E. Lamantea, D. Longo, H. Houlden, H. Prokisch, A. Rotig, C. Dionisi-Vici, E. Bertini, D. Ghezzi, R. Carrozzo, D. Diodato
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
2020 A. Alahmad, A. Nasca, J. Heidler, K. Thompson, M. Olahova, A. Legati, E. Lamantea, J. Meisterknecht, M. Spagnolo, L. He, S. Alameer, F. Hakami, A. Almehdar, A. Ardissone, C.L. Alston, R. Mcfarland, I. Wittig, D. Ghezzi, R.W. Taylor
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