Research output per year
Research output per year
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Dive into the research topics where Mariantonietta Capristo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy
Palombo, F., Piccolo, B., Saccani, E., Fiorini, C., Capristo, M., Caporali, L., Pisani, F. & Carelli, V., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1918-1921 4 p.Research output: Contribution to journal › Letter › peer-review
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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Stenton, S. L., Sheremet, N. L., Catarino, C. B., Andreeva, N. A., Assouline, Z., Barboni, P., Barel, O., Berutti, R., Bychkov, I., Caporali, L., Capristo, M., Carbonelli, M., Cascavilla, M. L., Charbel Issa, P., Freisinger, P., Gerber, S., Ghezzi, D., Graf, E., Heidler, J., Hempel, M., & 34 others, Mar 15 2021, In: Journal of Clinical Investigation. 131, 6, e138267.Research output: Contribution to journal › Article › peer-review
Open Access -
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
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., 2021, In: Frontiers in Neurology. 12Research output: Contribution to journal › Article › peer-review
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Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
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., Jun 9 2021, In: Frontiers in Neurology. 12, 657317.Research output: Contribution to journal › Article › peer-review
Open Access -
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants: Frontiers in Neurology
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., 2021, In: Front. Neurol.. 12Research output: Contribution to journal › Article › peer-review