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1987 1
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73 results

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Page 1
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: legati a. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.
Di Michele M, Attina A, Roux PF, Tabet I, Laguesse S, Florido J, Houdeville M, Choquet A, Encislai B, Arena G, De Blasio C, Wendling O, Frenois FX, Papon L, Stuani L, Fuentes M, Jahannault Talignani C, Rousseau M, Guégan J, Buscail Y, Dupré P, Michaud HA, Rodier G, Bellvert F, Kulyk H, Ferraro Peyret C, Mathieu H, Close P, Rapino F, Chaveroux C, Pirot N, Rubio L, Torro A, Sorg T, Ango F, Hirtz C, Compan V, Lebigot E, Legati A, Ghezzi D, Nguyen L, David A, Sardet C, Lacroix M, Le Cam L. Di Michele M, et al. Among authors: legati a. Nat Commun. 2025 Jan 2;16(1):67. doi: 10.1038/s41467-024-55444-y. Nat Commun. 2025. PMID: 39747033 Free PMC article.
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M; Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU); Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M. Bonfiglio F, et al. Among authors: legati a. Hum Genomics. 2024 Nov 5;18(1):120. doi: 10.1186/s40246-024-00684-8. Hum Genomics. 2024. PMID: 39501379 Free PMC article. Review.
Brain calcifications and PCDH12 variants.
Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM. Nicolas G, et al. Among authors: legati a. Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28804758 Free PMC article.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: legati a. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
73 results