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Newborn screening and gene therapy in SMA: Challenges related to vaccinations.
Kotulska K, Jozwiak S, Jedrzejowska M, Gos M, Ogrodnik M, Wysocki J, Czajka H, Kuchar E. Kotulska K, et al. Among authors: gos m. Front Neurol. 2022 Nov 23;13:890860. doi: 10.3389/fneur.2022.890860. eCollection 2022. Front Neurol. 2022. PMID: 36504644 Free PMC article. Review.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Abiusi E, Costa-Roger M, Bertini ES, Tiziano FD, Tizzano EF; SMN2 Study group; Abiusi E, Baranello G, Bertini E, Boemer F, Burghes A, Codina-Solà M, Costa-Roger M, Dangouloff T, Groen E, Gos M, Jędrzejowska M, Kirschner J, Lemmink HH, Müller-Felber W, Ouillade MC, Quijano-Roy S, Rucinski K, Saugier-Veber P, Tiziano FD, Tizzano EF, Wirth B. Abiusi E, et al. Among authors: gos m. Neuromuscul Disord. 2024 Jan;34:114-122. doi: 10.1016/j.nmd.2023.12.008. Epub 2023 Dec 14. Neuromuscul Disord. 2024. PMID: 38183850 Free article.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: gos m. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.
Braun-Walicka N, Pluta A, Wolak T, Maj E, Maryniak A, Gos M, Abramowicz A, Landowska A, Obersztyn E, Bal J. Braun-Walicka N, et al. Among authors: gos m. Genes (Basel). 2023 Dec 3;14(12):2173. doi: 10.3390/genes14122173. Genes (Basel). 2023. PMID: 38136995 Free PMC article.
78 results