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The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B. Di Feo MF, et al. Among authors: spaccini l. J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28. J Med Genet. 2023. PMID: 36977548 Free article.
CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations.
Moneghini L, Tosi D, Graziani D, Caretti A, Colletti G, Baraldini V, Cattaneo E, Spaccini L, Zocca A, Bulfamante GP. Moneghini L, et al. Among authors: spaccini l. Hum Pathol. 2020 May;99:98-106. doi: 10.1016/j.humpath.2020.04.001. Epub 2020 Apr 6. Hum Pathol. 2020. PMID: 32272124 Free article.
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child.
Faraguna MC, Musto F, Crescitelli V, Iascone M, Spaccini L, Tonduti D, Fedeli T, Kullmann G, Canonico F, Cattoni A, Dell'Acqua F, Rizzari C, Gasperini S. Faraguna MC, et al. Among authors: spaccini l. Genes (Basel). 2022 Feb 28;13(3):442. doi: 10.3390/genes13030442. Genes (Basel). 2022. PMID: 35327996 Free PMC article. Review.
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Moroni A, Pezzani L, Alfei E, Scatigno A, Cereda A, Marzaroli M, Guuva C, Gabbiadini S, Pezzoli L, Marchetti D, Spaccini L, Iascone M. Moroni A, et al. Among authors: spaccini l. Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11. Am J Med Genet A. 2023. PMID: 36772973
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C. Mauri A, et al. Among authors: spaccini l. Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023. Front Genet. 2023. PMID: 36936426 Free PMC article.
71 results