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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA. Scott TM, et al. Among authors: bellomo a. Hum Mutat. 2020 May;41(5):921-925. doi: 10.1002/humu.23992. Epub 2020 Feb 7. Hum Mutat. 2020. PMID: 31999386 Free PMC article.
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium; Dudding-Byth T, Boycott KM. Zambonin JL, et al. Among authors: bellomo a. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Orphanet J Rare Dis. 2017. PMID: 28659154 Free PMC article. Review.
Lessons learned from the failure of solanezumab as a prospective treatment strategy for Alzheimer's disease.
Lozupone M, Dibello V, Sardone R, Castellana F, Zupo R, Lampignano L, Bortone I, Stallone R, Altamura M, Bellomo A, Daniele A, Solfrizzi V, Panza F. Lozupone M, et al. Among authors: bellomo a. Expert Opin Drug Discov. 2024 Jun;19(6):639-647. doi: 10.1080/17460441.2024.2348142. Epub 2024 Apr 29. Expert Opin Drug Discov. 2024. PMID: 38685682 Review.
Prevalence of anxiety and depression risk during the prepartum period in the different groups of women and responses from the Italian National Health Service.
Smorti M, Mirabella F, Calamandrei G, Gigantesco A, Mauri G, Brescianini S, Aceti F, Adulti I, Bagolan P, Barbano G, Bellomo A, Cattaneo M, Cengia E, Fabiano A, Fent A, Ferraro L, Giacchetti N, Grimaldi Capitello T, Grillo A, LA Barbera D, Marcheggiani A, Mazza M, Messina L, Niolu C, Picciano G, Pistillo M, Regonesi M, Riolo R, Sani G, Triggiani A, Tomasello D, Camoni L. Smorti M, et al. Among authors: bellomo a. Minerva Pediatr (Torino). 2023 Oct 31. doi: 10.23736/S2724-5276.23.07410-4. Online ahead of print. Minerva Pediatr (Torino). 2023. PMID: 37906132
287 results