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Year Number of Results
2015 10
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2017 13
2018 10
2019 14
2020 6
2021 17
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2023 17
2024 2

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102 results

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls.
Pelizza MF, Martinato M, Rosati A, Nosadini M, Saracco P, Giordano P, Luciani M, Ilardi L, Lasagni D, Molinari AC, Bagna R, Palmieri A, Ramenghi LA, Grassi M, Magarotto M, Magnetti F, Francavilla A, Indolfi G, Suppiej A, Gentilomo C, Restelli R, Tufano A, Tormene D, Pin JN, Tona C, Meneghesso D, Rota L, Conti M, Russo G, Lorenzoni G, Gregori D, Sartori S, Simioni P; Collaborators of the R.I.T.I. (Italian Registry of Infantile Thrombosis). Pelizza MF, et al. Front Pediatr. 2023 Apr 20;11:1094246. doi: 10.3389/fped.2023.1094246. eCollection 2023. Front Pediatr. 2023. PMID: 37152311 Free PMC article.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, Rosati A, Scaturro GM, Giordano L, Cantalupo G, Fontana E, Zammarchi C, Said E, Leuzzi V, Mastrangelo M, Galosi S, Parrini E, Guerrini R. De Maria B, et al. Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29. Am J Med Genet A. 2022. PMID: 34713950
Changes of the cardiac baroreflex bandwidth during postural challenges.
Porta A, Gelpi F, Bari V, Cairo B, De Maria B, Takahashi ACM, Catai AM, Colombo R. Porta A, et al. Among authors: de maria b. Am J Physiol Regul Integr Comp Physiol. 2023 Apr 1;324(4):R601-R612. doi: 10.1152/ajpregu.00305.2022. Epub 2023 Mar 6. Am J Physiol Regul Integr Comp Physiol. 2023. PMID: 36878488 Free article.
102 results