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68 results

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Page 1
A patient with mosaic USP9X gene variant.
Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A. Barili V, et al. Among authors: micalizzi a. Eur J Med Genet. 2022 Dec;65(12):104638. doi: 10.1016/j.ejmg.2022.104638. Epub 2022 Oct 8. Eur J Med Genet. 2022. PMID: 36216272
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: micalizzi a. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. Brandsma R, et al. Among authors: micalizzi a. Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Eur J Paediatr Neurol. 2019. PMID: 31481303 Review.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. Among authors: micalizzi a. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948
Effect of the COVID-19 pandemic on surgery for indeterminate thyroid nodules (THYCOVID): a retrospective, international, multicentre, cross-sectional study.
Medas F, Dobrinja C, Al-Suhaimi EA, Altmeier J, Anajar S, Arikan AE, Azaryan I, Bains L, Basili G, Bolukbasi H, Bononi M, Borumandi F, Bozan MB, Brenta G, Brunaud L, Brunner M, Buemi A, Canu GL, Cappellacci F, Cartwright SB, Castells Fusté I, Cavalheiro B, Cavallaro G, Chala A, Chan SYB, Chaplin J, Cheema MS, Chiapponi C, Chiofalo MG, Chrysos E, D'Amore A, de Cillia M, De Crea C, de Manzini N, de Matos LL, De Pasquale L, Del Rio P, Demarchi MS, Dhiwakar M, Donatini G, Dora JM, D'Orazi V, Doulatram Gamgaram VK, Eismontas V, Kabiri EH, El Malki HO, Elzahaby I, Enciu O, Eskander A, Feroci F, Figueroa-Bohorquez D, Filis D, François G, Frías-Fernández P, Gamboa-Dominguez A, Genc V, Giordano D, Gómez-Pedraza A, Graceffa G, Griffin J, Guerreiro SC, Gupta K, Gupta KK, Gurrado A, Hajiioannou J, Hakala T, Harahap WA, Hargitai L, Hartl D, Hellmann A, Hlozek J, Hoang VT, Iacobone M, Innaro N, Ioannidis O, Jang JHI, Xavier-Junior JC, Jovanovic M, Kaderli RM, Kakamad F, Kaliszewski K, Karamanliev M, Katoh H, Košec A, Kovacevic B, Kowalski LP, Králik R, Yadav SK, Kumorová A, Lampridis S, Lasithiotakis K, Leclere JC, Leong EKF, Leow MK, Lim JY, Lino-Silva LS, Liu SYW, Llorach NP, Lombardi CP, Lóp… See abstract for full author list ➔ Medas F, et al. Lancet Diabetes Endocrinol. 2023 Jun;11(6):402-413. doi: 10.1016/S2213-8587(23)00094-3. Epub 2023 Apr 28. Lancet Diabetes Endocrinol. 2023. PMID: 37127041 Free PMC article.
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Trivisano M, Dominicis A, Stregapede F, Quintavalle C, Micalizzi A, Cappelletti S, Dentici ML, Sinibaldi L, Calabrese C, Terracciano A, Vigevano F, Novelli A, Specchio N. Trivisano M, et al. Among authors: micalizzi a. Epilepsy Behav. 2023 Oct;147:109436. doi: 10.1016/j.yebeh.2023.109436. Epub 2023 Sep 15. Epilepsy Behav. 2023. PMID: 37717460
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Magliocca V, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Barrick R, Trivisano M, Micalizzi A, Borghi R, Messina E, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M. Flex E, et al. Among authors: micalizzi a. Hum Mol Genet. 2023 Jan 13;32(3):473-488. doi: 10.1093/hmg/ddac213. Hum Mol Genet. 2023. PMID: 36018820 Free PMC article.
68 results