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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20.
Am J Hum Genet. 2024.
PMID: 38118446
Free PMC article.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H.
Calì E, et al.
Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24.
Genet Med. 2022.
PMID: 36001086
Free PMC article.
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Risk factors associated with complications/sequelae of acute and subacute haematogenous osteomyelitis: an Italian multicenter study.
Chiappini E, Krzysztofiak A, Bozzola E, Gabiano C, Esposito S, Lo Vecchio A, Govoni MR, Vallongo C, Dodi I, Castagnola E, Rossi N, Valentini P, Cardinale F, Salvini F, Bona G, Bossi G, Olivieri AN, Russo F, Fossali E, Bottone G, Dellepiane M, De Martino M, Villani A, Galli L.
Chiappini E, et al. Among authors: bottone g.
Expert Rev Anti Infect Ther. 2018 Apr;16(4):351-358. doi: 10.1080/14787210.2018.1453357. Epub 2018 Mar 29.
Expert Rev Anti Infect Ther. 2018.
PMID: 29569505
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Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study.
Raucci U, Parisi P, Vanacore N, La Penna F, Ferro V, Calistri L, Bondone C, Midulla F, Suppiej A, Falsaperla R, Cordelli DM, Palmieri A, Verrotti A, Becciani S, Aguzzi S, Mastrangelo M, Pelizza F, Greco F, Carbonari G, Tallone R, Bottone G, Trenta I, Masi S, Villa MP, Reale A.
Raucci U, et al. Among authors: bottone g.
Eur J Paediatr Neurol. 2017 Sep;21(5):722-729. doi: 10.1016/j.ejpn.2017.05.010. Epub 2017 Jun 3.
Eur J Paediatr Neurol. 2017.
PMID: 28625338
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Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis.
Galli L, Lancella L, Tersigni C, Venturini E, Chiappini E, Bergamini BM, Codifava M, Venturelli C, Tosetti G, Marabotto C, Cursi L, Boccuzzi E, Garazzino S, Tovo PA, Pinon M, Le Serre D, Castiglioni L, Lo Vecchio A, Guarino A, Bruzzese E, Losurdo G, Castagnola E, Bossi G, Marseglia GL, Esposito S, Bosis S, Grandolfo R, Fiorito V, Valentini P, Buonsenso D, Domenici R, Montesanti M, Salvini FM, Riva E, Dodi I, Maschio F, Abbagnato L, Fiumana E, Fornabaio C, Ballista P, Portelli V, Bottone G, Palladino N, Valenzise M, Vecchi B, Di Gangi M, Lupi C, Villani A, de Martino M.
Galli L, et al. Among authors: bottone g.
Int J Mol Sci. 2016 Jun 17;17(6):960. doi: 10.3390/ijms17060960.
Int J Mol Sci. 2016.
PMID: 27322255
Free PMC article.
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Pediatric Epidemic of Salmonella enterica Serovar Typhimurium in the Area of L'Aquila, Italy, Four Years after a Catastrophic Earthquake.
Nigro G, Bottone G, Maiorani D, Trombatore F, Falasca S, Bruno G.
Nigro G, et al. Among authors: bottone g.
Int J Environ Res Public Health. 2016 May 6;13(5):475. doi: 10.3390/ijerph13050475.
Int J Environ Res Public Health. 2016.
PMID: 27164121
Free PMC article.
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