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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 2
1981 4
1982 2
1983 2
1984 1
1985 1
1986 1
1988 3
1993 1
1994 1
1997 3
1998 3
1999 5
2000 4
2001 1
2002 4
2003 3
2004 2
2005 1
2006 7
2007 5
2008 4
2009 7
2010 2
2011 7
2012 3
2013 7
2014 6
2015 4
2016 7
2017 5
2018 5
2019 4
2020 6
2021 6
2022 6
2023 4
2024 4

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129 results

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Page 1
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. Among authors: simonati a. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Bertolini A, Rigoldi M, Cianflone A, Mariani R, Piperno A, Canonico F, Cefalo G, Carubbi F, Simonati A, Urban ML, Beccari T, Parini R. Bertolini A, et al. Among authors: simonati a. Clin Dysmorphol. 2024 Jan 1;33(1):1-8. doi: 10.1097/MCD.0000000000000474. Epub 2023 Nov 23. Clin Dysmorphol. 2024. PMID: 37791705 Free PMC article.
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: simonati 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
Ataxia in mitochondrial disorders.
Zeviani M, Simonati A, Bindoff LA. Zeviani M, et al. Among authors: simonati a. Handb Clin Neurol. 2012;103:359-72. doi: 10.1016/B978-0-444-51892-7.00022-X. Handb Clin Neurol. 2012. PMID: 21827900 Review.
Human pathology in NCL.
Anderson GW, Goebel HH, Simonati A. Anderson GW, et al. Among authors: simonati a. Biochim Biophys Acta. 2013 Nov;1832(11):1807-26. doi: 10.1016/j.bbadis.2012.11.014. Epub 2012 Nov 29. Biochim Biophys Acta. 2013. PMID: 23200925 Free article. Review.
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A. Filosto M, et al. Among authors: simonati a. Biosci Rep. 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. Biosci Rep. 2007. PMID: 17541738 Review.
129 results