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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 3
2009 7
2010 1
2011 6
2012 3
2013 5
2014 6
2015 4
2016 6
2017 4
2018 4
2019 4
2020 4
2021 6
2022 6
2023 4
2024 1

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116 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.
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.
Management of CLN1 Disease: International Clinical Consensus.
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Augustine EF, et al. Among authors: simonati a. Pediatr Neurol. 2021 Jul;120:38-51. doi: 10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. Pediatr Neurol. 2021. PMID: 34000449 Free article.
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.
116 results