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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 3
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Article type
Publication date

Search Results

109 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
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE. Mole SE, et al. Among authors: simonati a. Orphanet J Rare Dis. 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. Orphanet J Rare Dis. 2021. PMID: 33882967 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.
Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.
Darra F, Lo Barco T, Opri R, Parrini E, Bianchini C, Fiorini E, Simonati A, Dalla Bernardina B, Cantalupo G, Guerrini R. Darra F, et al. Among authors: simonati a. Neurol Genet. 2021 May 14;7(3):e593. doi: 10.1212/NXG.0000000000000593. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34017911 Free PMC article.
NCL diseases - clinical perspectives.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Schulz A, et al. Among authors: simonati a. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. Biochim Biophys Acta. 2013. PMID: 23602993 Free PMC article.
109 results