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

Year Number of Results
1982 1
1984 2
1985 2
1986 4
1987 3
1988 5
1989 3
1990 2
1991 4
1992 3
1993 2
1994 1
1995 2
1998 1
1999 2
2000 1
2002 1
2003 2
2006 1
2008 1
2009 1
2010 3
2011 4
2012 5
2013 6
2014 8
2015 5
2016 8
2017 8
2018 3
2019 1
2020 2
2021 1
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89 results
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Page 1
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. Trivisano M, et al. Among authors: cusmai r. Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19. Epilepsia. 2018. PMID: 30451291
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Among authors: cusmai r. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Current role of perampanel in pediatric epilepsy.
De Liso P, Moavero R, Coppola G, Curatolo P, Cusmai R, De Sarro G, Franzoni E, Vigevano F, Verrotti A. De Liso P, et al. Among authors: cusmai r. Ital J Pediatr. 2017 Jun 2;43(1):51. doi: 10.1186/s13052-017-0368-6. Ital J Pediatr. 2017. PMID: 28577562 Free PMC article. Review.
Neuroimaging Changes in Menkes Disease, Part 2.
Manara R, Rocco MC, D'agata L, Cusmai R, Freri E, Giordano L, Darra F, Procopio E, Toldo I, Peruzzi C, Vittorini R, Spalice A, Fusco C, Nosadini M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: cusmai r. AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495940 Free PMC article. Review.
Neuroimaging Changes in Menkes Disease, Part 1.
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: cusmai r. AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495946 Free PMC article. Review.
The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.
Napolitano A, Longo D, Lucignani M, Pasquini L, Rossi-Espagnet MC, Lucignani G, Maiorana A, Elia D, De Liso P, Dionisi-Vici C, Cusmai R. Napolitano A, et al. Among authors: cusmai r. Metabolites. 2020 Dec 10;10(12):504. doi: 10.3390/metabo10120504. Metabolites. 2020. PMID: 33321705 Free PMC article.
ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: cusmai r. Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1. Brain Dev. 2018. PMID: 29395663
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
Trivisano M, Lucchi C, Rustichelli C, Terracciano A, Cusmai R, Ubertini GM, Giannone G, Bertini ES, Vigevano F, Gecz J, Biagini G, Specchio N. Trivisano M, et al. Among authors: cusmai r. Epilepsia. 2017 Jun;58(6):e91-e95. doi: 10.1111/epi.13772. Epub 2017 May 4. Epilepsia. 2017. PMID: 28471529
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