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

Year Number of Results
1985 1
1986 1
1987 1
1988 1
1990 2
1992 3
1995 2
1996 1
1998 1
1999 2
2001 3
2002 1
2004 2
2005 3
2006 8
2007 5
2008 4
2009 4
2010 7
2011 13
2012 9
2013 9
2014 11
2015 14
2016 14
2017 14
2018 16
2019 15
2020 20
2021 17
2022 11
2023 8
2024 11
2025 7

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218 results

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Page 1
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: canevini mp. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. doi: 10.1016/j.ajhg.2024.05.001. Epub 2024 May 29. Am J Hum Genet. 2024. PMID: 38815585 Free PMC article.
Ring chromosome 20.
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB. Daber RD, et al. Among authors: canevini mp. Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22. Eur J Med Genet. 2012. PMID: 22406087 Free article. Review.
Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST).
Lattanzi S, Canafoglia L, Canevini MP, Casciato S, Chiesa V, Dainese F, De Maria G, Didato G, Falcicchio G, Fanella M, Ferlazzo E, Fisco G, Gangitano M, Giallonardo AT, Giorgi FS, La Neve A, Mecarelli O, Montalenti E, Piazza F, Pulitano P, Quarato PP, Ranzato F, Rosati E, Tassi L, Di Bonaventura C; BRIVAFIRST Group Membership. Lattanzi S, et al. Among authors: canevini mp. CNS Drugs. 2021 Dec;35(12):1289-1301. doi: 10.1007/s40263-021-00856-3. Epub 2021 Sep 2. CNS Drugs. 2021. PMID: 34476770 Free PMC article. Clinical Trial.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Among authors: canevini mp. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
Current concepts on epilepsy management in tuberous sclerosis complex.
Canevini MP, Kotulska-Jozwiak K, Curatolo P, La Briola F, Peron A, Słowińska M, Strzelecka J, Vignoli A, Jóźwiak S. Canevini MP, et al. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):299-308. doi: 10.1002/ajmg.c.31652. Epub 2018 Sep 26. Am J Med Genet C Semin Med Genet. 2018. PMID: 30255982 Free article. Review.
218 results