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

Year Number of Results
1965 1
1966 3
1967 1
1968 2
1969 3
1971 1
1972 2
1973 6
1974 2
1975 2
1977 1
1978 2
1979 3
1980 2
1981 3
1983 5
1984 1
1985 3
1986 2
1987 1
1988 2
1989 4
1990 4
1991 1
1992 1
1993 5
1994 5
1995 9
1996 7
1997 13
1998 11
1999 14
2000 9
2001 16
2002 11
2003 7
2004 15
2005 18
2006 12
2007 20
2008 20
2009 12
2010 15
2011 16
2012 18
2013 13
2014 15
2015 28
2016 26
2017 28
2018 26
2019 32
2020 27
2021 29
2022 27
2023 20
2024 12

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535 results

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Page 1
The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: biraben a. Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093711 Free PMC article.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: nica a. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: nica a. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P. Le Roux M, et al. Among authors: biraben a. Eur J Paediatr Neurol. 2021 Jul;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Epub 2021 May 26. Eur J Paediatr Neurol. 2021. PMID: 34102571 Free article.
French guidelines on stereoelectroencephalography (SEEG).
Isnard J, Taussig D, Bartolomei F, Bourdillon P, Catenoix H, Chassoux F, Chipaux M, Clémenceau S, Colnat-Coulbois S, Denuelle M, Derrey S, Devaux B, Dorfmüller G, Gilard V, Guenot M, Job-Chapron AS, Landré E, Lebas A, Maillard L, McGonigal A, Minotti L, Montavont A, Navarro V, Nica A, Reyns N, Scholly J, Sol JC, Szurhaj W, Trebuchon A, Tyvaert L, Valenti-Hirsch MP, Valton L, Vignal JP, Sauleau P. Isnard J, et al. Among authors: nica a. Neurophysiol Clin. 2018 Feb;48(1):5-13. doi: 10.1016/j.neucli.2017.11.005. Epub 2017 Dec 23. Neurophysiol Clin. 2018. PMID: 29277357 Review.
Epilepsy treatment in the elderly.
Biraben A, De Clerck L, Nica A. Biraben A, et al. Among authors: nica a. Geriatr Psychol Neuropsychiatr Vieil. 2019 Mar 1;17(S1):31-38. doi: 10.1684/pnv.2019.0781. Geriatr Psychol Neuropsychiatr Vieil. 2019. PMID: 30916649 Review. English.
Interpretation of SEEG recordings.
Bartolomei F, Nica A, Valenti-Hirsch MP, Adam C, Denuelle M. Bartolomei F, et al. Among authors: nica a. Neurophysiol Clin. 2018 Feb;48(1):53-57. doi: 10.1016/j.neucli.2017.11.010. Epub 2017 Dec 27. Neurophysiol Clin. 2018. PMID: 29289423 Review.
A randomized, double-blind phase 1b study evaluating the safety, tolerability, pharmacokinetics and pharmacodynamics of the NLRP3 inhibitor selnoflast in patients with moderate to severe active ulcerative colitis.
Klughammer B, Piali L, Nica A, Nagel S, Bailey L, Jochum C, Ignatenko S, Bläuer A, Danilin S, Gulati P, Hayward J, Scepanovic P, Zhang JD, Bhosale S, Chong CF, Christ A. Klughammer B, et al. Among authors: nica a. Clin Transl Med. 2023 Nov;13(11):e1471. doi: 10.1002/ctm2.1471. Clin Transl Med. 2023. PMID: 37962000 Free PMC article. Clinical Trial.
Thrombopoietin and its receptor.
Wendling F, Vainchenker W. Wendling F, et al. Eur Cytokine Netw. 1998 Sep;9(3):221-31. Eur Cytokine Netw. 1998. PMID: 9831170 Free article. Review.
535 results