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

Year Number of Results
1995 1
1996 1
1997 2
1998 2
1999 1
2000 1
2001 3
2002 2
2003 3
2004 1
2007 2
2008 3
2009 6
2010 10
2011 5
2012 4
2013 5
2014 8
2015 1
2016 1
2017 4
2018 7
2019 7
2020 10
2021 6
2022 3
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84 results
Results by year
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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: lebre as. 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.
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: lebre as. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Among authors: lebre as. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
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: lebre as. 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.
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M, Spodenkiewicz M, Cleary M, Massier M, Fitsialos G, Cottin V, Jouret G, Poirsier C, Doco-Fenzy M, Lèbre AS. Spodenkiewicz M, et al. Among authors: lebre as. Biology (Basel). 2020 May 21;9(5):108. doi: 10.3390/biology9050108. Biology (Basel). 2020. PMID: 32455636 Free PMC article. Review.
Spinocerebellar ataxia 7 (SCA7).
Lebre AS, Brice A. Lebre AS, et al. Cytogenet Genome Res. 2003;100(1-4):154-63. doi: 10.1159/000072850. Cytogenet Genome Res. 2003. PMID: 14526176 Review.
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
Espi P, Parajuli S, Benfodda M, Lebre AS, Paudel U, Grange A, Grybek V, Grange T, Soufir N, Grange F. Espi P, et al. Among authors: lebre as. J Eur Acad Dermatol Venereol. 2018 May;32(5):832-839. doi: 10.1111/jdv.14717. Epub 2017 Dec 18. J Eur Acad Dermatol Venereol. 2018. PMID: 29178624
Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.
Hajjar N, Kabbani M, Tannous R, Lebre AS, Megarbane A, Minari A, El Sayed F. Hajjar N, et al. Among authors: lebre as. Adv Skin Wound Care. 2021 Nov 1;34(11):1-4. doi: 10.1097/01.ASW.0000792912.44120.64. Adv Skin Wound Care. 2021. PMID: 34669667
Disseminated Saprochaete capitata fungal infection in a patient with acute myeloid leukemia.
Duarte D, Morais CI, Azevedo R, Coelho F, Martins A, Pereira B, Coelho S, Domingues N, Lebre A, Trigo F, Romero I, Guimarães MA, Mariz JM, Faria F. Duarte D, et al. Among authors: lebre a. Clin Case Rep. 2021 Feb 26;9(4):2489-2491. doi: 10.1002/ccr3.3993. eCollection 2021 Apr. Clin Case Rep. 2021. PMID: 33936726 Free PMC article.
84 results