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Page 1
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Among authors: marie y. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
Parental 19q loss and PEG3 expression in oligodendrogliomas.
Trouillard O, Aguirre-Cruz L, Hoang-Xuan K, Marie Y, Delattre JY, Sanson M. Trouillard O, et al. Among authors: marie y. Cancer Genet Cytogenet. 2004 Jun;151(2):182-3. doi: 10.1016/j.cancergencyto.2003.09.021. Cancer Genet Cytogenet. 2004. PMID: 15172758 No abstract available.
RAD51 haploinsufficiency causes congenital mirror movements in humans.
Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. Depienne C, et al. Among authors: marie y. Am J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305526 Free PMC article.
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.
Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D; French research network on FTD and FTD-ALS; Brice A, Marie Y, Le Ber I. Millecamps S, et al. Among authors: marie y. Neurobiol Aging. 2014 Dec;35(12):2882.e13-2882.e15. doi: 10.1016/j.neurobiolaging.2014.07.016. Epub 2014 Jul 18. Neurobiol Aging. 2014. PMID: 25158920
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. Among authors: marie y. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
Berrechid AG, Bendjebara M, Bouteiller D, Nasri A, Peuvion JN, Marie Y, Baulac S, Mrabet S, Ribierre T, Cazeneuve C, Imenkacem, Leguern E, Gouider R. Berrechid AG, et al. Among authors: marie y. Epileptic Disord. 2019 Aug 1;21(4):359-365. doi: 10.1684/epd.2019.1078. Epileptic Disord. 2019. PMID: 31368437
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: marie y. Tremor Other Hyperkinet Mov (N Y). 2019 Nov 22;9. doi: 10.7916/tohm.v0.693. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31824749 Free PMC article.
Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease.
Prud'hon S, Bekadar S, Rastetter A, Guégan J, Cormier-Dequaire F, Lacomblez L, Mangone G, You H, Daniau M, Marie Y, Bertrand H, Lesage S, Tezenas Du Montcel S, Anheim M, Brice A, Danjou F, Corvol JC. Prud'hon S, et al. Among authors: marie y. Front Neurol. 2020 Jul 21;11:641. doi: 10.3389/fneur.2020.00641. eCollection 2020. Front Neurol. 2020. PMID: 32793093 Free PMC article.
137 results