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Page 1
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.
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.
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
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
Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing.
Euskirchen P, Bielle F, Labreche K, Kloosterman WP, Rosenberg S, Daniau M, Schmitt C, Masliah-Planchon J, Bourdeaut F, Dehais C, Marie Y, Delattre JY, Idbaih A. Euskirchen P, et al. Among authors: marie y. Acta Neuropathol. 2017 Nov;134(5):691-703. doi: 10.1007/s00401-017-1743-5. Epub 2017 Jun 21. Acta Neuropathol. 2017. PMID: 28638988 Free PMC article.
A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas.
Rosenberg S, Simeonova I, Bielle F, Verreault M, Bance B, Le Roux I, Daniau M, Nadaradjane A, Gleize V, Paris S, Marie Y, Giry M, Polivka M, Figarella-Branger D, Aubriot-Lorton MH, Villa C, Vasiljevic A, Lechapt-Zalcman E, Kalamarides M, Sharif A, Mokhtari K, Pagnotta SM, Iavarone A, Lasorella A, Huillard E, Sanson M. Rosenberg S, et al. Among authors: marie y. Nat Commun. 2018 Jun 18;9(1):2371. doi: 10.1038/s41467-018-04622-w. Nat Commun. 2018. PMID: 29915258 Free PMC article.
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations.
Boisseau W, Euskirchen P, Mokhtari K, Dehais C, Touat M, Hoang-Xuan K, Sanson M, Capelle L, Nouet A, Karachi C, Bielle F, Guégan J, Marie Y, Martin-Duverneuil N, Taillandier L, Rousseau A, Delattre JY, Idbaih A. Boisseau W, et al. Among authors: marie y. Oncologist. 2019 Dec;24(12):1584-1592. doi: 10.1634/theoncologist.2019-0223. Epub 2019 Jul 25. Oncologist. 2019. PMID: 31346129 Free PMC article.
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.
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S, Boillée S, Larmonier T, Saker S, Leguern E, Cazeneuve C, Marie Y, Guegan J, Gyorgy B, Cintas P, Meininger V, Le Forestier N, Salachas F, Couratier P, Camu W, Seilhean D, Millecamps S. Teyssou E, et al. Among authors: marie y. Neurobiol Aging. 2021 Mar;99:102.e11-102.e20. doi: 10.1016/j.neurobiolaging.2020.10.015. Epub 2020 Oct 23. Neurobiol Aging. 2021. PMID: 33218681
137 results