Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

137 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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
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
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.
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.
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.
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.
Mutational analysis of primary central nervous system lymphoma.
Bruno A, Boisselier B, Labreche K, Marie Y, Polivka M, Jouvet A, Adam C, Figarella-Branger D, Miquel C, Eimer S, Houillier C, Soussain C, Mokhtari K, Daveau R, Hoang-Xuan K. Bruno A, et al. Among authors: marie y. Oncotarget. 2014 Jul 15;5(13):5065-75. doi: 10.18632/oncotarget.2080. Oncotarget. 2014. PMID: 24970810 Free PMC article.
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.
137 results