المؤلفون: Yu, DM, Mathews, CA, Scharf, JM, Neale, BM, Davis, LK, Gamazon, ER, Derks, EM, Evans, P, Edlund, CK, Crane, J, Osiecki, L, Gallagher, P, Gerber, G, Haddad, S, Illmann, C, McGrath, LM, Mayerfeld, C, Arepalli, S, Barlassina, C, Barr, CL, Bellodi, L, Benarroch, F, Berrio, GB, Bienvenu, OJ, Black, DW, Bloch, MH, Brentani, H, Bruun, RD, Budman, CL, Camarena, B, Campbell, DD, Cappi, C, Silgado, JCC, Cavallini, MC, Chavira, DA, Chouinard, S, Cook, EH, Cookson, MR, Coric, V, Cullen, B, Cusi, D, Delorme, R, Denys, D, Dion, Y, Eapen, V, Egberts, K, Falkai, P, Fernandez, T, Fournier, E, Garrido, H, Geller, D, Gilbert, DL, Girard, SL, Grabe, HJ, Grados, MA, Greenberg, BD, Gross-Tsur, V, Grunblatt, E, Hardy, J, Heiman, GA, Hemmings, SMJ, Herrera, LD, Hezel, DM, Hoekstra, PJ, Jankovic, J, Kennedy, JL, King, RA, Konkashbaev, AI, Kremeyer, B, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, JF, Lennertz, L, Liu, CY, Lochner, C, Lowe, TL, Lupoli, S, Macciardi, F, Maier, W, Manunta, P, Marconi, M, McCracken, JT, Restrepo, SCM, Moessner, R, Moorjani, P, Morgan, J, Muller, H, Murphy, DL, Naarden, AL, Nurmi, E, Ochoa, WC, Ophoff, RA, Pakstis, AJ, Pato, MT, Pato, CN, Piacentini, J, Pittenger, C, Pollak, Y, Rauch, SL, Renner, T, Reus, VI, Richter, MA, Riddle, MA, Robertson, MM, Romero, R, Rosario, MC, Rosenberg, D, Ruhrmann, S, Sabatti, C, Salvi, E, Sampaio, AS, Samuels, J, Sandor, P, Service, SK, Sheppard, B, Singer, HS, Smit, JH, Stein, DJ, Strengman, E, Tischfield, JA, Turiel, M, Duarte, AVV, Vallada, H, Veenstra-VanderWeele, J, Walitza, S, Wang, Y, Weale, M, Weiss, R, Wendland, JR, Westenberg, HGM, Shugart, YY, Hounie, AG, Miguel, EC, Nicolini, H, Wagner, M, Ruiz-Linares, A, Cath, DC, McMahon, W, Posthuma, D, Oostra, BA, Nestadt, G, Routeau, GA, Purcell, S, Jenike, MA, Heutink, P, Hanna, GL, Conti, DV, Arnold, PD, Freimer, NB, Stewart, E, Knowles, JA, Cox, NJ, Pauls, DL

المصدر: The American journal of psychiatry. 172(1):82-93

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:130377161Test

المؤلفون: Wolking, S, Moreau, C, McCormack, M, Krause, R, Krenn, M, Berkovic, S, Cavalleri, GL, Delanty, N, Depondt, C, Johnson, MR, Koeleman, BPC, Kunz, WS, Lerche, H, Marson, AG, O'Brien, TJ, Petrovski, S, Sander, JW, Sills, GJ, Striano, P, Zara, F, Zimprich, F, Sisodiya, SM, Girard, SL, Cossette, P

العلاقة: Wolking, S., Moreau, C., McCormack, M., Krause, R., Krenn, M., Berkovic, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Petrovski, S., Sander, J. W., Sills, G. J., Striano, P. ,. Cossette, P. (2021). Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 8 (7), pp.1376-1387. https://doi.org/10.1002/acn3.51374Test.; http://hdl.handle.net/11343/280637Test

الإتاحة: https://doi.org/10.1002/acn3.51374Test
http://hdl.handle.net/11343/280637Test

المؤلفون: Wolking, S, Moreau, C, Nies, AT, Schaeffeler, E, McCormack, M, Auce, P, Avbersek, A, Becker, F, Krenn, M, Møller, RS, Nikanorova, M, Weber, YG, Weckhuysen, S, Cavalleri, GL, Delanty, N, Depondt, C, Johnson, MR, Koeleman, BPC, Kunz, WS, Marson, AG, Sander, JW, Sills, GJ, Striano, P, Zara, F, Zimprich, F, Schwab, M, Krause, R, Sisodiya, SM, Cossette, P, Girard, SL, Lerche, H, EpiPGX Consortium

المصدر: Epilepsia (2020) (In press).

مصطلحات موضوعية: Burden analysis, lamotrigine, levetiracetam, pharmacogenomics, rare variants, valproic acid

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10093256/1/Wolking_et_al-2020-Epilepsia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10093256Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10093256/1/Wolking_et_al-2020-Epilepsia.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10093256Test/

المؤلفون: Davis, LK, Yu, DM, Keenan, CL, Gamazon, ER, Konkashbaev, AI, Derks, EM, Neale, BM, Yang, J, Lee, SH, Evans, P, Barr, CL, Bellodi, L, Benarroch, F, Berrio, GB, Bienvenu, OJ, Bloch, MH, Blom, RM, Bruun, RD, Budman, CL, Camarena, B, Campbell, D, Cappi, C, Silgado, JCC, Cath, DC, Cavallini, MC, Chavira, DA, Chouinard, S, Conti, DV, Cook, EH, Coric, V, Cullen, BA, Deforce, D, Delorme, R, Dion, Y, Edlund, CK, Egberts, K, Falkai, P, Fernandez, TV, Gallagher, PJ, Garrido, H, Geller, D, Girard, SL, Grabe, HJ, Grados, MA, Greenberg, BD, Gross-Tsur, V, Haddad, S, Heiman, GA, Hemmings, SMJ, Hounie, AG, Illmann, C, Jankovic, J, Jenike, MA, Kennedy, JL, King, RA, Kremeyer, B, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, JF, Lennertz, L, Liu, C, Lochner, C, Lowe, TL, Macciardi, F, McCracken, JT, McGrath, LM, Restrepo, SCM, Moessner, R, Morgan, J, Muller, H, Murphy, DL, Naarden, AL, Ochoa, WC, Ophoff, RA, Osiecki, L, Pakstis, AJ, Pato, MT, Pato, CN, Piacentini, J, Pittenger, C, Pollak, Y, Rauch, SL, Renner, TJ, Reus, VI, Richter, MA, Riddle, MA, Robertson, MM, Romero, R, Rosario, MC, Rosenberg, D, Rouleau, GA, Ruhrmann, S, Ruiz-Linares, A, Sampaio, AS, Samuels, J, Sandor, P, Sheppard, B, Singer, HS, Smit, JH, Stein, DJ, Strengman, E, Tischfield, JA, Duarte, AVV, Vallada, H, Van Nieuwerburgh, F, Veenstra-VanderWeele, J, Walitza, S, Wang, Y, Wendland, JR, Westenberg, HGM, Shugart, YY, Miguel, EC, McMahon, W, Wagner, M, Nicolini, H, Posthuma, D, Hanna, GL, Heutink, P, Denys, D, Arnold, PD, Oostra, BA, Nestadt, G, Freimer, NB, Pauls, DL, Wray, NR, Stewart, SE, Mathews, CA, Knowles, JA, Cox, NJ, Scharf, JM

المصدر: PLoS genetics. 9(10):e1003864

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128223814Test

المؤلفون: Müller, SH, Girard, SL, Hopfner, F, Merner, ND, Bourassa, CV, Lorenz, D, Clark, LN, Tittmann, L, Soto-Ortolaza, AI, Klebe, S, Hallett, M, Schneider, SA, Hodgkinson, CA, Lieb, W, Wszolek, ZK, Pendziwiat, M, Lorenzo-Betancor, O, Poewe, W, Ortega-Cubero, S, Seppi, K, Rajput, A, Hussl, A, Rajput, AH, Berg, D, Dion, PA, Wurster, I, Shulman, JM, Srulijes, K, Haubenberger, D, Pastor, P, Vilariño-Güell, C, Postuma, RB, Bernard, G, Ladwig, K-H, Dupré, N, Jankovic, J, Strauch, K, Panisset, M, Winkelmann, J, Testa, CM, Reischl, E, Zeuner, KE, Ross, OA, Arzberger, T, Chouinard, S, Deuschl, G, Louis, ED, Kuhlenbäumer, G, Rouleau, GA

المصدر: Brain , 139 (12) pp. 3163-3169. (2016)

مصطلحات موضوعية: essential tremor, genetics, genome-wide association study, movement disorders, tremor, Humans, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, alpha Catenin

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10064136/1/aww242.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10064136Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10064136/1/aww242.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10064136Test/

المؤلفون: Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Dean Jones, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C, Rouleau, GA

مصطلحات موضوعية: Neurology and neuromuscular diseases, CLTC, DHDDS, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25, epileptic encephalopathy

العلاقة: 102.100.100/563406; https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247Test

الإتاحة: https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247Test

المؤلفون: Turcotte Gauthier M, Nguyen DK, Meloche C, Poirier J, Girard SL, Forlani S, Borroni B, De Michele G, Filla A, Verbeek D, Van de Warrenburg BPC, Drouin CA, Durr A, Brice A, Stevanin G, Cossette P., DI GREGORIO, ELEONORA, BRUSCO, Alfredo

المساهمون: Turcotte Gauthier M, Nguyen DK, Meloche C, Poirier J, Girard SL, Forlani S, Di Gregorio E, Borroni B, De Michele G, Filla A, Verbeek D, Van de Warrenburg BPC, Drouin CA, Durr A, Brice A, Stevanin G, Brusco A, Cossette P

مصطلحات موضوعية: Ataxia, SCA

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:59th Annual meeting of the American Society of Human Genetics; 59th Annual meeting of the American Society of Human Genetics; firstpage:597; lastpage:597; numberofpages:1; http://hdl.handle.net/2318/71826Test

الإتاحة: http://hdl.handle.net/2318/71826Test

المؤلفون: Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM, BELLODI , LAURA

المساهمون: Davis, Lk, Yu, D, Keenan, Cl, Gamazon, Er, Konkashbaev, Ai, Derks, Em, Neale, Bm, Yang, J, Lee, Sh, Evans, P, Barr, Cl, Bellodi, Laura, Benarroch, F, Berrio, Gb, Bienvenu, Oj, Bloch, Mh, Blom, Rm, Bruun, Rd, Budman, Cl, Camarena, B, Campbell, D, Cappi, C, Cardona Silgado, Jc, Cath, Dc, Cavallini, Mc, Chavira, Da, Chouinard, S, Conti, Dv, Cook, Eh, Coric, V, Cullen, Ba, Deforce, D, Delorme, R, Dion, Y, Edlund, Ck, Egberts, K, Falkai, P, Fernandez, Tv, Gallagher, Pj, Garrido, H, Geller, D, Girard, Sl, Grabe, Hj, Grados, Ma, Greenberg, Bd, Gross Tsur, V, Haddad, S, Heiman, Ga, Hemmings, Sm, Hounie, Ag, Illmann, C, Jankovic, J, Jenike, Ma, Kennedy, Jl, King, Ra, Kremeyer, B, Kurlan, R, Lanzagorta, N, Leboyer, M, Leckman, Jf, Lennertz, L, Liu, C, Lochner, C, Lowe, Tl, Macciardi, F, Mccracken, Jt, Mcgrath, Lm, Mesa Restrepo, Sc, Moessner, R, Morgan, J, Muller, H, Murphy, Dl, Naarden, Al, Ochoa, Wc, Ophoff, Ra, Osiecki, L, Pakstis, Aj, Pato, Mt, Pato, Cn, Piacentini, J, Pittenger, C, Pollak, Y, Rauch, Sl, Renner, Tj, Reus, Vi, Richter, Ma, Riddle, Ma, Robertson, Mm, Romero, R, Rosàrio, Mc, Rosenberg, D, Rouleau, Ga, Ruhrmann, S, Ruiz Linares, A, Sampaio, A, Samuels, J, Sandor, P, Sheppard, B, Singer, H, Smit, Jh

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000330367200041; journal:PLOS GENETICS; http://hdl.handle.net/20.500.11768/15554Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887265151

الإتاحة: https://doi.org/20.500.11768/15554Test
https://hdl.handle.net/20.500.11768/15554Test

المؤلفون: Patten, Sa., Margaritte-Jeannin, P., Bernard, Jc., Alix, E., Labalme, A., Besson, A., Girard, Sl., Fendri, K., Fraisse, N., Biot, B., Poizat, C., Campan-Fournier, Amandine, Abelin-Genevois, K., Cunin, V., Zaouter, C., Liao, M., Lamy, R., Lesca, G., Menassa, R., Marcaillou, C., Letexier, M., Sanlaville, D., Berard, J., Rouleau, Ga., Clerget-Darpoux, F., Drapeau, P., Moldovan, F., Edery, P.

المساهمون: Bioinformatique, phylogénie et génomique évolutive (BPGE), Département PEGASE LBBE (PEGASE), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0021-9738 ; Journal of Clinical Investigation ; https://hal.science/hal-02025623Test ; Journal of Clinical Investigation, 2015, 125, pp.1124-1128.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-02025623; https://hal.science/hal-02025623Test

الإتاحة: https://hal.science/hal-02025623Test

المؤلفون: Girard, SL Girard, Simon Lambert, Piche, M Piche, Michel, Chen, HX Chen, Hongxin, Schinn, GW Schinn, Gregory W., Oh, WY Oh, Wang-Yuhl, Bouma, BE Bouma, Brett E.

الإتاحة: http://hdl.handle.net/10203/102616Test