المؤلفون: Fuerte, EPA, Nguyen, J, Mehaffey, M, Sulovari, A, Wang, TY, Galey, M, Miller, DE, Eichler, EE, Mefford, HC, Khalil, BA, Afawi, ZA, Allen, AS, Amrom, D, Andermann, E, Bautista, JF, Bellows, ST, Berkovic, SF, Bluvstein, J, Boro, A, Burgess, R, Cascino, GD, Chung, SK, Consalvo, D, Cossette, P, Crompton, DE, Crumrine, P, Curtis, SW, Delanty, N, Devinsky, O, Dlugos, D, Ellis, CA, Epstein, MP, Fiol, M, Fountain, NB, Freyer, C, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Harris, RV, Haut, S, Heinzen, EL, Helmers, S, Henry, OJ, Joshi, S, Kirsch, HE, Kivity, S, Knowlton, RC, Kossoff, E, Kuzniecky, R, Loeb, R, Lowenstein, DH, Marson, AG, McCormack, M, McGuire, SM, McKenna, K, Motika, PV, Mullen, SA, Novotny, EJ, O'Brien, TJ, Oliver, KL, Ottman, R, Paolicchi, JM, Parent, JM, Park, KL, Paterson, SJ, Petrovski, S, Pickrell, WO, Poduri, A, Rees, MI, Sadleir, LG, Scheffer, IE, Shellhaas, RA, Sherr, EH, Shih, JJ, Shinnar, S, Singh, RK, Sirven, J, Smith, MC, Smith, PEM, Sperling, MR, Sullivan, J, Thio, LL, Thomas, RH, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, J, Widdess-Walsh, P, Winawer, MR

المصدر: Epilepsia. 65(3):792-804

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:155315414

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 103(5):666-678

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139492388

المؤلفون: Stevelink R, Campbell C, Chen S, Abou-Khalil B, Adesoji OM, Afawi Z, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Auce P, Avbersek A, Bahlo M, Baker MD, Balagura G, Balestrini S, Barba C, Barboza K, Bartolomei F, Bast T, Baum L, Baumgartner T, Baykan B, Bebek N, Becker AJ, Becker F, Bennett CA, Berghuis B, Berkovic SF, Beydoun A, Bianchini C, Bisulli F, Blatt I, Bobbili DR, Borggraefe I, Bosselmann C, Braatz V, Bradfield JP, Brockmann K, Brody LC, Buono RJ, Busch RM, Caglayan H, Campbell E, Canafoglia L, Canavati C, Cascino GD, Castellotti B, Catarino CB, Cavalleri GL, Cerrato F, Chassoux F, Cherny SS, Cheung C-L, Chinthapalli K, Chou I-J, Chung S-K, Churchhouse C, Clark PO, Cole AJ, Compston A, Coppola A, Cosico M, Cossette P, Craig JJ, Cusick C, Daly MJ, Davis LK, de Haan G-J, Delanty N, Depondt C, Derambure P, Devinsky O, Di Vito L, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Elger CE, Ellis CA, Eriksson JG, Faucon A, Feng Y-CA, Ferguson L, Ferraro TN, Ferri L, Feucht M, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, Franke A, French JA, Freri E, Gagliardi M, Gambardella A, Geller EB, Giangregorio T, Gjerstad L, Glauser T, Goldberg E, Goldman A, Granata T, Greenberg DA, Guerrini R, Gupta N, Haas KF, Hakonarson H, Hallmann K, Hassanin E, Hegde M, Heinzen EL, Helbig I, Hengsbach C, Heyne HO, Hirose S, Hirsch E, Hjalgrim H, Howrigan DP, Hucks D, Hung P-C, Iacomino M, Imbach LL, Inoue Y, Ishii A, Jamnadas-Khoda J, Jehi L, Johnson MR, Kalviainen R, Kamatani Y, Kanaan M, Kanai M, Kantanen A-M, Kara B, Kariuki SM, Kasperaviciute D, Kasteleijn-Nolst Trenite D, Kato M, Kegele J, Kesim Y, Khoueiry-Zgheib N, King C, Kirsch HE, Klein KM, Kluger G, Knake S, Knowlton RC, Koeleman BPC, Korczyn AD, Koupparis A, Kousiappa I, Krause R, Krenn M, Krestel H, Krey I, Kunz WS, Kurki MI, Kurlemann G, Kuzniecky R, Kwan P, Labate A, Lacey A, Lal D, Landoulsi Z, Lau Y-L, Lauxmann S, Leech SL, Lehesjoki A-E, Lemke JR, Lerche H, Lesca G, Leu C, Lewin N, Lewis-Smith D, Li GH-Y, Li QS, Licchetta L, Lin K-L, Lindhout D, Linnankivi T, Lopes-Cendes I, Lowenstein DH, Lui CHT, Madia F, Magnusson S, Marson AG, May P, McGraw CM, Mei D, Mills JL, Minardi R, Mirza N, Moller RS, Molloy AM, Montomoli M, Mostacci B, Muccioli L, Muhle H, Muller-Schluter K, Najm IM, Nasreddine W, Neale BM, Neubauer B, Newton CRJC, Nothen MM, Nothnagel M, Nurnberg P, O'Brien TJ, Okada Y, Olafsson E, Oliver KL, Ozkara C, Palotie A, Pangilinan F, Papacostas SS, Parrini E, Pato CN, Pato MT, Pendziwiat M, Petrovski S, Pickrell WO, Pinsky R, Pippucci T, Poduri A, Pondrelli F, Powell RHW, Privitera M, Rademacher A, Radtke R, Ragona F, Rau S, Rees MI, Regan BM, Reif PS, Rhelms S, Riva A, Rosenow F, Ryvlin P, Saarela A, Sadleir LG, Sander JW, Sander T, Scala M, Scattergood T, Schachter SC, Schankin CJ, Scheffer IE, Schmitz B, Schoch S, Schubert-Bast S, Schulze-Bonhage A, Scudieri P, Sham P, Sheidley BR, Shih JJ, Sills GJ, Sisodiya SM, Smith MC, Smith PE, Sonsma ACM, Speed D, Sperling MR, Stefansson H, Stefansson K, Steinhoff BJ, Stephani U, Stewart WC, Stipa C, Striano P, Stroink H, Strzelczyk A, Surges R, Suzuki T, Tan KM, Taneja RS, Tanteles GA, Tauboll E, Thio LL, Thomas GN, Thomas RH, Timonen O, Tinuper P, Todaro M, Topaloglu P, Tozzi R, Tsai M-H, Tumiene B, Turkdogan D, Unnsteinsdottir U, Utkus A, Vaidiswaran P, Valton L, van Baalen A, Vetro A, Vining EPG, Visscher F, von Brauchitsch S, von Wrede R, Wagner RG, Weber YG, Weckhuysen S, Weisenberg J, Weller M, Widdess-Walsh P, Wolff M, Wolking S, Wu D, Yamakawa K, Yang W, Yapici Z, Yucesan E, Zagaglia S, Zahnert F, Zara F, Zhou W, Zimprich F, Zsurka G, Zulfiqar Ali Q

المصدر: Nature Genetics, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293319; https://eprints.ncl.ac.uk/fulltext.aspx?url=293319/C38CDCD2-0D5D-4B3D-B030-88EDA47AB028.pdf&pub_id=293319

الاتاحة: https://eprints.ncl.ac.uk/293319

المؤلفون: Stevelink, R, Campbell, C, Chen, S, Abou-Khalil, B, Adesoji, OM, Afawi, Z, Amadori, E, Anderson, A, Anderson, J, Andrade, DM, Annesi, G, Auce, P, Avbersek, A, Bahlo, M, Baker, MD, Balagura, G, Balestrini, S, Barba, C, Barboza, K, Bartolomei, F, Bast, T, Baum, L, Baumgartner, T, Baykan, B, Bebek, N, Becker, AJ, Becker, F, Bennett, CA, Berghuis, B, Berkovic, SF, Beydoun, A, Bianchini, C, Bisulli, F, Blatt, I, Bobbili, DR, Borggraefe, I, Bosselmann, C, Braatz, V, Bradfield, JP, Brockmann, K, Brody, LC, Buono, RJ, Busch, RM, Caglayan, H, Campbell, E, Canafoglia, L, Canavati, C, Cascino, GD, Castellotti, B, Catarino, CB, Cavalleri, GL, Cerrato, F, Chassoux, F, Cherny, SS, Cheung, C-L, Chinthapalli, K, Chou, I-J, Chung, S-K, Churchhouse, C, Clark, PO, Cole, AJ, Compston, A, Coppola, A, Cosico, M, Cossette, P, Craig, JJ, Cusick, C, Daly, MJ, Davis, LK, de Haan, G-J, Delanty, N, Depondt, C, Derambure, P, Devinsky, O, Di Vito, L, Dlugos, DJ, Doccini, V, Doherty, CP, El-Naggar, H, Elger, CE, Ellis, CA, Eriksson, JG, Faucon, A, Feng, Y-CA, Ferguson, L, Ferraro, TN, Ferri, L, Feucht, M, Fitzgerald, M, Fonferko-Shadrach, B, Fortunato, F, Franceschetti, S, Franke, A, French, JA, Freri, E, Gagliardi, M, Gambardella, A, Geller, EB, Giangregorio, T, Gjerstad, L, Glauser, T, Goldberg, E, Goldman, A, Granata, T, Greenberg, DA, Guerrini, R, Gupta, N, Haas, KF, Hakonarson, H, Hallmann, K, Hassanin, E, Hegde, M, Heinzen, EL, Helbig, I, Hengsbach, C, Heyne, HO, Hirose, S, Hirsch, E, Hjalgrim, H, Howrigan, DP, Hucks, D, Hung, P-C, Iacomino, M, Imbach, LL, Inoue, Y, Ishii, A, Jamnadas-Khoda, J, Jehi, L, Johnson, MR, Kalviainen, R, Kamatani, Y, Kanaan, M, Kanai, M, Kantanen, A-M, Kara, B, Kariuki, SM, Kasperaviciute, D, Trenite, DK-N, Kato, M, Kegele, J, Kesim, Y, Khoueiry-Zgheib, N, King, C, Kirsch, HE, Klein, KM, Kluger, G, Knake, S, Knowlton, RC, Koeleman, BPC, Korczyn, AD, Koupparis, A, Kousiappa, I, Krause, R, Krenn, M, Krestel, H, Krey, I, Kunz, WS, Kurki, MI, Kurlemann, G, Kuzniecky, R, Kwan, P, Labate, A, Lacey, A, Lal, D, Landoulsi, Z, Lau, Y-L, Lauxmann, S, Leech, SL, Lehesjoki, A-E, Lemke, JR, Lerche, H, Lesca, G, Leu, C, Lewin, N, Lewis-Smith, D, Li, GH-Y, Li, QS, Licchetta, L, Lin, K-L, Lindhout, D, Linnankivi, T, Lopes-Cendes, I, Lowenstein, DH, Lui, CHT, Madia, F, Magnusson, S, Marson, AG, May, P, McGraw, CM, Mei, D, Mills, JL, Minardi, R, Mirza, N, Moller, RS, Molloy, AM, Montomoli, M, Mostacci, B, Muccioli, L, Muhle, H, Mueller-Schlueter, K, Najm, IM, Nasreddine, W, Neale, BM, Neubauer, B, Newton, CRJC, Noethen, MM, Nothnagel, M, Nuernberg, P, O'Brien, TJ, Okada, Y, Olafsson, E, Oliver, KL, Ozkara, C, Palotie, A, Pangilinan, F, Papacostas, SS, Parrini, E, Pato, CN, Pato, MT, Pendziwiat, M, Petrovski, S, Pickrell, WO, Pinsky, R, Pippucci, T, Poduri, A, Pondrelli, F, Powell, RHW, Privitera, M, Rademacher, A, Radtke, R, Ragona, F, Rau, S, Rees, MI, Regan, BM, Reif, PS, Rhelms, S, Riva, A, Rosenow, F, Ryvlin, P, Saarela, A, Sadleir, LG, Sander, JW, Sander, T, Scala, M, Scattergood, T, Schachter, SC, Schankin, CJ, Scheffer, IE, Schmitz, B, Schoch, S, Schubert-Bast, S, Schulze-Bonhage, A, Scudieri, P, Sham, P, Sheidley, BR, Shih, JJ, Sills, GJ, Sisodiya, SM, Smith, MC, Smith, PE, Sonsma, ACM, Speed, D, Sperling, MR, Stefansson, H, Stefansson, K, Steinhoff, BJ, Stephani, U, Stewart, WC, Stipa, C, Striano, P, Stroink, H, Strzelczyk, A, Surges, R, Suzuki, T, Tan, KM, Taneja, RS, Tanteles, GA, Tauboll, E, Thio, LL, Thomas, GN, Thomas, RH, Timonen, O, Tinuper, P, Todaro, M, Topaloglu, P, Tozzi, R, Tsai, M-H, Tumiene, B, Turkdogan, D, Unnsteinsdottir, U, Utkus, A, Vaidiswaran, P, Valton, L, van Baalen, A, Vetro, A, Vining, EPG, Visscher, F, von Brauchitsch, S, von Wrede, R, Wagner, RG, Weber, YG, Weckhuysen, S, Weisenberg, J, Weller, M, Widdess-Walsh, P, Wolff, M, Wolking, S, Wu, D, Yamakawa, K, Yang, W, Yapici, Z, Yucesan, E, Zagaglia, S, Zahnert, F, Zara, F, Zhou, W, Zimprich, F, Zsurka, G, Ali, QZ

Relation: NHMRC/1091593; pii: 10.1038/s41588-023-01485-w; Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O. M., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D. M., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M. D., Balagura, G., Balestrini, S., Barba, C., Barboza, K. ,. Ali, Q. Z. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. NATURE GENETICS, 55 (9), pp.1471-+. https://doi.org/10.1038/s41588-023-01485-w.; http://hdl.handle.net/11343/337633

الاتاحة: http://hdl.handle.net/11343/337633

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Sadeghpour, A, Davis, EE, Katsanis, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 104(3):562-562

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140457584

المؤلفون: Abou-Khalil, B, Auce, P, Avbersek, A, Bahlo, M, Balding, DJ, Bast, T, Baum, L, Becker, AJ, Becker, F, Berghuis, B, Berkovic, SF, Boysen, KE, Bradfield, JP, Brody, LC, Buono, RJ, Campbell, E, Cascino, GD, Catarino, CB, Cavalleri, GL, Cherny, SS, Chinthapalli, K, Coffey, AJ, Compston, A, Coppola, A, Cossette, P, Craig, JJ, de Haan, G-J, De Jonghe, P, de Kovel, CGF, Delanty, N, Depondt, C, Devinsky, O, Dlugos, DJ, Doherty, CP, Elger, CE, Eriksson, JG, Ferraro, TN, Feucht, M, Francis, B, Franke, A, French, JA, Freytag, S, Gaus, V, Geller, EB, Gieger, C, Glauser, T, Glynn, S, Goldstein, DB, Gui, H, Guo, Y, Haas, KF, Hakonarson, H, Hallmann, K, Haut, S, Heinzen, EL, Helbig, I, Hengsbach, C, Hjalgrim, H, Iacomino, M, Ingason, A, Jamnadas-Khoda, J, Johnson, MR, Kalviainen, R, Kantanen, A-M, Kasperaviciute, D, Trenite, DK-N, Kirsch, HE, Knowlton, RC, Koeleman, BPC, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Kwan, P, Lal, D, Lau, Y-L, Lehesjoki, A-E, Lerche, H, Leu, C, Lieb, W, Lindhout, D, Lo, WD, Lopes-Cendes, I, Lowenstein, DH, Malovini, A, Marson, AG, Mayer, T, McCormack, M, Mills, JL, Mirza, N, Moerzinger, M, Moller, RS, Molloy, AM, Muhle, H, Newton, M, Ng, P-W, Noethen, MM, Nuernberg, P, O'Brien, TJ, Oliver, KL, Palotie, A, Pangilinan, F, Peter, S, Petrovski, S, Poduri, A, Privitera, M, Radtke, R, Rau, S, Reif, PS, Reinthaler, EM, Rosenow, F, Sander, JW, Sander, T, Scattergood, T, Schachter, SC, Schankin, CJ, Scheffer, IE, Schmitz, B, Schoch, S, Sham, PC, Shih, JJ, Sills, GJ, Sisodiya, SM, Slattery, L, Smith, A, Smith, DF, Smith, MC, Smith, PE, Sonsma, ACM, Speed, D, Sperling, MR, Steinhoff, BJ, Stephani, U, Stevelink, R, Strauch, K, Striano, P, Stroink, H, Surges, R, Tan, KM, Thio, LL, Thomas, GN, Todaro, M, Tozzi, R, Vari, MS, Vining, EPG, Visscher, F, von Spiczak, S, Walley, NM, Weber, YG, Wei, Z, Weisenberg, J, Whelan, CD, Widdess-Walsh, P, Wolff, M, Wolking, S, Yang, W, Zara, F, Zimprich, F

المصدر: Nature Communications , 9 , Article 5269. (2018)

مصطلحات موضوعية: Epilepsy, Genetics of the nervous system, Genetics research, Genome-wide association studies

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10064853/3/s41467-018-07524-z.pdf; https://discovery.ucl.ac.uk/id/eprint/10064853/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10064853/3/s41467-018-07524-z.pdf
https://discovery.ucl.ac.uk/id/eprint/10064853/

المؤلفون: Allen, AS, Berkovic, SF, Bridgers, J, Cossette, P, Dlugos, D, Epstein, MP, Glauser, T, Goldstein, DB, Heinzen, EL, Jiang, Y, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Petrou, S, Petrovski, S, Poduri, A, Ren, Z, Scheffer, IE, Sherr, E, Wang, Q, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Helbig, I, Hjalgrim, H, Hoffman-Zacharska, D, Jaehn, J, Klein, KM, Koeleman, B, Komarek, V, Krause, R, Leguern, E, Lehesjoki, A-E, Lemke, JR, Lerche, H, Linnankivi, T, Marini, C, May, P, Moller, RS, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, S, Stephani, U, Sterbova, K, Striano, P, Suls, A, Talvik, T, von Spiczak, S, Weber, Y, Weckhuysen, S, Zara, F, Abou-Khalil, B, Alldredge, BK, Amrom, D, Andermann, E, Andermann, F, Bautista, JF, Bluvstein, J, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, ME, Fountain, NB, French, J, Friedman, D, Haas, K, Haut, SR, Hayward, J, Joshi, S, Kanner, A, Kirsch, HE, Kossoff, EH, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, J, Park, K, Shellhaas, RA, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

المصدر: European Journal of Human Genetics , 25 (7) pp. 894-899. (2017)

مصطلحات موضوعية: Epilepsy, Risk factors

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10082842/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10082842/

المؤلفون: Allen, AS, Bellows, ST, Berkovic, SF, Bridgers, J, Burgess, R, Cavalleri, G, Chung, S-K, Cossette, P, Delanty, N, Dlugos, D, Epstein, MP, Freyer, C, Goldstein, DB, Heinzen, EL, Hildebrand, MS, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mayeux, R, Mebane, C, Mefford, HC, O'Brien, TJ, Ottman, R, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A, Radtke, RA, Rees, MI, Regan, BM, Ren, Z, Scheffer, IE, Sills, GJ, Thomas, RH, Wang, Q, Abou-Khalil, B, Alldredge, BK, Amrom, D, Andermann, E, Andermann, F, Bautista, JF, Bluvstein, J, Boro, A, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Haas, K, Haut, SR, Hayward, J, Helmers, SL, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, EH, Kuperman, R, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, JM, Park, K, Sadleir, LG, Shellhaas, RA, Sherr, EH, Shih, JJ, Shinnar, S, Singh, RK, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

المساهمون: Imperial College Healthcare NHS Trust- BRC Funding

المصدر: 143 ; 135

مصطلحات موضوعية: 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery

Relation: The Lancet Neurology; http://hdl.handle.net/10044/1/61024; https://dx.doi.org/10.1016/S1474-4422(16)30359-3; RDA03

الاتاحة: http://hdl.handle.net/10044/1/61024
https://doi.org/10.1016/S1474-4422(16)30359-3

المؤلفون: Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P, Alldredge, BK, Allen, AS, Altmüller, J, Amrom, D, Andermann, E, Auce, P, Avbersek, A, Baulac, S, Bautista, JF, Becker, F, Bellows, Susannah, Berghuis, B, Berkovic, SF, Bluvstein, J, Boro, A, Bridgers, J, Burgess, R, Caglayan, H, Cascino, GD, Cavalleri, GL, Chung, SK, Cieuta-Walti, C, Cloutier, V, Consalvo, D, Cossette, P, Crumrine, P, Delanty, N, Depondt, C, Desbiens, R, Devinsky, O, Dlugos, D, Epstein, MP, Everett, K, Fiol, M, Fountain, NB, Francis, B, French, J, Freyer, C, Friedman, D, Gambardella, A, Geller, EB, Girard, S, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Haut, SR, Heinzen, EL, Helbig, I, Hildebrand, MS, Johnson, MR, Jorgensen, A, Joshi, S, Kanner, A, Kirsch, HE, Klein, KM, Knowlton, RC, Koeleman, BPC, Kossoff, EH, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Langley, SR, LeGuern, E, Lehesjoki, AE, Lerche, H, Leu, C, Lortie, A, Lowenstein, DH, Marson, AG, Mebane, C, Mefford, HC, Meloche, C, Moreau, C, Motika, PV, Muhle, H, Møller, RS, Nabbout, R, Nguyen, DK, Nikanorova, M, Novotny, EJ, Nürnberg, P, Ottman, R, O’Brien, TJ, Paolicchi, JM, Parent, JM, Park, K, Peter, S, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A

مصطلحات الفهرس: familial epilepsy, GABAA receptors, GABRG2, GGE, sporadic epilepsy, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30162056
http://doi.org/10.1111/epi.17166
http://elements.deakin.edu.au/viewobject.html?id=293082&cid=1
issn: 0013-9580
issn: 1528-1167
http://doi.org/10.1111/epi.17166
http://elements.deakin.edu.au/viewobject.html?id=293082&cid=1
Epilepsia

المؤلفون: Allen AS, Bellows ST, Berkovic SF, Bridgers J, Burgess R, Cavalleri G, Chung S-K, Cossette P, Delanty N, Dlugos D, Epstein MP, Freyer C, Goldstein DB, Heinzen EL, Hildebrand MS, Johnson MR, Kuzniecky R, Lowenstein DH, Marson AG, Mayeux R, Mebane C, Mefford HC, O'Brien TJ, Ottman R, Petrou S, Petrovski S, Pickrell WO, Radtke RA, Rees MI, Regan BM, Ren Z, Scheffer IE, Sills GJ, Thomas RH, Wang Q, Abou-Khalil B, Alldredge BK, Amrom D, Andermann E, Andermann F, Bautista JF, Bluvstein J, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haas K, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Motika PV, Novotny EJ, Paolicchi JM, Parent JM, Park K, Poduri A, Sadleir LG, Shellhaas RA, Sherr EH, Shih JJ, Shinnar S, Singh RK, Sirven J, Smith MC, Sullivan J, Thio LL, Venkat A, Vining EPG, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR

المصدر: The Lancet Neurology, 1 February 2017

Relation: https://eprints.ncl.ac.uk/241082

الاتاحة: https://eprints.ncl.ac.uk/241082

المؤلفون: Hesdorffer DC, Cascino GD, LOGROSCINO, Giancarlo

المساهمون: Hesdorffer, Dc, Logroscino, Giancarlo, Cascino, Gd

Relation: volume:69; issue:1; firstpage:73; lastpage:78; numberofpages:6; journal:NEUROLOGY; http://hdl.handle.net/11586/131436; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34347387286

الاتاحة: http://hdl.handle.net/11586/131436

المؤلفون: Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA

المساهمون: Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA

مصطلحات موضوعية: bilateral symmetric polymicrogyria

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000221603900012; volume:62; issue:10; firstpage:1722; lastpage:1728; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/11585/721397

الاتاحة: http://hdl.handle.net/11585/721397

المؤلفون: LOGROSCINO, Giancarlo, HESDORFFER DC, CASCINO GD, ANNEGERS JF, BAGIELLA E, HAUSER WA

المساهمون: Logroscino, Giancarlo, Hesdorffer, Dc, Cascino, Gd, Annegers, Jf, Bagiella, E, Hauser, Wa

Relation: volume:feb 26; 58 (4); firstpage:537; lastpage:541; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11586/43135

الاتاحة: http://hdl.handle.net/11586/43135

المؤلفون: Allen, AS, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Glauser, T, Goldstein, DB, Han, Y, Heinzen, EL, Hitomi, Y, Howell, KB, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Lu, Y-F, Madou, MRZ, Marson, AG, Mefford, HC, Nieh, SE, O'Brien, TJ, Ottman, R, Petrovski, S, Poduri, A, Ruzzo, EK, Scheffer, IE, Sherr, EH, Yuskaitis, CJ, Abou-Khalil, B, Alldredge, BK, Bautista, JF, Boro, A, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glynn, S, Haut, SR, Hayward, J, Helmers, SL, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, E, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, JM, Park, K, Shellhaas, RA, Shih, JJ, Singh, R, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

Relation: pii: nature12439; Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Goldstein, D. B., Han, Y., Heinzen, E. L., Hitomi, Y., Howell, K. B., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Lu, Y. -F., Madou, M. R. Z., Marson, A. G. ,. Winawer, M. R. (2013). De novo mutations in epileptic encephalopathies. NATURE, 501 (7466), pp.217-+. https://doi.org/10.1038/nature12439.; http://hdl.handle.net/11343/268811

الاتاحة: http://hdl.handle.net/11343/268811

المؤلفون: CASCINO GD, HESDORFFER D, HAUSER WA, LOGROSCINO, Giancarlo

المساهمون: Cascino, Gd, Hesdorffer, D, Logroscino, Giancarlo, Hauser, Wa

Relation: volume:Jan;76(1); firstpage:39; lastpage:41; numberofpages:3; journal:MAYO CLINIC PROCEEDINGS; http://hdl.handle.net/11586/5057

الاتاحة: http://hdl.handle.net/11586/5057

المؤلفون: CASCINO GD, HESDORFFER D, HAUSER WA, LOGROSCINO, Giancarlo

المساهمون: Cascino, Gd, Hesdorffer, D, Logroscino, Giancarlo, Hauser, Wa

Relation: volume:Aug;39(8); firstpage:829; lastpage:832; numberofpages:4; journal:EPILEPSIA; http://hdl.handle.net/11586/77871

الاتاحة: http://hdl.handle.net/11586/77871

المؤلفون: Hesdorffer DC, Cascino GD, LOGROSCINO, Giancarlo

المساهمون: Hesdorffer, Dc, Logroscino, Giancarlo, Cascino, Gd

Relation: volume:48; issue:3 suppl 2; firstpage:40001; journal:NEUROLOGY; http://hdl.handle.net/11586/33084

الاتاحة: http://hdl.handle.net/11586/33084

المؤلفون: Chang, BS, Piao, No Value, Giannini, C, Cascino, GD, Scheffer, No Value, Woods, CG, Topcu, M, Tezcan, K, Bodell, A, Leventer, RJ, Barkovich, AJ, Grant, PE, Walsh, CA

المصدر: Chang , BS , Piao , N V , Giannini , C , Cascino , GD , Scheffer , N V , Woods , CG , Topcu , M , Tezcan , K , Bodell , A , Leventer , RJ , Barkovich , AJ , Grant , PE & Walsh , CA 2004 , ' Bilateral generalized polymicrogyria (BGP) - A distinct syndrome of cortical malformation ' , Neurology , vol. 62 , no. 10 , pp. 1722-1728 .

مصطلحات موضوعية: FRONTOPARIETAL POLYMICROGYRIA, PERISYLVIAN POLYMICROGYRIA, FEATURES, MAPS, MRI

Relation: https://research.rug.nl/en/publications/8816e8b5-26c7-4ff8-b383-c0cc6810fa58

الاتاحة: https://hdl.handle.net/11370/8816e8b5-26c7-4ff8-b383-c0cc6810fa58
https://research.rug.nl/en/publications/8816e8b5-26c7-4ff8-b383-c0cc6810fa58

المؤلفون: Walsh, CA, Grant, PE, Barkovich, AJ, Leventer, RJ, Bodell, A, Tezcan, K, Topcu, M, Woods, CG, Scheffer, I, Cascino, GD, Giannini, C, Piao, X, Chang, BS

الاتاحة: https://doi.org/10.1212/01.wnl.0000125187.52952.e9
https://avesis.hacettepe.edu.tr/publication/details/6f306844-ddf3-4f5b-91f6-db40fb40075a/oai

المؤلفون: Sharbrough Fw, Cascino Gd

المصدر: Mayo Clinic Proceedings. 71:403-404

مصطلحات موضوعية: Epilepsy, business.industry, Library science, Medicine, General Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe2026213725ba5fe4136193e3a239d5
https://doi.org/10.4065/71.4.403