المؤلفون: Picketts, D, Mirzaa, G, Yan, K, Relator, R, Timpano, S, Yalcin, B, Collins, S, Ziegler, A, Pao, E, Oyama, N, Brischoux-Boucher, E, Piard, J, Monaghan, K, Sacoto, MG, Dobyns, W, Park, K, Fernández-Mayoralas, D, Fernández-Jaén, A, Jayakar, P, Brusco, A, Antona, V, Giorgio, E, Kvarnung, M, Isidor, B, Conrad, S, Cogné, B, Deb, W, Stuurman, KE, Sterbova, K, Smal, N, Weckhuysen, S, Oegema, R, Innes, M, Latsko, M, Ben-Omran, T, Yeh, R, Kruer, M, Bakhtiari, S, Papavasiliou, A, Moutton, S, Nambot, S, Chanprasert, S, Paolucci, S, Miller, K, Burton, B, Kim, K, O'Heir, E, Bruwer, Z, Donald, K, Kleefstra, T, Goldstein, A, Angle, B, Bontempo, K, Miny, P, Joset, P, Demurger, F, Hobson, E, Pang, L, Carpenter, L, Li, D, Bonneau, D, Sadikovic, B

المصدر: Research square.

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:237841849

المؤلفون: Yanes‐Roca, C., Štěrbová, K., Mráz, J., Veselý, L., Malinovskyi, O., Pěnka, T., Masojídek, J., Policar, T.

المساهمون: Ministerstvo Zemědělství, Interreg

المصدر: Journal of the World Aquaculture Society ; volume 55, issue 2 ; ISSN 0893-8849 1749-7345

الاتاحة: http://dx.doi.org/10.1111/jwas.13059
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jwas.13059

المؤلفون: Montanucci L., Lewis-Smith D., Collins R. L., Niestroj L. -M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R. H., Talkowski M., Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Goldstein D. B., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Berkovic S. F., Lerche H., Lowenstein D. H., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leech S. L., Leu C., O'Brien T. J., Todaro M., Stamberger H., Depondti C., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E., Kunz W. S., Zsurka G., Surges R., Baumgartner T. H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R. H. W., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Lino N., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry-Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Newton C. R. J. C., Kariuki S. M., Wagner R. G., Owusu-Agyei S., Cole A. J., McGraw C. M., Siena S. A., Davis L., Hucks D., Faucon A., Wu D., Abou-Khalil B. W., Haas K., Taneja R. S., Epi25 Collaborative

المساهمون: Montanucci L., Lewis-Smith D., Collins R.L., Niestroj L.-M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R.H., Talkowski M., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Goldstein D.B., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Berkovic S.F., Lerche H., Lowenstein D.H., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leech S.L., Leu C., O'Brien T.J., Todaro M., Stamberger H., Depondti C., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E., Kunz W.S., Zsurka G., Surges R., Baumgartner T.H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S.

مصطلحات موضوعية: copy number variant, seizure, genome wide

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37474567; info:eu-repo/semantics/altIdentifier/wos/WOS:001040020600007; volume:14; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/957673; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6

الاتاحة: https://hdl.handle.net/11585/957673
https://doi.org/10.1038/s41467-023-39539-6
https://www.nature.com/articles/s41467-023-39539-6

المؤلفون: Montanucci, L, Lewis-Smith, D, Collins, RL, Niestroj, LM, Parthasarathy, S, Xian, J, Ganesan, S, Macnee, M, Brünger, T, Thomas, RH, Talkowski, M, Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Goldstein, DB, Feng, YCA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Berkovic, SF, Lerche, H, Lowenstein, DH, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leech, SL, Leu, C, O’Brien, TJ, Todaro, M, Stamberger, H, Depondti, C, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Yiolanda, C, Šterbová, K, Vlcková, M, Sedlácková, L, Laššuthová, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, E, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, TH, Von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, Van Baalen, A, Von Spiczak, S

المصدر: Nature Communications , 14 , Article 4392. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10177097/1/s41467-023-39539-6.pdf; https://discovery.ucl.ac.uk/id/eprint/10177097/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10177097/1/s41467-023-39539-6.pdf
https://discovery.ucl.ac.uk/id/eprint/10177097/

المؤلفون: Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB

المصدر: American Journal of Human Genetics , 108 (6) pp. 965-982. (2021)

مصطلحات موضوعية: Epilepsy, epileptic encephalopathy, seizures, whole-exome sequencing, focal epilepsy, generalized epilepsy, intolerance, ClinVar, Epi25, Louvain

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf; https://discovery.ucl.ac.uk/id/eprint/10131811/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf
https://discovery.ucl.ac.uk/id/eprint/10131811/

المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., Dorn T., Guerrini R., Hoffman-Zacharska D., Kooy F., Lagae L., Lench N., Lemke J. R., Lucenteforte E., Madia F., Mefford H. C., Morrogh D., Nuernberg P., Palotie A., Schoonjans A. -S., Striano P., Szczepanik E., Tostevin A., Vermeesch J. R., Van Esch H., Van Paesschen W., Waters J. J., Weckhuysen S., Zara F., Jonghe P. D., Sisodiya S. M., Marini C., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.

المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array

Relation: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575

الاتاحة: http://hdl.handle.net/11568/996341
https://doi.org/10.1111/epi.14683
https://onlinelibrary.wiley.com/doi/full/10.1111/epi.14683

المؤلفون: Siekierska A., Stamberger H., Deconinck T., Oprescu S. N., Partoens M., Zhang Y., Sourbron J., Adriaenssens E., Mullen P., Wiencek P., Hardies K., Lee J. -S., Giong H. -K., Distelmaier F., Elpeleg O., Helbig K. L., Hersh J., Isikay S., Jordan E., Karaca E., Kecskes A., Lupski J. R., Kovacs-Nagy R., May P., Narayanan V., Pendziwiat M., Ramsey K., Rangasamy S., Shinde D. N., Spiegel R., Timmerman V., von Spiczak S., Helbig I., Balak C., Belnap N., Claasen A., Courtright A., de Both M., Huentelman M. J., Naymik M., Richholt R., Siniard A. L., Szelinger S., Craig D. W., Schrauwen I., Afawi Z., Balling R., Baulac S., Barisic N., Caglayan H. S., Craiu D., Guerrero-Lopez R., Guerrini R., Hjalgrim H., Jahn J., Klein K. M., Leguern E., Lemke J. R., Lerche H., Marini C., Moller R. S., Muhle H., Rosenow F., Serratosa J., Suls A., Stephani U., Sterbova K., Striano P., Zara F., Weckhuysen S., Francklyn C., Antonellis A., de Witte P., De Jonghe P.

المساهمون: Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S. N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J. -S., Giong, H. -K., Distelmaier, F., Elpeleg, O., Helbig, K. L., Hersh, J., Isikay, S., Jordan, E., Karaca, E., Kecskes, A., Lupski, J. R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D. N., Spiegel, R., Timmerman, V., von Spiczak, S., Helbig, I., Balak, C., Belnap, N., Claasen, A., Courtright, A., de Both, M., Huentelman, M. J., Naymik, M., Richholt, R., Siniard, A. L., Szelinger, S., Craig, D. W., Schrauwen, I., Afawi, Z., Balling, R., Baulac, S., Barisic, N., Caglayan, H. S., Craiu, D., Guerrero-Lopez, R., Guerrini, R., Hjalgrim, H., Jahn, J., Klein, K. M., Leguern, E., Lemke, J. R., Lerche, H., Marini, C., Moller, R. S., Muhle, H., Rosenow, F., Serratosa, J., Suls, A., Stephani, U., Sterbova, K., Striano, P., Zara, F., Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P., De Jonghe, P.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000458398900002; volume:10 Article number: 708 (2019); firstpage:708; lastpage:708; numberofpages:1; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1021920; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061489358

الاتاحة: http://hdl.handle.net/11567/1021920
https://doi.org/10.1038/s41467-018-07953-w

المؤلفون: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Vincenzo Salpietro, Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.

المساهمون: Leu, C., Stevelink, R., Smith, A. W., Goleva, S. B., Kanai, M., Ferguson, L., Campbell, C., Kamatani, Y., Okada, Y., Sisodiya, S. M., Cavalleri, G. L., Koeleman, B. P. C., Lerche, H., Jehi, L., Davis, L. K., Najm, I. M., Palotie, A., Daly, M. J., Busch, R. M., Lal, D., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Churchhouse, C., Gupta, N., Neale, B. M., Berkovic, S. F., Goldstein, D. B., Lowenstein, D. H., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bellows, S. T., Bennett, C. A., Johns, E. M. C., Macdonald, A., Shilling, H., Burgess, R., Weckhuysen, D., Bahlo, M., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Sadoway, T. R., Mo, K., Krestel, H., Gallati, S., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Kunz, W. S., Zsurka, G., Elger, C. E., Bauer, J., Rademacher, M., Pendziwiat, M., Muhle, H., Rademacher, A., Van Baalen, A., Von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M.

مصطلحات موضوعية: Common variant risk, Epilepsy, Genetic generalized epilepsy, Genetic, Cohort Studie, Cost of Illne, Databases, Factual, Epilepsies, Partial, Generalized, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31608925; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200026; volume:142; firstpage:3473; lastpage:3481; numberofpages:9; journal:BRAIN; http://hdl.handle.net/11567/1028583; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074309721

الاتاحة: http://hdl.handle.net/11567/1028583
https://doi.org/10.1093/brain/awz292

المؤلفون: Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Singh, T, Heyne, H, Byrnes, A, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Heinzen, EL, Dhindsa, RS, Stanley, KE, Cavalleri, GL, Hakonarson, H, Helbig, I, Krause, R, May, P, Weckhuysen, S, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Kwan, P, Marson, AG, Stewart, R, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, McKenna, K, Regan, BM, Bellows, ST, Leu, C, Bennett, CA, Johns, EMC, Macdonald, A, Shilling, H, Burgess, R, Weckhuysen, D, Bahlo, M, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Sadoway, TR, Mo, K, Krestel, H, Gallati, S, Papacostas, SS, Kousiappa, I, Tanteles, GA, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Kunz, WS, Zsurka, G, Elger, CE, Bauer, J, Rademacher, M, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Mueller-Schlueter, K, Kluger, G, Hausler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Hengsbach, C, Rau, S, Maisch, AF, Steinhoff, BJ, Schulze-Bonhage, A, Schubert-Bast, S, Schreiber, H, Borggrafe, I, Schankin, CJ, Mayer, T, Korinthenberg, R, Brockmann, K, Dennig, D, Madeleyn, R, Kalviainen, R, Auvinen, P, Saarela, A, Linnankivi, T, Lehesjoki, A-E, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Barisic, N, Delanty, N, Doherty, CP, Shukralla, A, McCormack, M, El-Naggar, H, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Zara, F, Iacomino, M, Madia, F, Vari, MS, Mancardi, MM, Salpietro, V, Bisulli, F, Tinuper, P, Licchetta, L, Pippucci, T, Stipa, C, Minardi, R, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Marini, C, Suzuki, T, Inoue, Y, Yamakawa, K, Tumiene, B, Sadleir, LG, King, C, Mountier, E, Caglayan, SH, Arslan, M, Yapici, Z, Yis, U, Topaloglu, P, Kara, B, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Ugur-Iseri, S, Baykan, B, Salman, B, Haryanyan, G, Yucesan, E, Kesim, Y, Ozkara, C, Poduri, A, Shiedley, BR, Shain, C, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Khankhanian, P, Helbig, KL, Ellis, CA, Spalletta, G, Piras, F, Gili, T, Ciullo, V, Reif, A, McQuillin, A, Bass, N, McIntosh, A, Blackwood, D, Johnstone, M, Palotie, A, Pato, MT, Pato, CN, Bromet, EJ, Carvalho, CB, Achtyes, ED, Azevedo, MH, Kotov, R, Lehrer, DS, Malaspina, D, Marder, SR, Medeiros, H, Morley, CP, Perkins, DO, Sobell, JL, Buckley, PF, Macciardi, F, Rapaport, MH, Knowles, JA, Fanous, AH, McCarroll, SA, Gupta, N, Gabriel, SB, Daly, MJ, Lander, ES, Lowenstein, DH, Goldstein, DB, Lerche, H, Berkovic, SF, Neale, BM

المصدر: American Journal of Human Genetics , 105 (2) pp. 267-282. (2019)

مصطلحات موضوعية: epilepsy, seizures, epileptic encephalopathy, exome, sequencing, burden analysis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10081126/1/Sisodiya_AAM_FINAL_PROOF_EPI25_WES_ms_text.pdf; https://discovery.ucl.ac.uk/id/eprint/10081126/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10081126/1/Sisodiya_AAM_FINAL_PROOF_EPI25_WES_ms_text.pdf
https://discovery.ucl.ac.uk/id/eprint/10081126/

المؤلفون: Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, CA, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, TB, Møller, RS, Shinde, DN, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, KL, Haucke, V, Weber, YG, EuroEPINOMICS-RES Consortium, GRIN Consortium

المصدر: American Journal of Human Genetics , 104 (6) pp. 1060-1072. (2019)

مصطلحات موضوعية: Human Phenotype Ontology, clathrin-mediated endocytosis, computational phenotypes, developmental and epileptic encephalopathy, neurodevelopmental disorders, synaptic transmission

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf; https://discovery.ucl.ac.uk/id/eprint/10076749/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf
https://discovery.ucl.ac.uk/id/eprint/10076749/

المؤلفون: Happ, H. C., Sadleir, L. G., Zemel, M., De Valles-Ibáñez, G., Hildebrand, M. S., Mcconkie-Rosell, A., Mcdonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., Linhares, N. D., Burton, B. K., Paras, A., Ellard, S., Rankin, J., Shukla, A., Majethia, P., Olson, R. J., Muthusamy, K., Schimmenti, L. A., Starnes, K., Sedláčková, L., Štěrbová, K., Vlčková, M., Laššuthová, P., Jahodová, A., Porter, B. E., Couque, N., Colin, E., Prouteau, C., Collet, C., Smol, Thomas, Caumes, R., Vansenne, F., Bisulli, F., Licchetta, L., Person, R., Torti, E., Mcwalter, K., Webster, R., Gerard, E. E., Lesca, G., Szepetowski, P., Scheffer, I. E., Mefford, H. C., Carvill, G. L.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Relation: Neurology; http://hdl.handle.net/20.500.12210/114503

الاتاحة: https://hdl.handle.net/20.500.12210/114503

المؤلفون: Happ, HC, Sadleir, LG, Zemel, M, de Valles-Ibáñez, G, Hildebrand, MS, McConkie-Rosell, A, McDonald, M, May, H, Sands, T, Aggarwal, V, Elder, C, Feyma, T, Bayat, A, Møller, RS, Fenger, CD, Klint Nielsen, JE, Datta, AN, Gorman, KM, King, MD, Linhares, ND, Burton, BK, Paras, A, Ellard, S, Rankin, J, Shukla, A, Majethia, P, Olson, RJ, Muthusamy, K, Schimmenti, LA, Starnes, K, Sedláčková, L, Štěrbová, K, Vlčková, M, Laššuthová, P, Jahodová, A, Porter, BE, Couque, N, Colin, E, Prouteau, C, Collet, C, Smol, T, Caumes, R, Vansenne, F, Bisulli, F, Licchetta, L, Person, R, Torti, E, McWalter, K, Webster, R, Gerard, EE, Lesca, G, Szepetowski, P, Scheffer, IE, Mefford, HC, Carvill, GL

Relation: pii: WNL.0000000000201492; Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D. ,. Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100 (6), pp.e603-e615. https://doi.org/10.1212/WNL.0000000000201492.; http://hdl.handle.net/11343/339796

الاتاحة: http://hdl.handle.net/11343/339796

المؤلفون: Manivannan S. N., Roovers J., Smal N., Myers C. T., Turkdogan D., Roelens F., Kanca O., Chung H. L., Scholz T., Hermann K., Bierhals T., Caglayan H. S., Stamberger H., Craiu D., Davila C., Helbig I., Guerrini R., Lehesjoki A. E., Marini C., Muhle H., Møller R. S., Neubauer B., Pal D., Sterbova K., Striano P., Talvik T., Von Spiczak S., Weber Y., Hoffman-Zacharska D., Mefford H., De Jonghe P., Yamamoto S., Weckhuysen S., Bellen H. J.

المساهمون: Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H. L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., Craiu, D., Davila, C., Helbig, I., Guerrini, R., Lehesjoki, A. E., Marini, C., Muhle, H., Møller, R. S., Neubauer, B., Pal, D., Sterbova, K., Striano, P., Talvik, T., Von Spiczak, S., Weber, Y., Hoffman-Zacharska, D., Mefford, H., De Jonghe, P., Yamamoto, S., Weckhuysen, S., Bellen, H. J.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000788202600001; volume:145; firstpage:1684; lastpage:1697; numberofpages:14; journal:BRAIN; https://hdl.handle.net/11567/1142057; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126802575

الاتاحة: https://hdl.handle.net/11567/1142057
https://doi.org/10.1093/brain/awab409

المؤلفون: Reijnders, MRF, Janowski, R, Alvi, M, Self, JE, van Essen, TJ, Vreeburg, M, Rouhl, RPW, Stevens, SJC, Stegmann, APA, Schieving, J, Pfundt, R, van Dijk, K, Smeets, E, Stumpel, CTRM, Bok, LA, Cobben, JM, Engelen, M, Mansour, S, Whiteford, M, Chandler, KE, Douzgou, S, Cooper, NS, Tan, E-C, Foo, R, Lai, AHM, Rankin, J, Green, A, Loennqvist, T, Isohanni, P, Williams, S, Ruhoy, I, Carvalho, KS, Dowling, JJ, Lev, DL, Sterbova, K, Lassuthova, P, Neupauerova, J, Waugh, JL, Keros, S, Clayton-Smith, J, Smithson, SF, Brunner, HG, van Hoeckel, C, Anderson, M, Clowes, VE, Siu, VM, Selber, P, Leventer, RJ, Nellaker, C, Niessing, D, Hunt, D, Baralle, D

Relation: pii: jmedgenet-2017-104946; Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., van Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M. ,. Baralle, D. (2018). PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. JOURNAL OF MEDICAL GENETICS, 55 (2), pp.104-113. https://doi.org/10.1136/jmedgenet-2017-104946.; http://hdl.handle.net/11343/257497

الاتاحة: http://hdl.handle.net/11343/257497

المؤلفون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, HS, Craiu, DC, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, KM, Komarek, V, LeGuern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, SM, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, YG, Koeleman, BPC.

المساهمون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, Dc, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, Km, Komarek, V, Leguern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, Jm, Sisodiya, Sm, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, Yg, Koeleman, Bpc.

مصطلحات موضوعية: De novo, HNRNPU, X‐linked, epileptic encephalopathy, loss‐of‐function, prioritization, recessive, targeted panel sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27652284; info:eu-repo/semantics/altIdentifier/wos/WOS:000394450500010; volume:4; firstpage:568; lastpage:580; numberofpages:13; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11567/854821; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015718168

الاتاحة: http://hdl.handle.net/11567/854821
https://doi.org/10.1002/mgg3.235

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: Reijnders, M.R., Janowski, R., Alvi, M., Self, J.E., van Essen, T.J., Vreeburg, M., Rouhl, R.P.W., Stevens, S.J.C., Stegmann, A.P.A., Schieving, J., Pfundt, R., van Dijk, K.D., Smeets, E.E., Stumpel, C.T.R.M., Bok, L.A., Cobben, J.M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K.E., Douzgou, S., Cooper, N.S., Tan, E.C., Foo, R., Lai, A.H.M., Rankin, J., Green, A.R., Lönnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K.S., Dowling, J.J., Lev, D.L., Sterbova, K., Lassuthova, P., Neupauerová, J., Waugh, J.L., Keros, S., Clayton-Smith, J., Smithson, S.F., Brunner, H.G., van Hoeckel, C., Anderson, M.D., Clowes, V.E., Siu, V.M., Ddd Study, T., Selber, P., Leventer, R.J., Nellaker, C., Niessing, D., Hunt, D.T.E., Baralle, D.

المصدر: J. Med. Genet. 55, 104-113 (2017)

مصطلحات موضوعية: Pura Syndrome, Epilepsy And Seizures, Hypotonia, Intellectual Disability, Neonatal Problems

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/29097605; info:eu-repo/semantics/altIdentifier/wos/WOS:000423230800006; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semant; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52268; urn:isbn:0022-2593; urn:issn:0022-2593; urn:issn:1468-6244

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52268
https://doi.org/10.1136/jmedgenet-2017-104946

المؤلفون: Stamberger, H., Nikanorova, M., Willemsen, M., Fjaer, R., Ramsey, K., Viri, M., Sterbova, K., Wolf, M., Verhelst, H., Benkel, I., Fannemel, M., Muhle, H., Casara, G., Van Coster, R., Angriman, M., Lederer, D., De Jonghe, P., Striano, P., Lemke, J., Moller, R. S., Weckhuysen, S.

المصدر: Stamberger , H , Nikanorova , M , Willemsen , M , Fjaer , R , Ramsey , K , Viri , M , Sterbova , K , Wolf , M , Verhelst , H , Benkel , I , Fannemel , M , Muhle , H , Casara , G , Van Coster , R , Angriman , M , Lederer , D , De Jonghe , P , Striano , P , Lemke , J , Moller , R S & Weckhuysen , S 2015 , ' Stxbp1 : Clinical and Genetic Description of 39 New Patients ....

Relation: https://portal.findresearcher.sdu.dk/da/publications/4d281f0a-634d-4112-b6d1-e837180c18d8

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/4d281f0a-634d-4112-b6d1-e837180c18d8
https://doi.org/10.1111/epi.13241

المؤلفون: Johannesen, K.M., Liu, Y., Koko, M., Gjerulfsen, C.E., Sonnenberg, L., Schubert, J., Fenger, C.D., Eltokhi, A., Rannap, M., Koch, N.A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., Sterbova, K., Lassuthová, P., Vlckova, M., Lemke, J.R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K.M., Au, PYB, Rho, J.M., Ho, A.W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C.E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J.S., Braakman, HMH, van der Zwaag, B., Harder, AVE, Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Le, N.M., Christensen, J., Grønborg, S., Scherer, S.W., Howe, J., Fazeli, W., Howell, K.B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C.M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M.M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M.S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K.E., Eisenhauer, N., Wagner, M., Savatt, J.M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M.C., Destrée, A., Schoonjans, A.S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W.H., Olson, H.E., Loddenkemper, T., Poduri, A., Helbig, K.L., Helbig, I., Fitzgerald, M.P., Goldberg, E.M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H.O., Lesca, G., Hedrich, UBS, Benda, J., Gardella, E., Lerche, H., Møller, R.S.

المصدر: Brain, vol. 145, no. 9, pp. 2991-3009

مصطلحات موضوعية: Epilepsy, Generalized/drug therapy, Generalized/genetics, Epileptic Syndromes/drug therapy, Epileptic Syndromes/genetics, Genetic Association Studies, Humans, Infant, Intellectual Disability/genetics, Mutation, NAV1.6 Voltage-Gated Sodium Channel/genetics, Prognosis, Seizures/drug therapy, Seizures/genetics, Sodium Channel Blockers/therapeutic use, SCN8A, genetics, personalized medicine

Relation: info:eu-repo/semantics/altIdentifier/pmid/34431999; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; https://serval.unil.ch/notice/serval:BIB_08E33EDD42EE

الاتاحة: https://serval.unil.ch/notice/serval:BIB_08E33EDD42EE
https://doi.org/10.1093/brain/awab321

المؤلفون: Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leu C., Leech S. L., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E. M., Kunz W. S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S. F., Lerche H., Lowenstein D. H., Goldstein D. B.

المساهمون: Motelow, J. E., Povysil, G., Dhindsa, R. S., Stanley, K. E., Allen, A. S., Feng, Y. -C. A., Howrigan, D. P., Abbott, L. E., Tashman, K., Cerrato, F., Cusick, C., Singh, T., Heyne, H., Byrnes, A. E., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Gupta, N., Neale, B. M., Cavalleri, G. L., Cossette, P., Cotsapas, C., De Jonghe, P., Dixon-Salazar, T., Guerrini, R., Hakonarson, H., Heinzen, E. L., Helbig, I., Kwan, P., Marson, A. G., Petrovski, S., Kamalakaran, S., Sisodiya, S. M., Stewart, R., Weckhuysen, S., Depondt, C., Dlugos, D. J., Scheffer, I. E., Striano, P., Freyer, C., Krause, R., May, P., Mckenna, K., Regan, B. M., Bennett, C. A., Leu, C., Leech, S. L., O'Brien, T. J., Todaro, M., Stamberger, H., Andrade, D. M., Ali, Q. Z., Sadoway, T. R., Krestel, H., Schaller, A., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Christou, Y., Sterbova, K., Vlckova, M., Sedlackova, L., Lassuthova, P., Klein, K. M., Rosenow, F., Reif, P. S., Knake, S., Neubauer, B. A., Zimprich, F., Feucht, M., Reinthaler, E. M., Kunz, W. S., Zsurka, G., Surges, R., Baumgartner, T., von Wrede, R., Pendziwiat, M., Muhle, H., Rademacher, A., van Baalen, A., von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Kanaan, M., Canavati, C., Kurlemann, G., Muller-Schluter, K., Kluger, G., Hausler, M., Blatt, I., Lemke, J. R., Krey, I., Weber, Y. G., Wolking, S., Becker, F., Lauxmann, S., Bosselmann, C., Kegele, J.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000705304300016; volume:108; issue:10; firstpage:2024; lastpage:2024; numberofpages:1; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3231520; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116916069

الاتاحة: http://hdl.handle.net/11570/3231520
https://doi.org/10.1016/j.ajhg.2021.08.008