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: 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: 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: Stevelink, R, Al-Toma, D, Jansen, FE, Lamberink, HJ, Asadi-Pooya, AA, Farazdaghi, M, Cacao, G, Jayalakshmi, S, Patil, A, Ozkara, C, Aydin, S, Gesche, J, Beier, CP, Stephen, LJ, Brodie, MJ, Unnithan, G, Radhakrishnan, A, Hofler, J, Trinka, E, Krause, R, Irelli, EC, Di Bonaventura, C, Szaflarski, JP, Hernandez-Vanegas, LE, Moya-Alfaro, ML, Zhang, Y, Zhou, D, Pietrafusa, N, Specchio, N, Japaridze, G, Beniczky, S, Janmohamed, M, Kwan, P, Syvertsen, M, Selmer, KK, Vorderwulbecke, BJ, Holtkamp, M, Viswanathan, LG, Sinha, S, Baykan, B, Altindag, E, von Podewils, F, Schulz, J, Seneviratne, U, Viloria-Alebesque, A, Karakis, I, D'Souza, WJ, Sander, JW, Koeleman, BPC, Otte, WM, Braun, KPJ

Relation: pii: S2589-5370(22)00462-X; Stevelink, R., Al-Toma, D., Jansen, F. E., Lamberink, H. J., Asadi-Pooya, A. A., Farazdaghi, M., Cacao, G., Jayalakshmi, S., Patil, A., Ozkara, C., Aydin, S., Gesche, J., Beier, C. P., Stephen, L. J., Brodie, M. J., Unnithan, G., Radhakrishnan, A., Hofler, J., Trinka, E. ,. Braun, K. P. J. (2022). Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis. ECLINICALMEDICINE, 53, https://doi.org/10.1016/j.eclinm.2022.101732.; http://hdl.handle.net/11343/335401

الاتاحة: http://hdl.handle.net/11343/335401

المؤلفون: Okudan ZV, Özkara C

المصدر: Neuropsychiatric Disease and Treatment, Vol Volume 14, Pp 327-337 (2018)

مصطلحات موضوعية: seizure, reflex epilepsy, photosensitivity, hot water, reading, thinking., Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.dovepress.com/reflex-epilepsy-triggers-and-management-strategies-peer-reviewed-article-NDT; https://doaj.org/toc/1178-2021

URL الوصول: https://doaj.org/article/3c1be07746c446aba5d3d7551ac16d03

المؤلفون: Unkun R., Kizilkilic E.K., Delil S., Kemerdere R., Ozkara C.

مصطلحات موضوعية: bilirubin, folic acid, lactate dehydrogenase, levetiracetam, anticonvulsive agent, piracetam, adult, bilirubin blood level, blood cell count, blood smear, brain metastasis, case report, clinical article, coronary artery disease, erythrocyte count, follow up, human, lactate dehydrogenase blood level, letter, leukocyte count, male, middle aged, nuclear magnetic resonance imaging, pancytopenia, platelet count, seizure, small cell lung cancer, Anticonvulsants, Humans

Relation: Acta Neurologica Belgica; Diğer; https://doi.org/10.1007/s13760-022-02138-1; https://hdl.handle.net/20.500.12831/19519; 123; 1625; 1626; 2-s2.0-85141521383

الاتاحة: https://doi.org/10.1007/s13760-022-02138-1
https://hdl.handle.net/20.500.12831/19519

المؤلفون: Uygun, O., Suzgun, M. Aktan, Turk, B., Delil, M., Isler, C., Uzan, M., Ozkara, C.

Relation: European Journal of Neurology; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12831/19353; 30; 627; WOS:001058307002159

الاتاحة: https://hdl.handle.net/20.500.12831/19353

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: Berkovic, SF, Oliver, KL, Canafoglia, L, Krieger, P, Damiano, JA, Hildebrand, MS, Morbin, M, Vears, DF, Sofia, V, Giuliano, L, Garavaglia, B, Simonati, A, Santorelli, FM, Gambardella, A, Labate, A, Belcastro, V, Castellotti, B, Ozkara, C, Zeman, A, Rankin, J, Mole, SE, Aguglia, U, Farrell, M, Rajagopalan, S, McDougall, A, Brammah, S, Andermann, F, Andermann, E, Dahl, H-HM, Franceschetti, S, Carpenter, S

المصدر: Brain , 142 (1) pp. 59-69. (2019)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis, neurodegeneration, Kufs disease, CLN6, ataxia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10065088/1/Berkovic%20et%20al_Brain_editorial-rev%20submitted.pdf; https://discovery.ucl.ac.uk/id/eprint/10065088/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10065088/1/Berkovic%20et%20al_Brain_editorial-rev%20submitted.pdf
https://discovery.ucl.ac.uk/id/eprint/10065088/

المؤلفون: 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., Bartolomei F., Bast T., Baum L., Baumgartner T., Baykan B., Bebek N., Becker A. J., Becker F., Bennett C. A., Berghuis B., Berkovic S. F., Beydoun A., Bianchini C., Bisulli F., Blatt I., Bobbili D. R., Borggraefe I., Bosselmann C., Braatz V., Bradfield J. P., Brockmann K., Brody L. C., Buono R. J., Busch R. M., Caglayan H., Campbell E., Canafoglia L., Canavati C., Cascino G. D., Castellotti B., Catarino C. B., Cavalleri G. L., Cerrato F., Chassoux F., Cherny S. S., Cheung C. -L., Chinthapalli K., Chou I. -J., Chung S. -K., Churchhouse C., Clark P. O., Cole A. J., Compston A., Coppola A., Cosico M., Cossette P., Craig J. J., Cusick C., Daly M. J., Davis L. K., de Haan G. -J., Delanty N., Depondt C., Derambure P., Devinsky O., Di Vito L., Dlugos D. J., Doccini V., Doherty C. P., El-Naggar H., Elger C. E., Ellis C. A., Eriksson J. G., Faucon A., Feng Y. -C. A., Ferguson L., Ferraro T. N., Ferri L., Feucht M., Fitzgerald M., Fonferko-Shadrach B., Fortunato F., Franceschetti S., Franke A., French J. A., Freri E., Gagliardi M., Gambardella A., Geller E. B., Giangregorio T., Gjerstad L., Glauser T., Goldberg E., Goldman A., Granata T., Greenberg D. A., Guerrini R., Gupta N., Haas K. F., Hakonarson H., Hallmann K., Hassanin E., Hegde M., Heinzen E. L., Helbig I., Hengsbach C., Heyne H. O., Hirose S., Hirsch E., Hjalgrim H., Howrigan D. P., Hucks D., Hung P. -C., Iacomino M., Imbach L. L., Inoue Y., Ishii A., Jamnadas-Khoda J., Jehi L., Johnson M. R., Kalviainen R., Kamatani Y., Kanaan M., Kanai M., Kantanen A. -M., Kara B., Kariuki S. M., Kasperaviciute D., Kasteleijn-Nolst Trenite D., Kato M., Kegele J., Kesim Y., Khoueiry-Zgheib N., King C., Kirsch H. E., Klein K. M., Kluger G., Knake S., Knowlton R. C., Koeleman B. P. C., Korczyn A. D., Koupparis A., Kousiappa I., Krause R., Krenn M., Krestel H., Krey I., Kunz W. S., Kurki M. I., Kurlemann G., Kuzniecky R., Kwan P., Labate A., Lacey A., Lal D., Landoulsi Z., Lau Y. -L., Lauxmann S., Leech S. L., Lehesjoki A. -E., Lemke J. R., Lerche H., Lesca G., Leu C., Lewin N., Lewis-Smith D., Li G. H. -Y., Li Q. S., Licchetta L., Lin K. -L., Lindhout D., Linnankivi T., Lopes-Cendes I., Lowenstein D. H., Lui C. H. T., Madia F., Magnusson S., Marson A. G., May P., McGraw C. M., Mei D., Mills J. L., Minardi R., Mirza N., Moller R. S., Molloy A. M., Montomoli M., Mostacci B., Muccioli L., Muhle H., Muller-Schluter K., Najm I. M., Nasreddine W., Neale B. M., Neubauer B., Newton C. R. J. C., Nothen M. M., Nothnagel M., Nurnberg P., O'Brien T. J., Okada Y., Olafsson E., Oliver K. L., Ozkara C., Palotie A., Pangilinan F., Papacostas S. S., Parrini E., Pato C. N., Pato M. T., Pendziwiat M., Petrovski S., Pickrell W. O., Pinsky R., Pippucci T., Poduri A., Pondrelli F., Powell R. H. W., Privitera M., Rademacher A., Radtke R., Ragona F., Rau S., Rees M. I., Regan B. M., Reif P. S., Rhelms S., Riva A., Rosenow F., Ryvlin P., Saarela A., Sadleir L. G., Sander J. W., Sander T., Scala M., Scattergood T., Schachter S. C., Schankin C. J., Scheffer I. E., Schmitz B., Schoch S., Schubert-Bast S., Schulze-Bonhage A., Scudieri P., Sham P., Sheidley B. R., Shih J. J., Sills G. J., Sisodiya S. M., Smith M. C., Smith P. E., Sonsma A. C. M., Speed D., Sperling M. R., Stefansson H., Stefansson K., Steinhoff B. J., Stephani U., Stewart W. C., Stipa C., Striano P., Stroink H., Strzelczyk A., Surges R., Suzuki T., Tan K. M., Taneja R. S., Tanteles G. A., Tauboll E., Thio L. L., Thomas G. N., Thomas R. H., 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 E. P. G., Visscher F., von Brauchitsch S., von Wrede R., Wagner R. G., Weber Y. G., 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.

المساهمون: 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., Bartolomei, F., Bast, T., Baum, L., Baumgartner, T., Baykan, B., Bebek, N., Becker, A. J., Becker, F., Bennett, C. A., Berghuis, B., Berkovic, S. F., Beydoun, A., Bianchini, C., Bisulli, F., Blatt, I., Bobbili, D. R., Borggraefe, I., Bosselmann, C., Braatz, V., Bradfield, J. P., Brockmann, K., Brody, L. C., Buono, R. J., Busch, R. M., Caglayan, H., Campbell, E., Canafoglia, L., Canavati, C., Cascino, G. D., Castellotti, B., Catarino, C. B., Cavalleri, G. L., Cerrato, F., Chassoux, F., Cherny, S. S., Cheung, C. -L., Chinthapalli, K., Chou, I. -J., Chung, S. -K., Churchhouse, C., Clark, P. O., Cole, A. J., Compston, A., Coppola, A., Cosico, M., Cossette, P., Craig, J. J., Cusick, C., Daly, M. J., Davis, L. K., de Haan, G. -J., Delanty, N., Depondt, C., Derambure, P., Devinsky, O., Di Vito, L., Dlugos, D. J., Doccini, V., Doherty, C. P., El-Naggar, H., Elger, C. E., Ellis, C. A., Eriksson, J. G., Faucon, A., Feng, Y. -C. A., Ferguson, L., Ferraro, T. N., Ferri, L., Feucht, M., Fitzgerald, M., Fonferko-Shadrach, B., Fortunato, F., Franceschetti, S., Franke, A., French, J. A., Freri, E., Gagliardi, M., Gambardella, A., Geller, E. B., Giangregorio, T., Gjerstad, L.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37653029; info:eu-repo/semantics/altIdentifier/wos/WOS:001169861400003; volume:55; firstpage:1471; lastpage:1482; numberofpages:12; journal:NATURE GENETICS; https://hdl.handle.net/11567/1142155; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169457451

الاتاحة: https://hdl.handle.net/11567/1142155
https://doi.org/10.1038/s41588-023-01485-w

المؤلفون: Tekeli, H., Yildiz, E. Pembegul, Bektas, G., Teber, S. Tiras, Ozkara, C., YILMAZ, Yasin, Turk, B. G., Ser, M. H., Sut, N. Yeniay, Sahin, S.

المساهمون: Istanbul Univ Hlth Sci Inst ,, 4059096

مصطلحات موضوعية: Tıp, KLİNİK NÖROLOJİ, Klinik Tıp, Klinik Tıp (MED), Dahili Tıp Bilimleri, Nöroloji, Sağlık Bilimleri, Nöroloji (klinik), Yaşam Bilimleri

Relation: EPILEPSIA; YILMAZ Y., Turk B. G., Ser M. H., Sut N. Y., Sahin S., Yildiz E. P., Bektas G., Teber S. T., Tekeli H., Ozkara C., "Seizure treatment with olfactory training: A preliminary trial", EPILEPSIA, cilt.63, ss.126-127, 2022; vv_1032021; av_10d7224a-16ca-4ebf-9b9a-c035ea763bbb; http://hdl.handle.net/20.500.12627/186229; 63; 126; 127

الاتاحة: https://hdl.handle.net/20.500.12627/186229

المؤلفون: Saricaoglu M., Hanoglu L., Guntekin B., Ozkara C.

مصطلحات موضوعية: agraphia, Multimodal rehabilitation, spontaneous electroencephalogram, touch agnosia, transcutaneous electrical nerve stimulation-electroencephalogram, adult, case report, cognition, electroencephalography, hand, human, neoplasm, parietal lobe, physiology, surgery, transcutaneous electrical nerve stimulation, young adult, Humans, Neoplasms, Transcutaneous Electric Nerve Stimulation

Relation: Physiotherapy Theory and Practice; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1080/09593985.2022.2064787; https://hdl.handle.net/20.500.12831/19647; 39; 10; 2241; 2250; 2-s2.0-85129330161

الاتاحة: https://doi.org/10.1080/09593985.2022.2064787
https://hdl.handle.net/20.500.12831/19647

المؤلفون: Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., TINUPER, PAOLO, LICCHETTA, LAURA, Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.

المساهمون: Muona, M., Berkovic, S.F., Dibbens, L.M., Oliver, K.L., Maljevic, S., Bayly, M.A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S.E., Hildebrand, M.S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I.E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M.D., Ozkara, C., Andrade, D.M., Engelsen, B.A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A.J., Kauffmann, B., Duchowny, M., Moller, R.S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K.E., Daly, M.J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A.-E.

مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animal, Base Sequence, Carrier Protein, Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Protein, Human, Male, Molecular Sequence Data, Myoclonic Epilepsies, Progressive, Pedigree, Prion, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channel, Species Specificity, Mutation, Missense, Point Mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25401298; info:eu-repo/semantics/altIdentifier/wos/WOS:000346990400009; volume:47; issue:1; firstpage:39; lastpage:46; numberofpages:8; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/201413 ,242167, 261433, 261123; http://hdl.handle.net/11585/515030; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843; https://www.nature.com/articles/ng.3144

الاتاحة: http://hdl.handle.net/11585/515030
https://doi.org/10.1038/ng.3144
https://www.nature.com/articles/ng.3144

المؤلفون: Blumcke, I, Spreafico, R, Haaker, G, Coras, R, Kobow, K, Bien, CG, Pfaefflin, M, Elger, C, Widman, G, Schramm, J, Becker, A, Braun, KP, Leijten, F, Baayen, JC, Aronica, E, Chassoux, F, Hamer, H, Stefan, H, Roessler, K, Thom, M, Walker, MC, Sisodiya, SM, Duncan, JS, McEvoy, AW, Pieper, T, Holthausen, H, Kudernatsch, M, Meencke, HJ, Kahane, P, Schulze-Bonhage, A, Zentner, J, Heiland, DH, Urbach, H, Steinhoff, BJ, Bast, T, Tassi, L, Lo Russo, G, Ozkara, C, Oz, B, Krsek, P, Vogelgesang, S, Runge, U, Lerche, H, Weber, Y, Honavar, M, Pimentel, J, Arzimanoglou, A, Ulate-Campos, A, Noachtar, S, Hartl, E, Schijns, O, Guerrini, R, Barba, C, Jacques, TS, Cross, JH, Feucht, M, Muehlebner, A, Grunwald, T, Trinka, E, Winkler, PA, Gil-Nagel, A, Delgado, RT, Mayer, T, Lutz, M, Zountsas, B, Garganis, K, Rosenow, F, Hermsen, A, von Oertzen, TJ, Diepgen, TL, Avanzini, G

المصدر: The New England Journal of Medicine , 377 (17) pp. 1648-1656. (2017)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1572849/1/Thom_nejmoa1703784.pdf; https://discovery.ucl.ac.uk/id/eprint/1572849/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1572849/1/Thom_nejmoa1703784.pdf
https://discovery.ucl.ac.uk/id/eprint/1572849/

المؤلفون: Lamberink H. J., Otte W. M., Blumcke I., Braun K. P. J., Aichholzer M., Amorim I., Aparicio J., Aronica E., Arzimanoglou A., Barba C., Beck J., Becker A., Beckervordersandforth J. C., Bien C. G., Bodi I., Braun K. P., Catenoix H., Chassoux F., Chipaux M., Cloppenborg T., Coras R., Cross J. H., De Palma L., De Tisi J., Deleo F., Devaux B., Di Gennaro G., Dorfmuller G., Duncan J. S., Elger C., Ernst K., Esposito V., Feucht M., Gadze Z. P., Garbelli R., Geleijns K., Gil-Nagel A., Grote A., Grunwald T., Guerrini R., Hamer H., Honavar M., Jacques T. S., Jakovcevic A., Jutila L., Kalina A., Kalviainen R., Klein K. M., Koenig K., Krsek P., Kudernatsch M., Kudr M., Malmgren K., Marusic P., Melikyan A., Menzler K., Noachtar S., Ozkara C., Pieper T., Pimentel J., Raicevic S., Rheims S., Ribeiro J., Rosenow F., Rossler K., Rydenhag B., Sales F., Antonio-Arce V. S., Schaller K. L., Schijns O., Scholl T., Schramm J., Schulze-Bonhage A., Sciot R., Seeck M., Shishkina L., Sokic D., Specchio N., Theys T., Thom M., Delgado R. T., Toulouse J., Uzan M., van Loon J., Van Paesschen W., von Oertzen T. J., Jansen F., Leijten F., van Rijen P., Spliet W. G., Muhlebner A., Kasper B. S., Fauser S., Polster T., Kalbhenn T., Delev D., McEvoy A., Miserocchi A., Landre E., Turak B., Varlet P., Ferrand-Sorbets S., Fohlen M., Bulteau C., Edelvik A., Shah M. J., Scheiwe C., Delicado E. G., Tisdall M., Eltze C., Akkol S., Deniz K., Oz B., Holthausen H., Hartlieb T., Staudt M., Casciato S., Quarato P. P., Giangaspero F., Streichenberger N., Guenot M., Isnard J., Valentijn A., Chang A., Mullatti N., Zamecnik J., Zarubova J., Tomasek M., Immonen A., Saarela A., Rauramaa T., Lobrinus J. A., Egervari K., Momjian S., Harti E., Lohr H., Kroell J., Vermeulen L., Cleeren E., Vlasov P., Kozlova A., Vorobyev A., Goeppel G., Samueli S., Czech T., Hainfellner J., Puttinger G., Schwarz G., Stefanits H., Weis S., Spreafico R., Villani F., Rossini L., Hermsen A., Knake S., Nimsky C., Carl B., Belohlavkova A., Benova B., Bisschop J., Colon A., van Kranen-Mastenbroek V., Rouhl R. P., Hoogland G., Rumia J., Ramirez-Camacho A., Candela-Canto S., Ostrowsky-Coste K., Panagiotakaki E., Montavont A., Kosal P. K., Gokce-Samar Z., Milleret C., Buccoliero A. M., Giordano F., Sulentic V., Mrak G., Desnica A., CarfiPavia G., De Benedictis A., Marras C. E., Bascarevic V., Vojvodic N., Ristic A., Rebelo O., Aledo-Serrano A., Garcia-Morales I., Anciones C.

المساهمون: Lamberink, H. J., Otte, W. M., Blumcke, I., Braun, K. P. J., Aichholzer, M., Amorim, I., Aparicio, J., Aronica, E., Arzimanoglou, A., Barba, C., Beck, J., Becker, A., Beckervordersandforth, J. C., Bien, C. G., Bodi, I., Braun, K. P., Catenoix, H., Chassoux, F., Chipaux, M., Cloppenborg, T., Coras, R., Cross, J. H., De Palma, L., De Tisi, J., Deleo, F., Devaux, B., Di Gennaro, G., Dorfmuller, G., Duncan, J. S., Elger, C., Ernst, K., Esposito, V., Feucht, M., Gadze, Z. P., Garbelli, R., Geleijns, K., Gil-Nagel, A., Grote, A., Grunwald, T., Guerrini, R., Hamer, H., Honavar, M., Jacques, T. S., Jakovcevic, A., Jutila, L., Kalina, A., Kalviainen, R., Klein, K. M., Koenig, K., Krsek, P., Kudernatsch, M., Kudr, M., Malmgren, K., Marusic, P., Melikyan, A., Menzler, K., Noachtar, S., Ozkara, C., Pieper, T., Pimentel, J., Raicevic, S., Rheims, S., Ribeiro, J., Rosenow, F., Rossler, K., Rydenhag, B., Sales, F., Antonio-Arce, V. S., Schaller, K. L., Schijns, O., Scholl, T., Schramm, J., Schulze-Bonhage, A., Sciot, R., Seeck, M., Shishkina, L., Sokic, D., Specchio, N., Theys, T., Thom, M., Delgado, R. T., Toulouse, J., Uzan, M., van Loon, J., Van Paesschen, W., von Oertzen, T. J., Jansen, F., Leijten, F., van Rijen, P., Spliet, W. G., Muhlebner, A., Kasper, B. S., Fauser, S., Polster, T., Kalbhenn, T., Delev, D., Mcevoy, A., Miserocchi, A., Landre, E., Turak, B.

مصطلحات موضوعية: Adolescent, Adult, Aged, Anticonvulsant, Child, Preschool, Cohort Studie, Drug Resistant Epilepsy, Female, Human, Infant, Longitudinal Studie, Male, Middle Aged, Retrospective Studie, Seizure, Treatment Outcome, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/32822635; info:eu-repo/semantics/altIdentifier/wos/WOS:000562556500017; volume:19; issue:9; firstpage:748; lastpage:757; numberofpages:10; journal:LANCET NEUROLOGY; http://hdl.handle.net/11573/1474790; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089818296

الاتاحة: http://hdl.handle.net/11573/1474790
https://doi.org/10.1016/S1474-4422(20)30220-9

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

المؤلفون: SOZULER, DT, OZKARA, C, USLU, I, ALTIOK, E, ONSEL, C

المساهمون: 115939

مصطلحات موضوعية: Dahili Tıp Bilimleri, Nöroloji, Tıp, Sağlık Bilimleri, Klinik Tıp (MED), Klinik Tıp, KLİNİK NEUROLOJİ

Relation: EPILEPSIA; SOZULER D., ONSEL C., OZKARA C., ALTIOK E., USLU I., "FLUCTUATIONS IN INTERICTAL REGIONAL CEREBRAL BLOOD-FLOW ABNORMALITIES IN CHILDREN WITH PARTIAL EPILEPSY", EPILEPSIA, cilt.36, 1995; vv_1032021; av_ff07bff5-13f9-4706-b3af-970e14770d4d; http://hdl.handle.net/20.500.12627/166743; 36

الاتاحة: https://hdl.handle.net/20.500.12627/166743

المؤلفون: THOM, M, LERCHE, H, WEBER, Y, HONAVAR, M, PIMENTEL, J, ARZIMANOGLOU, A, ULATE-CAMPOS, A, NOACHTAR, S, HARTL, E, SCHIJNS, O, GUERRINI, R, BARBA, C, JACQUES, TS, CROSS, JH, FEUCHT, M, MÜHLEBNER, A, GRUNWALD, T, TRINKA, E, OZKARA, C, Oz, Bülent, HAAKER, G, CORAS, R, KOBOW, K, BIEN, CG, PFÄFFLIN, M, ELGER, C, WIDMAN, G, SCHRAMM, J, BECKER, A, BRAUN, KP, LEIJTEN, F, BAAYEN, JC, ARONICA, E, CHASSOUX, F, HAMER, H, STEFAN, H, RÖSSLER, K, WALKER, MC, SISODIYA, SM, DUNCAN, JS, MCEVOY, AW, PIEPER, T, HOLTHAUSEN, H, AVANZINI, G, EEBB, Consortium., WINKLER, PA, GIL-NAGEL, A, Toledano, Delgado, MAYER, T, LUTZ, M, ZOUNTSAS, B, GARGANIS, K, ROSENOW, F, HERMSEN, A, von, Oertzen, DIEPGEN, TL, BLUMCKE, I, SPREAFICO, R, KUDERNATSCH, M, MEENCKE, HJ, KAHANE, P, SCHULZE-BONHAGE, A, ZENTNER, J, HEILAND, DH, URBACH, H, STEINHOFF, BJ, BAST, T, TASSI, L, Lo, Russo, KRSEK, P, VOGELGESANG, S, RUNGE, U

المساهمون: 158346

Relation: The New England journal of medicine; BLUMCKE I., SPREAFICO R., HAAKER G., CORAS R., KOBOW K., BIEN C., PFÄFFLIN M., ELGER C., WIDMAN G., SCHRAMM J., et al., "Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.", The New England journal of medicine, cilt.377, ss.1648-1656, 2017; vv_1032021; av_e1189d73-5ce4-4ffe-b53c-3315e868f69e; http://hdl.handle.net/20.500.12627/148218; https://doi.org/10.1056/nejmoa1703784; 377; 1648; 1656

الاتاحة: https://hdl.handle.net/20.500.12627/148218
https://doi.org/10.1056/nejmoa1703784

المؤلفون: Ertas, N, Ertas, M, Ozkara, C, Eskazan, E

المساهمون: 122521

مصطلحات موضوعية: Dahili Tıp Bilimleri, KLİNİK NEUROLOJİ, Klinik Tıp, Tıp, Sağlık Bilimleri, Klinik Tıp (MED), Nöroloji

Relation: EPILEPSIA; Ertas M., Ertas N., Ozkara C., Eskazan E., "Epileptic outpatient database program: A nationwide collaborative study effort.", EPILEPSIA, cilt.40, ss.232, 1999; av_129f605d-8e0c-45c1-b87d-4540191579b4; vv_1032021; http://hdl.handle.net/20.500.12627/17965; 40; 232

الاتاحة: https://hdl.handle.net/20.500.12627/17965