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1دورية أكاديمية
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
العلاقة: 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/11585/957673Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6Test
الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://hdl.handle.net/11585/957673Test
https://www.nature.com/articles/s41467-023-39539-6Test -
2دورية أكاديمية
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
العلاقة: 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-wTest.; http://hdl.handle.net/11343/337633Test
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3دورية أكاديمية
المؤلفون: Ververi, A, Zagaglia, S, Menzies, L, Baptista, J, Caswell, R, Baulac, S, Ellard, S, Lynch, S, Consortium, GER, Jacques, TS, Chawla, MS, Heier, M, Kulseth, MA, Mero, I-L, Våtevik, AK, Kraoua, I, Rhouma, HB, Younes, TB, Miladi, Z, Turki, IBY, Jones, WD, Clement, E, Eltze, C, Mankad, K, Merve, A, Parker, J, Hoskins, B, Pressler, R, Sudhakar, S, DeVile, C, Homfray, T, Kaliakatsos, M, Ponnudas, PP, Robinson, R, Keim, SMB, Habibi, I, Reymond, A, Sisodiya, SM, Hurst, JA
وصف الملف: application/pdf; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docxTest; https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docxTest; Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; et al. Ververi, A; Zagaglia, S; Menzies, L; Baptista, J; Caswell, R; Baulac, S; Ellard, S; Lynch, S; Consortium, GER; Jacques, TS; Chawla, MS; Heier, M; Kulseth, MA; Mero, I-L; Våtevik, AK; Kraoua, I; Rhouma, HB; Younes, TB; Miladi, Z; Turki, IBY; Jones, WD; Clement, E; Eltze, C; Mankad, K; Merve, A; Parker, J; Hoskins, B; Pressler, R; Sudhakar, S; DeVile, C; Homfray, T; Kaliakatsos, M; Ponnudas, PP; Robinson, R; Keim, SMB; Habibi, I; Reymond, A; Sisodiya, SM; Hurst, JA (2023) Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Hum Mol Genet, 32 (4). pp. 580-594. ISSN 1460-2083 https://doi.org/10.1093/hmg/ddac225Test SGUL Authors: Homfray, Tessa
الإتاحة: https://doi.org/10.1093/hmg/ddac225Test
https://openaccess.sgul.ac.uk/id/eprint/115070Test/
https://openaccess.sgul.ac.uk/id/eprint/115070/1/ddac225.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115070/6/supplemental_table_1_tiered_variants_from_wgs_of_patient_1_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/7/supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/8/supplemental_table_3-roh_comparison_patients_1_2_3_and_4-revised_ddac225.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/9/supplement_1_ddac225.docxTest
https://openaccess.sgul.ac.uk/id/eprint/115070/11/supplement_2_revised_ddac225.docxTest -
4دورية أكاديمية
المؤلفون: Bacq, A, Roussel, D, Bonduelle, T, Zagaglia, S, Maletic, M, Ribierre, T, Adle-Biassette, H, Marchal, C, Jennesson, M, An, I, Genomics UK Research Consortium, ., Picard, F, Navarro, V, Sisodiya, SM, Baulac, S
المصدر: Annals of Neurology , 91 (1) pp. 101-116. (2022)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137689/1/Ryten_Annals%20of%20Neurology%20-%202021.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137689Test/
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5دورية أكاديمية
المؤلفون: Perulli, M, Poole, J, Di Lazzaro, G, D'Ambrosio, S, Silvennoinen, K, Zagaglia, S, Jimenez-Jimenez, D, Battaglia, D, Sisodiya, SM, Balestrini, S
المصدر: Movement Disorders Clinical Practice (2021)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, alternating hemiplegia of childhood, adult, movement disorders, regression, ATP1A3, MUTATIONS, ENCEPHALOPATHY, CHILDREN
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141676/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Perulli%20-%20Non%E2%80%90Stationary%20Outcome%20of%20Alternating%20Hemiplegia%20of%20Childhood%20into%20Adulthood.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141676Test/
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6دورية أكاديمية
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
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10131811Test/
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7دورية أكاديمية
المؤلفون: Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, HM, Gorman, KM, Vezyroglou, A, Møller, RS, King Frcpch, MD, Hammer, TB, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, JH, Mallick, AA, Sanchis-Juan, A, Basu, A, Raymond, FL, Lynch, BJ, Majumdar Frcpch, A, Stamberger, H, Weckhuysen, S, Sisodiya, SM, Kurian, MA
المصدر: Neurology , 96 (11) e1539-e1550. (2021)
مصطلحات موضوعية: All Epilepsy/Seizures, Developmental disorders, Dystonia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124148/4/Sisodiya_RHOBTB2%20for%20Neurology%20revisions_March21.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124148/14/Sisodiya_RHOBTB2%20gene%20diagram%20v2_SZ.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124148Test/
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8دورية أكاديمية
المؤلفون: Balestrini, S, Koepp, MJ, Gandhi, S, Rickman, HM, Yen Shin, G, Houlihan, CF, Anders-Cannon, J, Silvennoinen, K, Xiao, F, Zagaglia, S, Hudgell, K, Ziomek, M, Haimes, P, Sampson, A, Parker, A, Helen Cross, J, Pardington, R, Nastouli, E, Swanton, C, Sander, JW, Sisodiya, SM
المصدر: Epilepsy & Behavior , 115 , Article 107602. (2021)
مصطلحات موضوعية: SARS-CoV-2, Vulnerable people, Surveillance, Prevention, Care Models
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10115199/1/1-s2.0-S1525505020307824-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10115199Test/
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9دورية أكاديمية
المؤلفون: Silvennoinen K., de Lange N., Zagaglia S., Balestrini S., Androsova G., Wassenaar M., Auce P., Avbersek A., Becker F., Berghuis B., Campbell E., Coppola A., Francis B., Wolking S., Cavalleri G. L., Craig J., Delanty N., Johnson M. R., Koeleman B. P. C., Kunz W. S., Lerche H., Marson A. G., O'Brien T. J., Sander J. W., Sills G. J., Striano P., Zara F., van der Palen J., Krause R., Depondt C., Sisodiya S. M., Brodie M. J., Chinthapalli K., de Haan G. -J., Doherty C. P., Heavin S., McCormack M., Petrovski S., Sargsyan N., Slattery L., Willis J.
المساهمون: Silvennoinen, K., de Lange, N., Zagaglia, S., Balestrini, S., Androsova, G., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., Cavalleri, G. L., Craig, J., Delanty, N., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Sander, J. W., Sills, G. J., Striano, P., Zara, F., van der Palen, J., Krause, R., Depondt, C., Sisodiya, S. M., Brodie, M. J., Chinthapalli, K., de Haan, G. -J., Doherty, C. P., Heavin, S., Mccormack, M., Petrovski, S., Sargsyan, N., Slattery, L., Willis, J.
مصطلحات موضوعية: adverse drug reaction, seizure, tolerability, valproate
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000648527200005; volume:4; firstpage:420; lastpage:430; numberofpages:11; journal:EPILEPSIA OPEN; http://hdl.handle.net/11567/1022005Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070999062
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10دورية أكاديمية
المؤلفون: Zamboni P., Tesio L., Galimberti S., Massacesi L., Salvi F., D'Alessandro R., Cenni P., Galeotti R., Papini D., D'Amico R., Simi S., Valsecchi M. G., Filippini G., Ceruti S., Conforti P., Malagoni A. M., Menegatti E., Tessari M., Pancaldi F., Vanini M. E., Barbarossa E., Bartolomei I., Pellegrino L., Piscaglia M. G., Rasi F., Babini M., Drea A., Guerrini E., Lotti E. M., Morelli A., Peroni M., Zalambani V., Zecchini S., Patti F., Chisari C., Chiaramonte I., Cimino V., Giaquinta A., Di Pino L., Failla G., Veroux P., Cantello R., Leone M., Coppo L., Guzzardi G., Raymkulova O., Ruggerone S., Stecco A., Vecchio D., Confalonieri P. A., Campanella A., Caldiera V., Ciceri E., Erbetta A., Farago G., Parma L., Reggiori B., Clerici V. T., Danni M., Arborino S., De Berardinis F., Di Biagio L., Orni C., Renzi R., Rosettani P., Zagaglia S., Luccioni G., Oncini L., Quatrini C.
المساهمون: Zamboni, P., Tesio, L., Galimberti, S., Massacesi, L., Salvi, F., D'Alessandro, R., Cenni, P., Galeotti, R., Papini, D., D'Amico, R., Simi, S., Valsecchi, M. G., Filippini, G., Ceruti, S., Conforti, P., Malagoni, A. M., Menegatti, E., Tessari, M., Pancaldi, F., Vanini, M. E., Barbarossa, E., Bartolomei, I., Pellegrino, L., Piscaglia, M. G., Rasi, F., Babini, M., Drea, A., Guerrini, E., Lotti, E. M., Morelli, A., Peroni, M., Zalambani, V., Zecchini, S., Patti, F., Chisari, C., Chiaramonte, I., Cimino, V., Giaquinta, A., Di Pino, L., Failla, G., Veroux, P., Cantello, R., Leone, M., Coppo, L., Guzzardi, G., Raymkulova, O., Ruggerone, S., Stecco, A., Vecchio, D., Confalonieri, P. A., Campanella, A., Caldiera, V., Ciceri, E., Erbetta, A., Farago, G., Parma, L., Reggiori, B., Clerici, V. T., Danni, M., Arborino, S., De Berardinis, F., Di Biagio, L., Orni, C., Renzi, R., Rosettani, P., Zagaglia, S., Luccioni, G., Oncini, L., Quatrini, C.
مصطلحات موضوعية: Adolescent, Adult, Aged, Angioplasty, Double-Blind Method, Female, Follow-Up Studie, Human, Image Processing, Computer-Assisted, Italy, Magnetic Resonance Imaging, Male, Middle Aged, Multiple Sclerosis, Relapsing-Remitting, Time Factor, Ultrasonography, Doppler, Color, Young Adult, Treatment Outcome
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29150995; info:eu-repo/semantics/altIdentifier/wos/WOS:000419519100009; volume:75; issue:1; firstpage:35; lastpage:43; journal:JAMA NEUROLOGY; http://hdl.handle.net/11380/1221804Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040236861