المؤلفون: Bara, VB, Schoeler, N, Carroll, JH, Simpson, Z, Cameron, T

المصدر: Epilepsy and Behavior , 145 , Article 109280. (2023)

مصطلحات موضوعية: Ketogenic diet, Drug-resistant epilepsy, COVID-19 Pandemic, Telemedicine, Telehealth, Patient experience

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10183037/1/Schoeler_Bara%20VBH%20et%20al%20Manuscript%20REVISED.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10183037Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10183037/1/Schoeler_Bara%20VBH%20et%20al%20Manuscript%20REVISED.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10183037Test/

المؤلفون: Schoeler, N. E.

مصطلحات موضوعية: 612.8

الإتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.631938Test

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

العلاقة: 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/11568/996341Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575

الإتاحة: https://doi.org/10.1111/epi.14683Test
http://hdl.handle.net/11568/996341Test

المؤلفون: Baldassari S., Picard F., Verbeek N. E., van Kempen M., Brilstra E. H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Pippucci T., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F. E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M. -L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A. -S., Jennesson M., Sattar S., Marchal C., Nordli D. R., Lindstrom K., Striano P., Lomax L. B., Kiss C., Bartolomei F., Lepine A. F., Schoonjans A. -S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C. J., Weckhuysen S., Poduri A., Lemke J. R., Moller R. S., Baulac S.

المساهمون: Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. -L., Nava, C., Leguern, E., Julia, S., Gambardella, A., D'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. -S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. -S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Moller, R. S., Baulac, S.

مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, mTORC1 pathway, SUDEP

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000458017600019; volume:21; firstpage:398; lastpage:408; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11567/1021985Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052297159

الإتاحة: https://doi.org/10.1038/s41436-018-0060-2Test
http://hdl.handle.net/11567/1021985Test

المؤلفون: Schoeler, N, Marston, L, Lyons, L, Halsall, S, Jain, R, Titre-Johnson, S, Balogun, M, Heales, S, Eaton, S, Orford, M, Neal, E, Eltze, C, Stephen, E, Mallick, A, O'Callaghan, F, Agrawal, S, Parker, A, Kirkpatrick, M, Brunklaus, A, McLellan, A, McCullagh, H, Samanta, R, Kneen, R, Tan, J, Devlin, A, Prasad, M, Rattihalli, R, Basu, H, Desurkar, A, Williams, R, Fallon, P, Nazareth, I, Freemantle, N, Cross, JH

المصدر: EPILEPSIA , 64 pp. 43-44. (2023)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10190561Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10190561Test/

المؤلفون: Baldassari, S, Picard, F, Verbeek, NE, van Kempen, M, Brilstra, EH, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, FE, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, DR, Lindstrom, K, Striano, P, Lomax, LB, Kiss, C, Bartolomei, F, Lepine, AF, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, CJ, Weckhuysen, S, Poduri, A, Lemke, JR, Møller, RS, Baulac, S

المصدر: Genetics in Medicine (2018) (In press).

مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, SUDEP, mTORC1 pathway

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10055192/1/s41436-018-0060-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10055192Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10055192/1/s41436-018-0060-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10055192Test/

المؤلفون: Leu, C., Balestrini, S., Maher, B., Hernández-Hernández, L., Gormley, P., Hämäläinen, Eija, Heggeli, K., Schoeler, N., Novy, J., Willis, J., Plagnol, V., Ellis, R., Reavey, E., O'Regan, M., Pickrell, W.O., Thomas, R.H., Chung, S.-K., Delanty, N., McMahon, J.M., Malone, S., Sadleir, L.G., Berkovic, S.F., Nashef, L., Zuberi, S.M., Rees, M.I., Cavalleri, G.L., Sander, J.W., Hughes, E., Helen Cross, J., Scheffer, I.E., Palotie, A., Sisodiya, S.M.

المساهمون: Institute for Molecular Medicine Finland, University of Helsinki, Research Programs Unit, Research Programme of Molecular Medicine, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: Leu , C , Balestrini , S , Maher , B , Hernández-Hernández , L , Gormley , P , Hämäläinen , E , Heggeli , K , Schoeler , N , Novy , J , Willis , J , Plagnol , V , Ellis , R , Reavey , E , O'Regan , M , Pickrell , W O , Thomas , R H , Chung , S-K , Delanty , N , McMahon , J M , Malone , S , Sadleir , L G , Berkovic , S F , Nashef , L , Zuberi , S M , Rees , M I , Cavalleri , G L , Sander , J W , Hughes , E , Helen Cross , J , Scheffer , I E , Palotie , A & Sisodiya , S M 2015 , ' Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy ' , EBioMedicine , vol. 2 , no. 9 , pp. 1063-1070 . https://doi.org/10.1016/j.ebiom.2015.07.005Test; Bibtex: urn:fd778ee245124bbbd4f5de6dd99f0415; ORCID: /0000-0002-2527-5874/work/97266343; 84953742915; 66deb001-31cc-4095-9462-7eb1903938f4; http://hdl.handle.net/10138/224278Test; 000365957600019

الإتاحة: http://hdl.handle.net/10138/224278Test

المؤلفون: Titre-Johnson, S, Schoeler, N, Eltze, C, Williams, R, Vezyroglou, K, McCullagh, H, Freemantle, N, Heales, S, Kneen, R, Marston, L, Martland, T, Nazareth, I, Neal, E, Lux, A, Parker, A, Agrawal, S, Fallon, P, Cross, JH

المصدر: Trials , 18 , Article 195. (2017)

مصطلحات موضوعية: Epilepsy, Infants, Ketogenic diet, Randomised controlled trial

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1554576/1/Titre-Johnson_Ketogenic_diet.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1554576/6/Titre-Johnson_Ketogenic_diet_supplementary.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1554576Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1554576/1/Titre-Johnson_Ketogenic_diet.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1554576/6/Titre-Johnson_Ketogenic_diet_supplementary.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1554576Test/

المؤلفون: Leu, C., Balestrini, S., Maher, B., Hernández-Hernández, L., Gormley, P., Hämäläinen, E., Heggeli, K., Schoeler, N., Novy, J., Willis, J., Plagnol, V., Ellis, R., Reavey, E., O'Regan, M., Pickrell, W.O., Thomas, R.H., Chung, S.K., Delanty, N., McMahon, J.M., Malone, S., Sadleir, L.G., Berkovic, S.F., Nashef, L., Zuberi, S.M., Rees, M.I., Cavalleri, G.L., Sander, J.W., Hughes, E., Helen Cross, J., Scheffer, I.E., Palotie, A., Sisodiya, S.M.

المصدر: Ebiomedicine, vol. 2, no. 9, pp. 1063-1070

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26501104; info:eu-repo/semantics/altIdentifier/eissn/2352-3964; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8B742A0505B87; https://serval.unil.ch/notice/serval:BIB_8B742A0505B8Test; urn:issn:2352-3964; https://serval.unil.ch/resource/serval:BIB_8B742A0505B8.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8B742A0505B87Test

الإتاحة: https://doi.org/10.1016/j.ebiom.2015.07.005Test
https://serval.unil.ch/notice/serval:BIB_8B742A0505B8Test
https://serval.unil.ch/resource/serval:BIB_8B742A0505B8.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8B742A0505B87Test

المؤلفون: Leu, C, Balestrini, S, Maher, B, Hernández-Hernández, L, Gormley, P, Hämäläinen, E, Heggeli, K, Schoeler, N, Novy, J, Willis, J, Plagnol, V, Ellis, R, Reavey, E, O'Regan, M, Pickrell, WO, Thomas, RH, Chung, SK, Delanty, N, McMahon, JM, Malone, S, Sadleir, LG, Berkovic, SF, Nashef, L, Zuberi, SM, Rees, MI, Cavalleri, GL, Sander, JW, Hughes, E, Helen Cross, J, Scheffer, IE, Palotie, A, Sisodiya, SM

المصدر: EBioMedicine , 2 (9) pp. 1063-1070. (2015)

مصطلحات موضوعية: AED, anti-epileptic drug, Association, Burden, Death, Epilepsy, MAF, minor allele frequency, Mortality, QC, quality control, SUDEP, sudden unexpected death in epilepsy, Severity, WES, whole-exome sequencing, number

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1474428/1/1-s2.0-S235239641530061X-main%20%282%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1474428/9/Leu_mmc1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1474428Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1474428/1/1-s2.0-S235239641530061X-main%20%282%29.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1474428/9/Leu_mmc1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1474428Test/