-
1دورية أكاديمية
المؤلفون: de Nys, R, van Eyk, CL, Ritchie, T, Moller, RS, Scheffer, IE, Marini, C, Bhattacharjee, R, Kumar, R, Gecz, J
العلاقة: NHMRC/2010562; pii: 10.1038/s41398-024-02783-5; de Nys, R., van Eyk, C. L., Ritchie, T., Moller, R. S., Scheffer, I. E., Marini, C., Bhattacharjee, R., Kumar, R. & Gecz, J. (2024). Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy. TRANSLATIONAL PSYCHIATRY, 14 (1), https://doi.org/10.1038/s41398-024-02783-5Test.; http://hdl.handle.net/11343/344417Test
-
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
-
3دورية أكاديمية
المؤلفون: Mattison, KA, Tossing, G, Mulroe, F, Simmons, C, Butler, KM, Schreiber, A, Alsadah, A, Neilson, DE, Naess, K, Wedell, A, Wredenberg, A, Sorlin, A, McCann, E, Burghel, GJ, Menendez, B, Hoganson, GE, Botto, LD, Filloux, FM, Aledo-Serrano, Á, Gil-Nagel, A, Tatton-Brown, K, Verbeek, NE, van Hirtum-Das, M, Breckpot, J, Hammer, TB, Møller, RS, Whitney, A, Douglas, AGL, Kharbanda, M, Brunetti-Pierri, N, Morleo, M, Nigro, V, May, HJ, Tao, JX, Argili, E, Sherr, EH, Dobyns, WB, Consortium, GER, Baines, RA, Warwicker, J, Parker, JA, Banka, S, Campeau, PM, Escayg, A
المصدر: Brain : a journal of neurology.
مصطلحات موضوعية: Medicin och hälsovetenskap
-
4دورية أكاديميةThe gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
المؤلفون: Brunklaus, A, Bruenger, T, Feng, T, Fons, C, Lehikoinen, A, Panagiotakaki, E, Vintan, M-A, Symonds, J, Andrew, J, Arzimanoglou, A, Delima, S, Gallois, J, Hanrahan, D, Lesca, G, MacLeod, S, Marjanovic, D, McTague, A, Nunez-Enamorado, N, Perez-Palma, E, Scott Perry, M, Pysden, K, Russ-Hall, SJ, Scheffer, IE, Sully, K, Syrbe, S, Vaher, U, Velayutham, M, Vogt, J, Weiss, S, Wirrell, E, Zuberi, SM, Lal, D, Moller, RS, Mantegazza, M, Cestele, S
العلاقة: pii: 6606157; Brunklaus, A., Bruenger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M. -A., Symonds, J., Andrew, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nunez-Enamorado, N., Perez-Palma, E. ,. Cestele, S. (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. BRAIN, 145 (11), pp.3816-3831. https://doi.org/10.1093/brain/awac210Test.; http://hdl.handle.net/11343/316392Test
-
5دورية أكاديمية
المؤلفون: Stamberger, H, Crosiers, D, Balagura, G, Bonardi, CM, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, CA, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, KM, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, Ruggiero, SM, Mochel, F, Ramond, F, Reif, PS, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, RH, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, IE, Striano, P, Moller, RS, Gardella, E, Weckhuysen, S
العلاقة: pii: WNL.0000000000200715; Stamberger, H., Crosiers, D., Balagura, G., Bonardi, C. M., Basu, A., Cantalupo, G., Chiesa, V., Christensen, J., Dalla Bernardina, B., Ellis, C. A., Furia, F., Gardiner, F., Giron, C., Guerrini, R., Klein, K. M., Korff, C., Krijtova, H., Leffner, M., Lerche, H. ,. Weckhuysen, S. (2022). Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. NEUROLOGY, 99 (3), pp.E221-E233. https://doi.org/10.1212/WNL.0000000000200715Test.; http://hdl.handle.net/11343/316387Test
-
6دورية أكاديمية
المؤلفون: Johannesen, KM, Iqbal, S, Guazzi, M, Mohammadi, NA, Pérez-Palma, E, Schaefer, E, De Saint Martin, A, Abiwarde, MT, McTague, A, Pons, R, Piton, A, Kurian, MA, Ambegaonkar, G, Firth, H, Sanchis-Juan, A, Deprez, M, Jansen, K, De Waele, L, Briltra, EH, Verbeek, NE, van Kempen, M, Fazeli, W, Striano, P, Zara, F, Visser, G, Braakman, HMH, Haeusler, M, Elbracht, M, Vaher, U, Smol, T, Lemke, JR, Platzer, K, Kennedy, J, Klein, KM, Au, PYB, Smyth, K, Kaplan, J, Thomas, M, Dewenter, MK, Dinopoulos, A, Campbell, AJ, Lal, D, Lederer, D, Liao, VWY, Ahring, PK, Møller, RS, Gardella, E
المصدر: Genetics in Medicine , 24 (3) pp. 681-693. (2022)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10143074/2/McTague_GABRB3%20mapping%20manuscript%20revision%20clean.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10143074Test/
-
7دورية أكاديمية
المؤلفون: Christensen, MB, Levy, AM, Mohammadi, NA, Niceta, M, Kaiyrzhanov, R, Dentici, ML, Al Alam, C, Alesi, V, Benoit, V, Bhatia, KP, Bierhals, T, Boßelmann, CM, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, TB, Hammer, TB, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, MY, Moudi, M, Müller, AJ, Oostra, AJ, Pletcher, BA, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, MS, Zech, M, Lerche, H, Radio, FC, Gomez-Puertas, P, Møller, RS, Tümer, Z
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.ms-excel
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docxTest; https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsxTest; Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; et al. Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; Bierhals, T; Boßelmann, CM; Buratti, J; Callewaert, B; Ceulemans, B; Charles, P; De Wachter, M; Dehghani, M; D'haenens, E; Doco-Fenzy, M; Geßner, M; Gobert, C; Guliyeva, U; Haack, TB; Hammer, TB; Heinrich, T; Hempel, M; Herget, T; Hoffmann, U; Horvath, J; Houlden, H; Keren, B; Kresge, C; Kumps, C; Lederer, D; Lermine, A; Magrinelli, F; Maroofian, R; Vahidi Mehrjardi, MY; Moudi, M; Müller, AJ; Oostra, AJ; Pletcher, BA; Ros-Pardo, D; Samarasekera, S; Tartaglia, M; Van Schil, K; Vogt, J; Wassmer, E; Winkelmann, J; Zaki, MS; Zech, M; Lerche, H; Radio, FC; Gomez-Puertas, P; Møller, RS; Tümer, Z (2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin Genet, 102 (2). pp. 98-109. ISSN 1399-0004 https://doi.org/10.1111/cge.14165Test SGUL Authors: Maroofian, Reza
الإتاحة: https://doi.org/10.1111/cge.14165Test
https://openaccess.sgul.ac.uk/id/eprint/114577Test/
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docxTest
https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsxTest -
8دورية أكاديمية
المؤلفون: Stamberger, H, Hammer, TB, Gardella, E, Vlaskamp, DRM, Bertelsen, B, Mandelstam, S, Lange, I, Zhang, J, Myers, CT, Fenger, C, Afawi, Z, Almanza Fuerte, EP, Andrade, DM, Balcik, Y, Ben Zeev, B, Bennett, MF, Berkovic, SF, Isidor, B, Bouman, Arjan, Brilstra, E, Busk, ØL, Cairns, A, Caumes, R, Chatron, N, Dale, RC, de Geus, C, Edery, P, Gill, D, Granild-Jensen, JB, Gunderson, L, Gunning, B, Heimer, G, Helle, JR, Hildebrand, MS, Hollingsworth, G, Kharytonov, V, Klee, EW, Koeleman, BPC, Koolen, DA (David), Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, RJ, Mackay, MT, Macke, EL, McEntagart, M, Mohammad, SS, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, AM, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, PS, Rosenow, F, Rossi, M, Sadleir, LG, Sadoway, T, Schelhaas, HJ, Schneider, AL, Shah, K, Shalev, R, Sisodiya, SM, Smol, T, Stumpel, Ctrm, Stuurman, Kyra, Symonds, JD, Mau-Them, FT, Verbeek, N, Verhoeven, JS, Wallace, G, Yosovich, K, Zarate, YA, Zerem, A, Zuberi, SM, Guerrini, R, Mefford, HC, Patel, C, Zhang, YH, Møller, RS, Scheffer, IE
المصدر: Stamberger , H , Hammer , TB , Gardella , E , Vlaskamp , DRM , Bertelsen , B , Mandelstam , S , Lange , I , Zhang , J , Myers , CT , Fenger , C , Afawi , Z , Almanza Fuerte , EP , Andrade , DM , Balcik , Y , Ben Zeev , B , Bennett , MF , Berkovic , SF , Isidor , B , Bouman , A , Brilstra , E , Busk , ØL , Cairns , A , Caumes , R , Chatron , N , Dale ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
الإتاحة: https://doi.org/10.1038/s41436-020-00988-9Test
https://pure.eur.nl/en/publications/be1c259f-7c9a-4ffe-8c90-cf355d9e1348Test
http://www.scopus.com/inward/record.url?scp=85094911047&partnerID=8YFLogxKTest
http://www.gimjournal.org/article/S109836002102548X/pdfTest -
9دورية أكاديمية
المؤلفون: Bayat, A, Kløvgaard, M, Johannesen, KM, Barakat, Stefan, Kievit, Anneke, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, Marjon, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G, Møller, RS
المصدر: Bayat , A , Kløvgaard , M , Johannesen , KM , Barakat , S , Kievit , A , Montomoli , M , Parrini , E , Pietrafusa , N , Schelhaas , J , van Slegtenhorst , M , Miya , K , Guerrini , R , Tranebjærg , L , Tümer , Z , Rubboli , G & Møller , RS 2021 , ' Deciphering the premature mortality in PIGA-CDG – An untold story ' , Epilepsy Research , vol. 170 , 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1016/j.eplepsyres.2020.106530Test
https://pure.eur.nl/en/publications/687ae827-746d-489d-849b-2a75a89aecffTest
http://www.scopus.com/inward/record.url?scp=85099969537&partnerID=8YFLogxKTest
https://findresearcher.sdu.dk/ws/files/181483403/PIGA.pdfTest -
10دورية أكاديمية
المؤلفون: Vetro, A, Nielsen, HN, Holm, R, Hevner, RF, Parrini, E, Powis, Z, Moller, RS, Bellan, C, Simonati, A, Lesca, G, Helbig, KL, Palmer, EE, Mei, D, Ballardini, E, Van Haeringen, A, Syrbe, S, Leuzzi, V, Cioni, G, Curry, CJ, Costain, G, Santucci, M, Chong, K, Mancini, GMS, Clayton-Smith, J, Bigoni, S, Scheffer, IE, Dobyns, WB, Vilsen, B, Guerrini, R
العلاقة: NHMRC/1091593; NHMRC/1104831; pii: 6242725; Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Moller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., Van Haeringen, A., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J. ,. Guerrini, R. (2021). ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. BRAIN, 144 (5), pp.1435-1450. https://doi.org/10.1093/brain/awab052Test.; http://hdl.handle.net/11343/307672Test
النص الكامل