المؤلفون: Ptacek, Louis, Heinzen, EL, Swoboda, KJ, Hitomi, Y, Gurrieri, F, De, B, Tiziano, FD, Fontaine, B, Walley, NM, Heavin, S, Panagiotakaki, E

الوصول الحر: https://escholarship.org/uc/item/2xh7k1wzTest

المؤلفون: Abou-Khalil, B, Auce, P, Avbersek, A, Bahlo, M, Balding, DJ, Bast, T, Baum, L, Becker, AJ, Becker, F, Berghuis, B, Berkovic, SF, Boysen, KE, Bradfield, JP, Brody, LC, Buono, RJ, Campbell, E, Cascino, GD, Catarino, CB, Cavalleri, GL, Cherny, SS, Chinthapalli, K, Coffey, AJ, Compston, A, Coppola, A, Cossette, P, Craig, JJ, de Haan, G-J, De Jonghe, P, de Kovel, CGF, Delanty, N, Depondt, C, Devinsky, O, Dlugos, DJ, Doherty, CP, Elger, CE, Eriksson, JG, Ferraro, TN, Feucht, M, Francis, B, Franke, A, French, JA, Freytag, S, Gaus, V, Geller, EB, Gieger, C, Glauser, T, Glynn, S, Goldstein, DB, Gui, H, Guo, Y, Haas, KF, Hakonarson, H, Hallmann, K, Haut, S, Heinzen, EL, Helbig, I, Hengsbach, C, Hjalgrim, H, Iacomino, M, Ingason, A, Jamnadas-Khoda, J, Johnson, MR, Kalviainen, R, Kantanen, A-M, Kasperaviciute, D, Trenite, DK-N, Kirsch, HE, Knowlton, RC, Koeleman, BPC, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Kwan, P, Lal, D, Lau, Y-L, Lehesjoki, A-E, Lerche, H, Leu, C, Lieb, W, Lindhout, D, Lo, WD, Lopes-Cendes, I, Lowenstein, DH, Malovini, A, Marson, AG, Mayer, T, McCormack, M, Mills, JL, Mirza, N, Moerzinger, M, Moller, RS, Molloy, AM, Muhle, H, Newton, M, Ng, P-W, Noethen, MM, Nuernberg, P, O'Brien, TJ, Oliver, KL, Palotie, A, Pangilinan, F, Peter, S, Petrovski, S, Poduri, A, Privitera, M, Radtke, R, Rau, S, Reif, PS, Reinthaler, EM, Rosenow, F, Sander, JW, Sander, T, Scattergood, T, Schachter, SC, Schankin, CJ, Scheffer, IE, Schmitz, B, Schoch, S, Sham, PC, Shih, JJ, Sills, GJ, Sisodiya, SM, Slattery, L, Smith, A, Smith, DF, Smith, MC, Smith, PE, Sonsma, ACM, Speed, D, Sperling, MR, Steinhoff, BJ, Stephani, U, Stevelink, R, Strauch, K, Striano, P, Stroink, H, Surges, R, Tan, KM, Thio, LL, Thomas, GN, Todaro, M, Tozzi, R, Vari, MS, Vining, EPG, Visscher, F, von Spiczak, S, Walley, NM, Weber, YG, Wei, Z, Weisenberg, J, Whelan, CD, Widdess-Walsh, P, Wolff, M, Wolking, S, Yang, W, Zara, F, Zimprich, F

المصدر: Nature Communications , 9 , Article 5269. (2018)

مصطلحات موضوعية: Epilepsy, Genetics of the nervous system, Genetics research, Genome-wide association studies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10064853/3/s41467-018-07524-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10064853Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10064853/3/s41467-018-07524-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10064853Test/

المؤلفون: Heinzen, EL, Radtke, RA, Urban, TJ, Cavalleri, GL, Depondt, C, Need, AC, Walley, NM, Nicoletti, P, Ge, DL, Catarino, CB, Duncan, JS, Kasperaviciute, D, Tate, SK, Caboclo, LO, Sander, JW, Clayton, L, Linney, KN, Shianna, KV, Gumbs, CE, Smith, J, Cronin, KD, Maia, JM, Doherty, CP, Pandolfo, M, Leppert, D, Middleton, LT, Gibson, RA, Johnson, MR, Matthews, PM, Hosford, D, Kalviainen, R, Eriksson, K, Kantanen, AM, Dorn, T, Hansen, J, Kramer, G, Steinhoff, BJ, Wieser, HG, Zumsteg, D, Ortega, M, Wood, NW, Huxley-Jones, J, Mikati, M, Gallentine, WB, Husain, AM, Buckley, PG, Stallings, RL, Podgoreanu, MV, Delanty, N, Sisodiya, SM, Goldstein, DB

المصدر: The American Journal of Human Genetics , 86 (5) 707 - 718. (2010)

مصطلحات موضوعية: Idiopathic generalized epilepsy, childhood absence epilepsy, lateral temporal epilepsy, febrile seizures, 15q13.3 microdeletions, mutation, schizophrenia, association, genes

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/140236/1/1-s2.0-S0002929710001631-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/140236Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/140236/1/1-s2.0-S0002929710001631-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/140236Test/

المؤلفون: Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, YH, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, M T, McLaughlin, H, Piera, MR, Orellana, C, Martinez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasseit, PM, Hofstede, FC, van Gassen, K L I, Brooks, Alice, van Slegtenhorst, Marjon, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Campeau, PM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dillon, A, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Eckstein, DJ, Emrick, LT, Eng, CM, Eskin, A, Esteves, C, Estwick, T, Ferreira, C, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, Handley, LH, Herzog, MR, Holm, IA, Hom, J, Howerton, EM, Huang, Y, Jacob, HJ, Jain, M, Johnston, JM, Jones, AL, Kohane, IS, Krasnewich, DM, Krieg, EL, Krier, JB, Lalani, SR, Lalani, Lau, CC, Lazar, J, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Lipson, A, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majcherska, MM, Malicdan, MCV, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martinez-Agosto, JA, Marwaha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AT, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Sampson, JB, Samson, SL, Schoch, K, Schroeder, MC, Scott, DA, Sharma, P, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Splinter, K, Stoler, JM, Sweetser, DA, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Valivullah, ZM, Vilain, E, Vogel, TP, Wahl, CE, Walley, NM, Walsh, CA, Ward, PA, Waters, KM, Westerfield, M, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, YP, Yu, GY, Zastrow, DB, Zheng, A

المصدر: Machol , K , Rousseau , J , Ehresmann , S , Garcia , T , Nguyen , TTM , Spillmann , RC , Sullivan , JA , Shashi , V , Jiang , YH , Stong , N , Fiala , E , Willing , M , Pfundt , R , Kleefstra , T , Cho , M T , McLaughlin , H , Piera , MR , Orellana , C , Martinez , F , Caro-Llopis , A , Monfort , S , Roscioli , T , Nixon , CY , Buckley , MF , Turner , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8fTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.11.007Test
https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8fTest

المؤلفون: Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Perez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, Poduri, A, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Baker, E, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bellen, HJ, Bernstein, JA, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Davidson, JM, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Dries, AM, Eckstein, DJ, Emrick, LT, Eng, CM, Enns, G-GM, Eskin, A, Esteves, C, Estwick, T, Fairbrother, L, Fernandez, L, Ferreira, C, Fieg, EL, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldman, AM, Goldstein, DB, Gould, SE, Gourdine, J-PF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, High, F, Holm, IA, Horn, J, Howerton, EM, Huang, Y, Jamal, F, Jiang, Y-H, Johnston, JM, Jones, AL, Karaviti, L, Koeller, DM, Kohane, IS, Kohler, JN, Konick, S, Koziura, M, Krasnewich, DM, Krier, JB, Kyle, JE, Lalani, SR, Lau, CC, Lazar, J, LeBlanc, K, Lee, BH, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majch-erska, MM, Malicdan, MC, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martin, MG, Martinez-Agosto, JA, Mar-waha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AF, Merker, JD, Metz, TO, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murdock, DR, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Orengo, JP, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schoch, K, Scott, DA, Shakachite, L, Sharma, P, Shashi, V, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Spillmann, RC, Stoler, JM, Stong, N, Sullivan, JA, Tan, QK-G, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Vilain, E, Vogel, TP, Waggott, DM, Wahl, CE, Walker, M, Walley, NM, Walsh, CA, Wan, J, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, B-JM, Westerfield, M, Wheeler, MT, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yoon, AJ, Yu, G, Zastrow, DB, Zhao, C, Zheng, A

العلاقة: Kelly, M., Park, M., Mihalek, I., Rochtus, A., Gramm, M., Perez-Palma, E., Axeen, E. T., Hung, C. Y., Olson, H., Swanson, L., Anselm, I., Briere, L. C., High, F. A., Sweetser, D. A., Kayani, S., Snyder, M., Calvert, S., Scheffer, I. E., Yang, E. ,. Zheng, A. (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. EPILEPSIA, 60 (3), pp.406-418. https://doi.org/10.1111/epi.14653Test.; http://hdl.handle.net/11343/285365Test

الإتاحة: https://doi.org/10.1111/epi.14653Test
http://hdl.handle.net/11343/285365Test

المؤلفون: Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO

المساهمون: Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, Fd, Fontaine, B, Walley, Nm, Heavin, S, Panagiotakaki, E, European Alternating Hemiplegia of Childhood Genetics, Consortium, Neri, G, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, M, van den Maagdenberg, A, Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium, Zucca, C, Bassi, Mt, Franchini, F, Vavassori, R, Giannotta, M, Gobbi, G, Granata, T, Nardocci, N, De Grandis, E, Veneselli, E, Stagnaro, M, Vigevano, F, European Network for Research on Alternating Hemiplegia for, Small, Medium sized Enterpriese, Consortium, Oechsler, C, Arzimanoglou, A, Ninan, M, Neville, B, Ebinger, F, Fons, C, Campistol, J, Kemlink, D, Nevsimalova, S, Peeters Scholte, C, Casaer, P, Casari, GIORGIO NEVIO, Sange, G, Spiel, G, Martinelli Boneschi, F, Schyns, T, Crawley, F, Poncelin, D, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Ferrari, Md, Bye, Am, Herkes, Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, van den Maagdenberg, Am, Sisodiya, Sm, Mikati, Ma, Goldstein, D. B.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22842232; info:eu-repo/semantics/altIdentifier/wos/WOS:000308491200015; volume:44; firstpage:1030-4; journal:NATURE GENETICS; http://hdl.handle.net/20.500.11768/12933Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865684547

الإتاحة: https://doi.org/20.500.11768/12933Test
https://doi.org/10.1038/ng.2358Test
https://hdl.handle.net/20.500.11768/12933Test

المؤلفون: Heinzen, EL, Swoboda, KJ, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, FD, Fontaine, B, Walley, NM, Heavin, S, Panagiotakaki, E, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, MT, Newcomb, TM, Viollet, L, Huff, C, Jorde, LB, Reyna, SP, Murphy, KJ, Shianna, KV, Gumbs, CE, Little, L, Silver, K, Ptacek, LJ, Haan, J, Ferrari, MD, Bye, AM, Herkes, GK, Whitelaw, CM, Webb, D, Lynch, BJ, Uldall, P, King, MD, Scheffer, IE, Neri, G, Arzimanoglou, A, van den Maagdenberg, AMJM, Sisodiya, SM, Mikati, MA, Goldstein, DB

العلاقة: pii: ng.2358; Heinzen, E. L., Swoboda, K. J., Hitomi, Y., Gurrieri, F., Nicole, S., de Vries, B., Tiziano, F. D., Fontaine, B., Walley, N. M., Heavin, S., Panagiotakaki, E., Fiori, S., Abiusi, E., Di Pietro, L., Sweney, M. T., Newcomb, T. M., Viollet, L., Huff, C., Jorde, L. B. ,. Goldstein, D. B. (2012). De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. NATURE GENETICS, 44 (9), pp.1030-+. https://doi.org/10.1038/ng.2358Test.; http://hdl.handle.net/11343/268703Test

الإتاحة: https://doi.org/10.1038/ng.2358Test
http://hdl.handle.net/11343/268703Test

المؤلفون: Gurrieri, Fiorella, Tiziano, Francesco Danilo, Di Pietro, Lorena, Neri, Giovanni

المساهمون: Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, Fiorella, Tiziano, Francesco Danilo, Nicole, S, Fontaine, B, De Vries, B, Walley, Nm, Heavin, S, Panagiotakaki, E, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, Mirella, Van Den Maagdenberg, A, Fiori, S, Abiusi, E, Di Pietro, Lorena, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Herke, S Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, Neri, Giovanni, Arzimanoglou, A, Sisodiya, Sm, Mikati, Ma, Goldstein, Db

مصطلحات موضوعية: Alternating Hemiplegia, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22842232; info:eu-repo/semantics/altIdentifier/wos/WOS:000308491200015; volume:44; issue:9; firstpage:1030; lastpage:1034; numberofpages:5; issueyear:2012; journal:NATURE GENETICS; http://hdl.handle.net/10807/26487Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865684547

الإتاحة: https://doi.org/10.1038/ng.2358Test
http://hdl.handle.net/10807/26487Test