المؤلفون: Bras, J, Guerreiro, R, Darwent, L, Parkkinen, L, Ansorge, O, Escott-Price, V, Hernandez, DG, Nalls, MA, Clark, LN, Honig, LS, Marder, K, Van Der Flier, WM, Lemstra, A, Scheltens, P, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Ortega-Cubero, S, Pastor, P, Ferman, TJ, Graff-Radford, NR, Ross, OA, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Compta, Y, Revesz, T, Lees, A, Cairns, N, Halliday, GM, Mann, D, Pickering-Brown, S, Dickson, DW, Singleton, A, Hardy, J

العلاقة: https://ora.ox.ac.uk/objects/uuid:19c99f9a-4c1d-4939-9665-4a8853f77c29Test; https://doi.org/10.1093/hmg/ddu334Test

الإتاحة: https://doi.org/10.1093/hmg/ddu334Test
https://ora.ox.ac.uk/objects/uuid:19c99f9a-4c1d-4939-9665-4a8853f77c29Test

المؤلفون: Warner, TT, Alakbarzade, V, Iype, T, Chioza, BA, Singh, R, Harlalka, GV, Hardy, H, Sreekantan-Nair, A, Proukakis, C, Peall, K, Clark, LN, Caswell, R, Lango Allen, H, Wakeling, M, Chilton, J, Baple, EL, Louis, ED, Crosby, AH

المصدر: Neurology Genetics , 5 (1) , Article e307. (2019)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10062821/8/Copy%20number%20variation%20of%20LINGO1%20in%20familial%20dystonic%20tremor.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10062821Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10062821/8/Copy%20number%20variation%20of%20LINGO1%20in%20familial%20dystonic%20tremor.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10062821Test/

المؤلفون: Smith, P, Arias, R, Sonti, S, Odgerel, Z, Santa-Maria, I, McCabe, BD, Tsaneva-Atanasova, K, Louis, ED, Hodge, JJL, Clark, LN

وصف الملف: 7664-; Electronic

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/29769701Test; Sci Rep, 8(1); Vol. 8, article 7664; https://doi.org/10.1038/s41598-018-25949-wTest; R01NS073872; BB/J014400/1; EP/N014391/1; http://hdl.handle.net/10871/132489Test; Scientific Reports

الإتاحة: https://doi.org/10.1038/s41598-018-25949-wTest
http://hdl.handle.net/10871/132489Test

المؤلفون: Hui, KY, Fernandez-Hernandez, H, Hu, J, Schaffner, A, Pankratz, N, Hsu, N-Y, Chuang, L-S, Carmi, S, Villaverde, N, Li, X, Rivas, M, Levine, AP, Bao, X, Labrias, PR, Haritunians, T, Ruane, D, Gettler, K, Chen, E, Li, D, Schiff, ER, Pontikos, N, Barzilai, N, Brant, SR, Bressman, S, Cheifetz, AS, Clark, LN, Daly, MJ, Desnick, RJ, Duerr, RH, Katz, S, Lencz, T, Myers, RH, Ostrer, H, Ozelius, L, Payami, H, Peter, Y, Rioux, JD, Segal, AW, Scott, WK, Silverberg, MS, Vance, JM, Ubarretxena-Belandia, I, Foroud, T, Atzmon, G, Pe'er, I, Ioannou, Y, McGovern, DPB, Yue, Z, Schadt, EE, Cho, JH, Peter, I

المصدر: Science Translational Medicine , 10 (423) , Article eaai7795. (2018)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cell Biology, Medicine, Research & Experimental, Research & Experimental Medicine, INFLAMMATORY-BOWEL-DISEASE, GENOME-WIDE ASSOCIATION, AUTOSOMAL-DOMINANT PARKINSONISM, SUSCEPTIBILITY LOCI, ULCERATIVE-COLITIS, METAANALYSIS, DYSFUNCTION, EXPRESSION, MUTATION, ARCHITECTURE

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10042816/1/Segal_Huiaai7795_CombinedPDF_v6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10042816Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10042816/1/Segal_Huiaai7795_CombinedPDF_v6.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10042816Test/

المؤلفون: Kun-Rodrigues, C, Ross, OA, Orme, T, Shepherd, C, Parkkinen, L, Darwent, L, Hernandez, D, Ansorge, O, Clark, LN, Honig, LS, Marder, K, Lemstra, A, Scheltens, P, van der Flier, W, Louwersheimer, E, Holstege, H, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, Van Deerlin, V, Trojanowski, JQ, Serrano, GE, Beach, TG, Clarimon, J, Lleó, A, Morenas-Rodríguez, E, Lesage, S, Galasko, D, Masliah, E, Santana, I, Diez, M, Pastor, P, Tienari, PJ, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, BF, Petersen, RC, Ferman, TJ, Escott-Price, V, Graff-Radford, N, Cairns, NJ, Morris, JC, Stone, DJ, Pickering-Brown, S, Mann, D, Dickson, DW, Halliday, GM, Singleton, A, Guerreiro, R, Bras, J

المصدر: Neurobiology of Aging , 49 214.e13-214.e15. (2017)

مصطلحات موضوعية: C9orf72, Dementia with Lewy bodies (DLB), Genetic screen

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1518311/1/Kun-Rodrigues_Analysis_of_C9orf72.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1518311Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1518311/1/Kun-Rodrigues_Analysis_of_C9orf72.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1518311Test/

المؤلفون: Müller, SH, Girard, SL, Hopfner, F, Merner, ND, Bourassa, CV, Lorenz, D, Clark, LN, Tittmann, L, Soto-Ortolaza, AI, Klebe, S, Hallett, M, Schneider, SA, Hodgkinson, CA, Lieb, W, Wszolek, ZK, Pendziwiat, M, Lorenzo-Betancor, O, Poewe, W, Ortega-Cubero, S, Seppi, K, Rajput, A, Hussl, A, Rajput, AH, Berg, D, Dion, PA, Wurster, I, Shulman, JM, Srulijes, K, Haubenberger, D, Pastor, P, Vilariño-Güell, C, Postuma, RB, Bernard, G, Ladwig, K-H, Dupré, N, Jankovic, J, Strauch, K, Panisset, M, Winkelmann, J, Testa, CM, Reischl, E, Zeuner, KE, Ross, OA, Arzberger, T, Chouinard, S, Deuschl, G, Louis, ED, Kuhlenbäumer, G, Rouleau, GA

المصدر: Brain , 139 (12) pp. 3163-3169. (2016)

مصطلحات موضوعية: essential tremor, genetics, genome-wide association study, movement disorders, tremor, Humans, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, alpha Catenin

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10064136/1/aww242.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10064136Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10064136/1/aww242.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10064136Test/

المؤلفون: Wray S, Self M, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium James F. Gusella, Marcy E. MacDonald, Vanessa C. Wheeler, Christopher A. Ross, Sergey Akimov, Jamshid Arjomand, Leslie M. Thompson, Alvin King, Neal Hermanowicz, Sara Winokur, Clive N. Svendsen, Virginia Mattis, ONORATI, MARCO, Elena Cattaneo, Nicholas D. Allen, Paul J. Kemp, Kwang Soo Kim, Steven Finkbeiner, NINDS ALS iPSC Consortium, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J.

المساهمون: Wray, S, Self, M, NINDS Parkinson's Disease iPSC, Consortium, NINDS Huntington's Disease iPSC Consortium James F., Gusella, Marcy E., Macdonald, Vanessa C., Wheeler, Christopher A., Ro, Sergey, Akimov, Jamshid, Arjomand, Leslie M., Thompson, Alvin, King, Neal, Hermanowicz, Sara, Winokur, Clive N., Svendsen, Virginia, Matti, Onorati, Marco, Elena, Cattaneo, Nicholas D., Allen, Paul J., Kemp, Kwang Soo, Kim, Steven, Finkbeiner, NINDS ALS iPSC, Consortium, Lewis, Pa, Taanman, Jw, Ryan, N, Mahoney, Cj, Liang, Y, Devine, Mj, Sheerin, Um, Houlden, H, Morris, Hr, Healy, D, Marti Masso, Jf, Preza, E, Barker, S, Sutherland, M, Corriveau, Ra, D'Andrea, M, Schapira, Ah, Uitti, Rj, Guttman, M, Opala, G, Jasinska Myga, B, Puschmann, A, Nilsson, C, Espay, Aj, Slawek, J, Gutmann, L, Boeve, Bf, Boylan, K, Stoessl, Aj, Ross, Oa, Maragakis, Nj, Van Gerpen, J, Gerstenhaber, M, Gwinn, K, Dawson, Tm, Isacson, O, Marder, K, Clark, Ln, Przedborski, Se, Finkbeiner, S, Rothstein, Jd, Wszolek, Zk, Rossor, Mn, Hardy, J.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000308044800019; volume:7; issue:8; numberofpages:8; journal:PLOS ONE; https://hdl.handle.net/11568/849136Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865409773; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043099Test

الإتاحة: https://doi.org/10.1371/journal.pone.0043099Test
https://hdl.handle.net/11568/849136Test
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043099Test

المؤلفون: Sanna Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi A.G., SCOLARI, Francesco

المساهمون: Sanna Cherchi, S, Burgess, Ke, Nees, Sn, Caridi, G, Weng, Pl, Dagnino, M, Bodria, M, Carrea, A, Allegretta, Ma, Kim, Hr, Perry, Bj, Gigante, M, Clark, Ln, Kisselev, S, Cusi, D, Gesualdo, L, Allegri, L, Scolari, Francesco, D'Agati, V, Shapiro, L, Pecoraro, C, Palomero, T, Ghiggeri, Gm, Gharavi, A. G.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000293264900010; firstpage:-; lastpage:-; journal:KIDNEY INTERNATIONAL; http://hdl.handle.net/11379/67847Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80052272947

الإتاحة: http://hdl.handle.net/11379/67847Test

المؤلفون: Bras, J, Guerreiro, R, Darwent, L, Parkkinen, L, Ansorge, O, Escott-Price, V, Hernandez, DG, Nalls, MA, Clark, LN, Honig, LS, Marder, K, Van Der Flier, WM, Lemstra, A, Scheltens, P, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Ortega-Cubero, S, Pastor, P, Ferman, TJ, Graff-Radford, NR, Ross, OA, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Compta, Y, Revesz, T, Lees, A, Cairns, N, Halliday, GM, Mann, D, Pickering-Brown, S, Dickson, DW, Singleton, A, Hardy, J

المصدر: Hum Mol Genet , 23 (23) 6139 - 6146. (2014)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1433429/1/Hum._Mol._Genet.-2014-Bras-6139-46.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1433429Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1433429/1/Hum._Mol._Genet.-2014-Bras-6139-46.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1433429Test/

المؤلفون: Wray, S, Self, M, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Lewis, PA, Taanman, JW, Ryan, NS, Mahoney, CJ, Liang, Y, Devine, MJ, Sheerin, UM, Houlden, H, Morris, HR, Healy, D, Marti-Masso, JF, Preza, E, Barker, S, Sutherland, M, Corriveau, RA, D'Andrea, M, Schapira, AH, Uitti, RJ, Guttman, M, Opala, G, Jasinska-Myga, B, Puschmann, A, Nilsson, C, Espay, AJ, Slawek, J, Gutmann, L, Boeve, BF, Boylan, K, Stoessl, AJ, Ross, OA, Maragakis, NJ, Van Gerpen, J, Gerstenhaber, M, Gwinn, K, Dawson, TM, Isacson, O, Marder, KS, Clark, LN, Przedborski, SE, Finkbeiner, S, Rothstein, JD, Wszolek, ZK, Rossor, MN, Hardy, J

المصدر: PLOS One , 7 (8) , Article e43099. (2012)

مصطلحات موضوعية: Access to Information, Biopsy, Cell Differentiation, Cell Line, Cell Proliferation, Databases, Factual, Fibroblasts, Humans, Immunohistochemistry, Induced Pluripotent Stem Cells, Models, Genetic, Mutation, Nervous System Diseases, Tissue Banks

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1366046/1/1366046.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1366046Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1366046/1/1366046.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1366046Test/