المؤلفون: Gao, Y. (Yixin), Wang, T. (Ting), Yu, X. (Xinghao), Ferrari, R. (Raffaele), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Brooks, W.S. (William S.), Schofield, P.R. (Peter R.), Halliday, G.M. (Glenda Margaret), Hodges, J.R. (John R.), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (Elizabeth), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (Mercè), Borroni, B. (Barbara), Padovani, A. (Alessandro), Crane, L.M.A., Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (Roberta), Forloni, G. (Gianluigi), Albani, D. (Diego), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (Elio), Clarimón, J. (Jordi), Lleo, A. (Alberto), Blesa, R. (Rafael), Waldö, M.L. (Maria Landqvist), Nilsson, K. (Karin), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.-Y.R. (Ging-Yuek R.), Mann, D.M.A. (David M. A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.J. (Alan J.), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (Michael C.), Pastor, P. (Pau), Razquin, C. (Cristina), Ortega-Cubero, S. (Sara), Alonso, E. (Elena), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), George-Hyslop, P.S. (Peter St), Rossi, G. (Giacomina), Tagliavini, F. (Fabrizio), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (John), Mead, S. (Simon), Danek, A. (Adrian), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (John Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (Alexis), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (Jørgen E.), Hjermind, L.E. (Lena), Riemenschneider, M. (Matthias), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (Wei), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H.R. (Huw R.), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (Ronald C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley F.), Parisi, J.E. (Joseph), Seeley, W.W. (William W.), Miller, B.L. (Bruce L.), Karydas, A.M. (Anna M.), Rosen, H. (Howard), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (Harro), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, M. (Massimo), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (Caroline), Pasquier, F. (Florence), Rollin, A. (Adeline), Deramecourt, V. (Vincent), Lebouvier, T. (Thibaud), Kapogiannis, D. (Dimitrios), Ferrucci, L. (Luigi), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Hardy, J. (John), Momeni, P. (Parastoo), Zhao, H. (Huashuo), Zeng, P. (Ping)

المصدر: Scientific Reports vol. 10 no. 1

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/129177Test; urn:hdl:1765/129177

الإتاحة: https://doi.org/10.1038/s41598-020-68848-9Test
http://repub.eur.nl/pub/129177Test

المؤلفون: Lamb, R., Rohrer, J.D., Real, R., Lubbe, S.J., Waite, A.J., Blake, D.J., Jon Walters, R., Lashley, T., Revesz, T., Holton, J.L., Morris, H.R.

المصدر: http://dx.doi.org/10.1101/mcs.a003913Test.

مصطلحات موضوعية: Progressive extrapyramidal movement disorder

العلاقة: Cold Spring Harbor molecular case studies, 2019; 5(3):a003913-1-a003913-10; http://hdl.handle.net/2440/127116Test; Revesz, T. [0000-0003-2501-0259]

الإتاحة: https://doi.org/10.1101/mcs.a003913Test
http://hdl.handle.net/2440/127116Test

المؤلفون: Anttila, V., Bulik-Sullivan, B., Finucane, H.K., Walters, R.K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G.J., Gormley, P., Malik, R., Patsopoulos, N.A., Ripke, S., Wei, Z., Yu, D., Lee, P.H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., Letenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J.F., Duron, E., Vardarajan, B.N., Reitz, C., Goate, A.M., Huentelman, M.J., Kamboh, M.I., Larson, E.B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W.A., Farrer, L.A., Barnes, L.L., Beach, T.G., Demirci, F.Y., Head, E., Hulette, C.M., Jicha, G.A., Kauwe, JSK, Kaye, J.A., Leverenz, J.B., Levey, A.I., Lieberman, A.P., Pankratz, V.S., Poon, W.W., Quinn, J.F., Saykin, A.J., Schneider, L.S., Smith, A.G., Sonnen, J.A., Stern, R.A., Van Deerlin, V.M., Van Eldik, L.J., Harold, D., Russo, G., Rubinsztein, D.C., Bayer, A., Tsolaki, M., Proitsi, P., Fox, N.C., Hampel, H., Owen, M.J., Mead, S., Passmore, P., Morgan, K., Nöthen, M.M., Rossor, M., Lupton, M.K., Hoffmann, P., Kornhuber, J., Lawlor, B., McQuillin, A., Al-Chalabi, A., Bis, J.C., Ruiz, A., Boada, M., Seshadri, S., Beiser, A., Rice, K., van der Lee, S.J., De Jager, P.L., Geschwind, D.H., Riemenschneider, M., Riedel-Heller, S., Rotter, J.I., Ransmayr, G., Hyman, B.T., Cruchaga, C., Alegret, M., Winsvold, B., Palta, P., Farh, K.H., Cuenca-Leon, E., Furlotte, N., Kurth, T., Ligthart, L., Terwindt, G.M., Freilinger, T., Ran, C., Gordon, S.D., Borck, G., Adams, HHH, Lehtimäki, T., Wedenoja, J., Buring, J.E., Schürks, M., Hrafnsdottir, M., Hottenga, J.J., Penninx, B., Artto, V., Kaunisto, M., Vepsäläinen, S., Martin, N.G., Montgomery, G.W., Kurki, M.I., Hämäläinen, E., Huang, H., Huang, J., Sandor, C., Webber, C., Muller-Myhsok, B., Schreiber, S., Salomaa, V., Loehrer, E., Göbel, H., Macaya, A., Pozo-Rosich, P., Hansen, T., Werge, T., Kaprio, J., Metspalu, A., Kubisch, C., Ferrari, M.D., Belin, A.C., van den Maagdenberg, AMJM, Zwart, J.A., Boomsma, D., Eriksson, N., Olesen, J., Chasman, D.I., Nyholt, D.R., Avbersek, A., Baum, L., Berkovic, S., Bradfield, J., Buono, R., Catarino, C.B., Cossette, P., De Jonghe, P., Depondt, C., Dlugos, D., Ferraro, T.N., French, J., Hjalgrim, H., Jamnadas-Khoda, J., Kälviäinen, R., Kunz, W.S., Lerche, H., Leu, C., Lindhout, D., Lo, W., Lowenstein, D., McCormack, M., Møller, R.S., Molloy, A., Ng, P.W., Oliver, K., Privitera, M., Radtke, R., Ruppert, A.K., Sander, T., Schachter, S., Schankin, C., Scheffer, I., Schoch, S., Sisodiya, S.M., Smith, P., Sperling, M., Striano, P., Surges, R., Thomas, G.N., Visscher, F., Whelan, C.D., Zara, F., Heinzen, E.L., Marson, A., Becker, F., Stroink, H., Zimprich, F., Gasser, T., Gibbs, R., Heutink, P., Martinez, M., Morris, H.R., Sharma, M., Ryten, M., Mok, K.Y., Pulit, S., Bevan, S., Holliday, E., Attia, J., Battey, T., Boncoraglio, G., Thijs, V., Chen, W.M., Mitchell, B., Rothwell, P., Sharma, P., Sudlow, C., Vicente, A., Markus, H., Kourkoulis, C., Pera, J., Raffeld, M., Silliman, S., Boraska Perica, V., Thornton, L.M., Huckins, L.M., William Rayner, N., Lewis, C.M., Gratacos, M., Rybakowski, F., Keski-Rahkonen, A., Raevuori, A., Hudson, J.I., Reichborn-Kjennerud, T., Monteleone, P., Karwautz, A., Mannik, K., Baker, J.H., O'Toole, J.K., Trace, S.E., Davis, OSP, Helder, S.G., Ehrlich, S., Herpertz-Dahlmann, B., Danner, U.N., van Elburg, A.A., Clementi, M., Forzan, M., Docampo, E., Lissowska, J., Hauser, J., Tortorella, A., Maj, M., Gonidakis, F., Tziouvas, K., Papezova, H., Yilmaz, Z., Wagner, G., Cohen-Woods, S., Herms, S., Julià, A., Rabionet, R., Dick, D.M., Ripatti, S., Andreassen, O.A., Espeseth, T., Lundervold, A.J., Steen, V.M., Pinto, D., Scherer, S.W., Aschauer, H., Schosser, A., Alfredsson, L., Padyukov, L., Halmi, K.A., Mitchell, J., Strober, M., Bergen, A.W., Kaye, W., Szatkiewicz, J.P., Cormand, B., Ramos-Quiroga, J.A., Sánchez-Mora, C., Ribasés, M., Casas, M., Hervas, A., Arranz, M.J., Haavik, J., Zayats, T., Johansson, S., Williams, N., Dempfle, A., Rothenberger, A., Kuntsi, J., Oades, R.D., Banaschewski, T., Franke, B., Buitelaar, J.K., Arias Vasquez, A., Doyle, A.E., Reif, A., Lesch, K.P., Freitag, C., Rivero, O., Palmason, H., Romanos, M., Langley, K., Rietschel, M., Witt, S.H., Dalsgaard, S., Børglum, A.D., Waldman, I., Wilmot, B., Molly, N., Bau, CHD, Crosbie, J., Schachar, R., Loo, S.K., McGough, J.J., Grevet, E.H., Medland, S.E., Robinson, E., Weiss, L.A., Bacchelli, E., Bailey, A., Bal, V., Battaglia, A., Betancur, C., Bolton, P., Cantor, R., Celestino-Soper, P., Dawson, G., De Rubeis, S., Duque, F., Green, A., Klauck, S.M., Leboyer, M., Levitt, P., Maestrini, E., Mane, S., De-Luca, D.M., Parr, J., Regan, R., Reichenberg, A., Sandin, S., Vorstman, J., Wassink, T., Wijsman, E., Cook, E., Santangelo, S., Delorme, R., Rogé, B., Magalhaes, T., Arking, D., Schulze, T.G., Thompson, R.C., Strohmaier, J., Matthews, K., Melle, I., Morris, D., Blackwood, D., McIntosh, A., Bergen, S.E., Schalling, M., Jamain, S., Maaser, A., Fischer, S.B., Reinbold, C.S., Fullerton, J.M., Guzman-Parra, J., Mayoral, F., Schofield, P.R., Cichon, S., Mühleisen, T.W., Degenhardt, F., Schumacher, J., Bauer, M., Mitchell, P.B., Gershon, E.S., Rice, J., Potash, J.B., Zandi, P.P., Craddock, N., Ferrier, I.N., Alda, M., Rouleau, G.A., Turecki, G., Ophoff, R., Pato, C., Anjorin, A., Stahl, E., Leber, M., Czerski, P.M., Cruceanu, C., Jones, I.R., Posthuma, D., Andlauer, TFM, Forstner, A.J., Streit, F., Baune, B.T., Air, T., Sinnamon, G., Wray, N.R., MacIntyre, D.J., Porteous, D., Homuth, G., Rivera, M., Grove, J., Middeldorp, C.M., Hickie, I., Pergadia, M., Mehta, D., Smit, J.H., Jansen, R., de Geus, E., Dunn, E., Li, Q.S., Nauck, M., Schoevers, R.A., Beekman, A.T., Knowles, J.A., Viktorin, A., Arnold, P., Barr, C.L., Bedoya-Berrio, G., Bienvenu, O.J., Brentani, H., Burton, C., Camarena, B., Cappi, C., Cath, D., Cavallini, M., Cusi, D., Darrow, S., Denys, D., Derks, E.M., Dietrich, A., Fernandez, T., Figee, M., Freimer, N., Gerber, G., Grados, M., Greenberg, E., Hanna, G.L., Hartmann, A., Hirschtritt, M.E., Hoekstra, P.J., Huang, A., Huyser, C., Illmann, C., Jenike, M., Kuperman, S., Leventhal, B., Lochner, C., Lyon, G.J., Macciardi, F., Madruga-Garrido, M., Malaty, I.A., Maras, A., McGrath, L., Miguel, E.C., Mir, P., Nestadt, G., Nicolini, H., Okun, M.S., Pakstis, A., Paschou, P., Piacentini, J., Pittenger, C., Plessen, K., Ramensky, V., Ramos, E.M., Reus, V., Richter, M.A., Riddle, M.A., Robertson, M.M., Roessner, V., Rosário, M., Samuels, J.F., Sandor, P., Stein, D.J., Tsetsos, F., Van Nieuwerburgh, F., Weatherall, S., Wendland, J.R., Wolanczyk, T., Worbe, Y., Zai, G., Goes, F.S., McLaughlin, N., Nestadt, P.S., Grabe, H.J., Depienne, C., Konkashbaev, A., Lanzagorta, N., Valencia-Duarte, A., Bramon, E., Buccola, N., Cahn, W., Cairns, M., Chong, S.A., Cohen, D., Crespo-Facorro, B., Crowley, J., Davidson, M., DeLisi, L., Dinan, T., Donohoe, G., Drapeau, E., Duan, J., Haan, L., Hougaard, D., Karachanak-Yankova, S., Khrunin, A., Klovins, J., Kučinskas, V., Lee Chee Keong, J., Limborska, S., Loughland, C., Lönnqvist, J., Maher, B., Mattheisen, M., McDonald, C., Murphy, K.C., Nenadic, I., van Os, J., Pantelis, C., Pato, M., Petryshen, T., Quested, D., Roussos, P., Sanders, A.R., Schall, U., Schwab, S.G., Sim, K., So, H.C., Stögmann, E., Subramaniam, M., Toncheva, D., Waddington, J., Walters, J., Weiser, M., Cheng, W., Cloninger, R., Curtis, D., Gejman, P.V., Henskens, F., Mattingsdal, M., Oh, S.Y., Scott, R., Webb, B., Breen, G., Churchhouse, C., Bulik, C.M., Daly, M., Dichgans, M., Faraone, S.V., Guerreiro, R., Holmans, P., Kendler, K.S., Koeleman, B., Mathews, C.A., Price, A., Scharf, J., Sklar, P., Williams, J., Wood, N.W., Cotsapas, C., Palotie, A., Smoller, J.W., Sullivan, P., Rosand, J., Corvin, A., Neale, B.M., Schott, J.M., Anney, R., Elia, J., Grigoroiu-Serbanescu, M., Edenberg, H.J., Murray, R.

المساهمون: Brainstorm Consortium

المصدر: Science, vol. 360, no. 6395, pp. eaap8757

مصطلحات موضوعية: Brain Diseases/classification, Brain Diseases/diagnosis, Brain Diseases/genetics, Genetic Variation, Genome-Wide Association Study, Humans, Mental Disorders/classification, Mental Disorders/diagnosis, Mental Disorders/genetics, Phenotype, Quantitative Trait, Heritable, Risk Factors

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29930110; info:eu-repo/semantics/altIdentifier/eissn/1095-9203; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_77315235F9BB5; https://serval.unil.ch/notice/serval:BIB_77315235F9BBTest; urn:issn:0036-8075; https://serval.unil.ch/resource/serval:BIB_77315235F9BB.P002/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_77315235F9BB5Test

الإتاحة: https://doi.org/10.1126/science.aap8757Test
https://serval.unil.ch/notice/serval:BIB_77315235F9BBTest
https://serval.unil.ch/resource/serval:BIB_77315235F9BB.P002/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_77315235F9BB5Test

المؤلفون: Witoelar, A.W., Jansen, I.E., Wang, Y., Desikan, R.S., Gibbs, J.R., Blauwendraat, C., Thompson, W.K., Hernandez, D.G., Djurovic, S., Schork, A.J., Bettella, F., Ellinghaus, D., Franke, A., Lie, B.A., McEvoy, L.K., Karlsen, T.H., Lesage, S., Morris, H.R., Brice, A., Wood, N.W., Heutink, P., Hardy, J., Singleton, A.B., Dale, A.M., Gasser, T., Andreassen, O.A., Sharma, M., Nalls, M.A., Plagnol, V., Sheerin, U.M., Saad, M., Simon-Sanchez, J., Schulte, C., Sveinbjörnsdóttir, S., Arepalli, S., Barker, R.A., Ben-Shlomo, Y., Berendse, H.W., Berg, D., Bhatia, K.P., de Bie, R.M.A., Biffi, A., Bloem, B., Bochdanovits, Z., Bonin, M., Bras, J.M., Brockmann, K., Brooks, J.M., Burn, D.J., Majounie, E., Illig, T., Lichtner, P., Weale, M.E.

المصدر: JAMA Neurol. 74, 780-792 (2017)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/2168-6149; info:eu-repo/semantics/altIdentifier/pissn/2168-6149; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51600Test; urn:isbn:2168-6149; urn:issn:2168-6149; urn:issn:2168-6157

الإتاحة: https://doi.org/10.1001/jamaneurol.2017.0469Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51600Test

المؤلفون: Lubbe, S.J., Escott-Price, Valentina, Brice, A., Gasser, T., Pittman, A.M., Bras, J., Hardy, J., Heutink, P., Wood, N.M., Singleton, A.B., Grosset, D.G., Carroll, C.B., Law, M.H., Demenais, F., Iles, M.M., Bishop, D.T., Newton-Bishop, J., Williams, N.M., Morris, H.R.

مصطلحات موضوعية: RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/96014/1/1-s2.0-S0197458016301506-main.pdfTest; Lubbe, S.J., Escott-Price, Valentina https://orca.cardiff.ac.uk/view/cardiffauthors/A015705M.htmlTest orcid:0000-0003-1784-5483 orcid:0000-0003-1784-5483, Brice, A., Gasser, T., Pittman, A.M., Bras, J., Hardy, J., Heutink, P., Wood, N.M., Singleton, A.B., Grosset, D.G., Carroll, C.B., Law, M.H., Demenais, F., Iles, M.M., Bishop, D.T., Newton-Bishop, J., Williams, N.M. and Morris, H.R. 2016. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiology of Aging 48 , 222.e1-222.e7. 10.1016/j.neurobiolaging.2016.07.013 https://doi.org/10.1016/j.neurobiolaging.2016.07.013Test file https://orca.cardiff.ac.uk/id/eprint/96014/1/1-s2.0-S0197458016301506-main.pdfTest

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2016.07.013Test
https://orca.cardiff.ac.uk/id/eprint/96014Test/
https://orca.cardiff.ac.uk/id/eprint/96014/1/1-s2.0-S0197458016301506-main.pdfTest

المؤلفون: Kiely, A.P., Ling, H., Asi, Y.T., Kara, E., Proukakis, C., Schapira, A.H., Morris, H.R., Roberts, H.C., Lubbe, S., Limousin, P., Lewis, P.A., Lees, A.J., Quinn, N., Hardy, J., Love, S., Revesz, T., Houlden, H, Holton, J.L.

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/384718/1/Distinct%2520clinical%2520and%2520neuropathological%2520features%2520of%2520G51D%2520SNCA%2520mutation%2520cases%2520compared%2520with%2520SNCA%2520duplication%2520and%2520H50Q%2520mutation.pdfTest; https://eprints.soton.ac.uk/384718/2/s13024-015-0038-3.pdfTest; https://eprints.soton.ac.uk/384718/3/s13024-015-0038-3.pdfTest; Kiely, A.P., Ling, H., Asi, Y.T., Kara, E., Proukakis, C., Schapira, A.H., Morris, H.R., Roberts, H.C., Lubbe, S., Limousin, P., Lewis, P.A., Lees, A.J., Quinn, N., Hardy, J., Love, S., Revesz, T., Houlden, H and Holton, J.L. (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration, 10, 1-17, [41]. (doi:10.1186/s13024-015-0038-3 ). (PMID:26306801 )

الإتاحة: https://doi.org/10.1186/s13024-015-0038-3Test
https://eprints.soton.ac.uk/384718Test/
https://eprints.soton.ac.uk/384718/1/Distinct%2520clinical%2520and%2520neuropathological%2520features%2520of%2520G51D%2520SNCA%2520mutation%2520cases%2520compared%2520with%2520SNCA%2520duplication%2520and%2520H50Q%2520mutation.pdfTest
https://eprints.soton.ac.uk/384718/2/s13024-015-0038-3.pdfTest
https://eprints.soton.ac.uk/384718/3/s13024-015-0038-3.pdfTest

المؤلفون: Swallow, D.M.A., Lawton, M.A., Grosset, K.A., Malek, N., Smith, C.R., Bajaj, N., Barker, R.A., Ben-Shlomo, Y., Burn, D.J., Foltynie, T., Morris, H.R., Williams, N., Wood, N.W., Grosset, D.G.

المصدر: Journal of the Neurological Sciences ; volume 357, page e289 ; ISSN 0022-510X

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1016/j.jns.2015.08.1007Test
https://api.elsevier.com/content/article/PII:S0022510X15015038?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X15015038?httpAccept=text/plainTest

المؤلفون: Chia R., Sabir M.S., Bandres-Ciga S., Saez-Atienzar S., Reynolds R.H., Gustavsson E., Walton R.L., Ahmed S., Viollet C., Ding J., Makarious M.B., Diez-Fairen M., Portley M.K., Shah Z., Abramzon Y., Hernandez D.G., Blauwendraat C., Stone D.J., Eicher J., Parkkinen L., Ansorge O., Clark L., Honig L.S., Marder K., Lemstra A., St George-Hyslop P., Londos E., Morgan K., Lashley T., Warner T.T., Jaunmuktane Z., Galasko D., Santana I., Tienari P.J., Myllykangas L., Oinas M., Cairns N.J., Morris J.C., Halliday G.M., Van Deerlin V.M., Trojanowski J.Q., Grassano M., Calvo A., Mora G., Canosa A., Floris G., Bohannan R.C., Brett F., Gan-Or Z., Geiger J.T., Moore A., May P., Krüger R., Goldstein D.S., Lopez G., Tayebi N., Sidransky E., Sotis A.R., Sukumar G., Alba C., Lott N., Martinez E.M.G., Tuck M., Singh J., Bacikova D., Zhang X., Hupalo D.N., Adeleye A., Wilkerson M.D., Pollard H.B., Norcliffe-Kaufmann L., Palma J.-A., Kaufmann H., Shakkottai V.G., Perkins M., Newell K.L., Gasser T., Schulte C., Landi F., Salvi E., Cusi D., Masliah E., Kim R.C., Caraway C.A., Monuki E.S., Brunetti M., Dawson T.M., Rosenthal L.S., Albert M.S., Pletnikova O., Troncoso J.C., Flanagan M.E., Mao Q., Bigio E.H., Rodríguez-Rodríguez E., Infante J., Lage C., González-Aramburu I., Sanchez-Juan P., Ghetti B., Keith J., Black S.E., Masellis M., Rogaeva E., Duyckaerts C., Brice A., Lesage S., Xiromerisiou G., Barrett M.J., Tilley B.S., Gentleman S., Logroscino G., Serrano G.E., Beach T.G., McKeith I.G., Thomas A.J., Attems J., Morris C.M., Palmer L., Love S., Troakes C., Al-Sarraj S., Hodges A.K., Aarsland D., Klein G., Kaiser S.M., Woltjer R., Pastor P., Bekris L.M., Leverenz J.B., Besser L.M., Kuzma A., Renton A.E., Goate A., Bennett D.A., Scherzer C.R., Morris H.R., Ferrari R., Albani D., Pickering-Brown S., Faber K., Kukull W.A., Morenas-Rodriguez E., Lleó A., Fortea J., Alcolea D., Clarimon J., Nalls M.A., Ferrucci L., Resnick S.M., Tanaka T., Foroud T.M., Graff-Radford N.R., Wszolek Z.K., Ferman T., Boeve B.F., Hardy J.A., Topol E.J., Torkamani A., Singleton A.B., Ryten M., Dickson D.W., Chiò A., Ross O.A., Gibbs J.R., Dalgard C.L., Traynor B.J., Scholz S.W., The American Genome Center

المصدر: Nature Genetics ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85101937262&doi=10.1038%2fs41588-021-00785-3&partnerID=40&md5=5a679c258f554487c1813fd3e8da6429Test

مصطلحات موضوعية: Alzheimer disease, Article, diffuse Lewy body disease, gene locus, gene mutation, gene sequence, genetic risk score, genetic susceptibility, genome analysis, genome-wide association study, human, Parkinson disease, priority journal, whole genome sequencing, case control study, clinical trial, gene expression profiling, genetic predisposition, genetics, human genome, multicenter study, single nucleotide polymorphism, alpha synuclein, BIN1 protein, GBA protein, glucosylceramidase, nuclear protein, signal transducing adaptor protein, SNCA protein, tumor suppressor protein

العلاقة: http://hdl.handle.net/11615/72797Test

الإتاحة: https://doi.org/10.1038/s41588-021-00785-3Test
http://hdl.handle.net/11615/72797Test

المؤلفون: Dewan, R., Chia, R., Ding, J.H., Hickman, R.A., Stein, T.D., Abramzon, Y., Ahmed, S., Sabir, M.S., Portley, M.K., Tucci, A., Ibanez, K., Shankaracharya, F.N.U., Keagle, P., Rossi, G., Caroppo, P., Tagliavini, F., Waldo, M.L., Johansson, P.M., Nilsson, C.F., Rowe, J.B., Benussi, L., Binetti, G., Ghidoni, R., Jabbari, E., Viollet, C., Glass, J.D., Singleton, A.B., Silani, V., Ross, O.A., Ryten, M., Torkamani, A., Tanaka, T., Ferrucci, L., Resnick, S.M., Pickering-Brown, S., Brady, C.B., Kowal, N., Hardy, J.A., Deerlin, V. van, Vonsattel, J.P., Harms, M.B., Morris, H.R., Ferrari, R., Landers, J.E., Chio, A., Gibbs, J.R., Dalgard, C.L., Scholz, S.W., Traynor, B.J., Amer Genome Ctr TAGC, FALS Sequencing Consortium, Genomics England Res Consortium, Int ALS FTD Genomics Consortium iA, Int FTD Genetics Consortium IFGC, Int LBD Genomics Consortium iLBDGC, NYGC ALS Consortium, PROSPECT Consortium

المصدر: Neuron

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S0896627320308837?via%3DihubTest; lumc-id: 121545064; https://hdl.handle.net/1887/3276287Test

الإتاحة: https://doi.org/10.1016/j.neuron.2020.11.005Test
https://hdl.handle.net/1887/3276287Test
https://www.sciencedirect.com/science/article/pii/S0896627320308837?via%3DihubTest

المؤلفون: Blauwendraat, C., Iwaki, H., Makarious, M.B., Bandres-Ciga, S., Leonard, H.L., Grenn, F.P., Lake, J., Krohn, L., Tan, M., Kim, J.J., Gibbs, J.R., Hernandez, D.G., Ruskey, J.A., Pihlstrom, L., Toft, M., Hilten, J.J. van, Marinus, J., Schulte, C., Brockmann, K., Sharma, M., Siitonen, A., Majamaa, K., Eerola-Rautio, J., Tienari, P.J., Grosset, D.G., Lesage, S., Corvol, J.C., Brice, A., Wood, N., Hardy, J., Gan-Or, Z., Heutink, P., Gasser, T., Morris, H.R., Noyce, A.J., Nalls, M.A., Singleton, A.B., Int Parkinsons Dis Genomics Consor

المصدر: Annals of Neurology

وصف الملف: application/pdf

العلاقة: lumc-id: 122194027; https://hdl.handle.net/1887/3249472Test

الإتاحة: https://doi.org/10.1002/ana.26090Test
https://hdl.handle.net/1887/3249472Test