Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

Autor: van Rheenen, W, van der Spek, RAA, Bakker, MK, van Vugt, JJFA, Hop, PJ, Zwamborn, RAJ, de Klein, N, Westra, HJ, Bakker, OB, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, AM, Gawor, K, Westeneng, HJ, Tazelaar, GHP, van Eijk, KR, Kooyman, M, Byrne, RP, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, BN, Gromicho, M, Chandran, S, Pal, S, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Sendtner, M, Meyer, T, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, RH, Bell, S, Vourc'h, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Pardina, JMS, Assialioui, A, Rojas-Garcia, R, Dion, PA, Ross, JP, Ludolph, AC, Weishaupt, JH, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, CAM, Saker-Delye, S, Wood, NW, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, DC, Olsen, CM, Uitterlinden, AG, Hofman, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium

Publikováno v: NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::14d0bed056ea6e9b6c5550b9e67e8ce3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8163

CHCHD10 variants in amyotrophic lateral sclerosis: where is the evidence?

Autor: Tazelaar, GHP, van Rheenen, W, Pulit, SL, van der Spek, RAA, Dekker, AM, Moisse, M, McLaughlin, RL, Sproviero, W, Kenna, KP, Kooyman, M, van Doormaal, PTC, van Eijk, KE, Middelkoop, BM, Schellevis, RD, Brands, WJ, Al-Chalabi, A, Morrison, KE, Shaw, PJ, Shaw, CE, Newhouse, SE, van Es, MA, Basak, AN, Akçimen, F, Kocoglu, C, Tunca, C, Povedano, M, Mora, JS, Glass, JD, Van Damme, P, Robberecht, W, HardimanMD, O, Landers, JE, van den Berg, LH, Veldink, JH

© 2018 American Neurological Association Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6822f0c8d0228b9641fa10e04b8adf79
https://eprints.soton.ac.uk/425106/

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

Autor: Kiemeney, La, Sulem, P, Besenbacher, S, Vermeulen, Sh, Sigurdsson, A, Thorleifsson, G, Stacey, Sn, Gudmundsson, J, Zanon, C, Kostic, J, Bjarnason, H, Palsson, St, Skarpheoinsson, Ob, Gudjonsson, Sa, Witjes, Ja, Grotenhuis, Aj, Vehaegh, Gw, Bishop, Dt, CHUNG SAK, S, Choudhury, A, Elliott, F, Barrett, Jh, Hurst, Cd, DE VERDIER PK, Rudnai, P, Gurzau, E, Koppova, K, Vineis, P, Polidoro, S, Guarrera, S, Sacerdote, C, Campagna, Marcello, Placidi, Donatella, Arici, Cecilia, Zeegers, Mp, Kellen, E, SAEZ GUTIERREZ, B, SANZ VELEZ JI, SANCHEZ ZALABARDO, M, Valdivia, G, GARCIA PRATS MD, Hengstler, Jg, Blaszkewicz, M, Dietrich, H, Ophoff, Ra, VA DEN BERG LH, Aleiusdottir, K, Kristjansson, K, Geirsson, G, Nikulasson, S, Petursdottir, V, Kong, A, Thorgeirsson, T, Mungan, Na, Lindblom, A, VAN ES MA, Porru, Stefano, Buntinx, F, Golka, K, Mayordomo, Ji, Kumar, R, Matullo, G, Steineck, G, Kiltie, Ae, Aben, Kkh, Jonsson, E, Thorsteinsdottir, U, Knowles, Ma, Rafnar, T, Stefansson, K.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1cd4a3e644bd5be9f018511b08f45fe
http://hdl.handle.net/11562/956296

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A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.

Autor: Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, Van den Berg LH, Figlewicz DA, Andersen PM, Al-Chalabi A, Hardiman O

Publikováno v: Neurology; 7/7/2009, Vol. 73 Issue 1, p16-24, 9p