Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Autor: Wang, L, Aasly, J, Annesi, G, Bardien, S, Bozi, M, Brice, A, Carr, J, Chung, S, Clarke, C, Crosiers, D, Deutschländer, A, Eckstein, G, Farrer, M, Goldwurm, S, Garraux, G, Hadjigeorgiou, G, Hicks, A, Hattori, N, Klein, C, Jeon, B, Kim, Y, Lesage, S, Lin, J, Lynch, T, Lichtner, P, Lang, A, Mok, V, Jasinska-Myga, B, Mellick, G, Morrison, K, Opala, G, Pihlstrøm, L, Pramstaller, P, Park, S, Quattrone, A, Rogaeva, E, Ross, O, Stefanis, L, Stockton, J, Silburn, P, Theuns, J, Tan, E, Tomiyama, H, Toft, M, Van Broeckhoven, C, Uitti, R, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yueh, K, Zhao, Y, Gasser, T, Maraganore, D, Krüger, R, Sharma, M, Boyle, RS, Sellbach, A, O'Sullivan, JD, Sutherland, GT, Siebert, GA, Dissanayaka, NN, Pickut, B, Engelborghs, S, Meeus, B, De Deyn, PP, Cras, P, Lang, AE, Tzourio, C, Amouyel, P, Loriot, MA, Mutez, E, Duflot, A, Legendre, JP, Waucquier, N, Riess, O, Berg, D, Schulte, C, Djarmati, A, Hagenah, J, Lohman, K, Auburger, G, Hilker, R, van de Loo, S, Dardiotis, E, Tsimourtou, V, Ralli, S, Kountra, P, Patramani, G, Vogiatzi, C, Funayama, M, Yoshino, H, Li, Y, Imamichi, Y, Toda, T, Satake, W, Valente, EM, Ferraris, A, Dallapiccola, B, Ialongo, T, Brighina, L, Corradi, B, Ferrarese, C, Piolti, MR, Tarantino, P, Annesi, F, Gagliardi, M, Jeon, BS, Klodowska-Duda, G, Boczarska-Jedynak, M, Tan, EK, Belin, AC, Olson, L, Galter, D, Westerlund, M, Sydow, O, Nilsson, C, Puschmann, A, Lin, JJ, Maraganore, DM, Ahlskog, J, de Andrade, M, Lesnick, TG, Rocca, WA, Checkowa, H, Ross, OA, Wszolek, ZK, Uitti, RJ

Publikováno v: Neurology
Neurology (2015). doi:10.1212/WNL.0000000000002016
info:cnr-pdr/source/autori:Wang L1, Aasly JO1, Annesi G1, Bardien S1, Bozi M1, Brice A1, Carr J1, Chung SJ1, Clarke C1, Crosiers D1, Deutschländer A1, Eckstein G1, Farrer MJ1, Goldwurm S1, Garraux G1, Hadjigeorgiou GM1, Hicks AA1, Hattori N1, Klein C1, Jeon B1, Kim YJ1, Lesage S1, Lin JJ1, Lynch T1, Lichtner P1, Lang AE1, Mok V1, Jasinska-Myga B1, Mellick GD1, Morrison KE1, Opala G1, Pihlstrøm L1, Pramstaller PP1, Park SS1, Quattrone A1, Rogaeva E1, Ross OA1, Stefanis L1, Stockton JD1, Silburn PA1, Theuns J1, Tan EK1, Tomiyama H1, Toft M1, Van Broeckhoven C1, Uitti RJ1, Wirdefeldt K1, Wszolek Z1, Xiromerisiou G1, Yueh KC1, Zhao Y1, Gasser T1, Maraganore DM1, Krüger R1, Sharma M2; GEO-PD Consortium/titolo:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease/doi:10.1212%2FWNL.0000000000002016/rivista:Neurology/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume
ResearcherID

Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson9

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fe39026c7bfeb5ea42ba83a45644
https://doi.org/10.1212/wnl.0000000000002016

Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease

Autor: Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Kruger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC

Publikováno v: 296 (2006): 661–670.
info:cnr-pdr/source/autori:Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Kruger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC/titolo:Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease./doi:/rivista:/anno:2006/pagina_da:661/pagina_a:670/intervallo_pagine:661–670/volume:296

CONTEXT: Identification and replication of susceptibility genes for Parkinson disease at the population level have been hampered by small studies with potential biases. Alpha-synuclein (SNCA) has been one of the most promising susceptibility genes, b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::bad7ab230c2d5c16e21b53f0298797eb
http://www.cnr.it/prodotto/i/49983

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