Výsledky vyhledávání

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Autor: Bandres‐Ciga, S, Noyce, AJ, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Arosio, A, Barberis, M, Bartolomei, I, Battistini, S, Benigni, M, Borghero, G, Brunetti, M, Cammarosano, S, Cannas, A, Canosa, A, Capasso, M, Caponnetto, C, Caredda, C, Carrera, P, Casale, F, Cavallaro, S, Chiò, A, Colletti, T, Conforti, FL, Conte, A, Corrado, L, Costantino, E, D'Alfonso, S, Fasano, A, Femiano, C, Ferrarese, C, Fini, N, Floris, G, Fuda, G, Giannini, F, Grassano, M, Ilardi, A, La Bella, V, Lattante, S, Logroscino, G, Logullo, FO, Loi, D, Lunetta, C, Mancardi, G, Mandich, P, Mandrioli, J, Manera, U, Marangi, G, Marinou, K, Marrali, G, Marrosu, MG, Mazzini, L, Melis, M, Messina, S, Moglia, C, Monsurro, MR, Mosca, L, Occhineri, P, Origone, P, Pani, C, Penco, S, Petrucci, A, Piccirillo, G, Pirisi, A, Pisano, F, Pugliatti, M, Restagno, G, Ricci, C, Rita Murru, M, Riva, N, Sabatelli, M, Salvi, F, Santarelli, M, Sideri, R, Simone, I, Spataro, R, Tanel, R, Tedeschi, G, Tranquilli, S, Tremolizzo, L, Trojsi, F, Volanti, P, Zollino, M, Abramzon, Y, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Chia, R, Cooper‐Knock, J, Cusi, D, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, Faghri, F, Feldman, E, Kay Floeter, M, Fratta, P, Geiger, JT, Gerhard, G, Gibbs, JR, Gibson, SB, Glass, JD, Hardy, J, Harms, MB, Heiman‐Patterson, TD, Hernandez, DG, Jansson, L, Kamel, F, Kirby, J, Kowall, NW, Laaksovirta, H, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering‐Brown, S, Pioro, E, Pliner, HA, Pulst, SM, Ravits, JM, Renton, AE, Rivera, A, Robbrecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Salvi, E, Scholz, SW, Sendtner, M, Shaw, PJ, Sidle, KC, Simmons, Z, Singleton, AB, Stone, DC, Sulkava, R, Tienari, PJ, Traynor, BJ, Trojanowski, JQ, Troncoso, JC, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Stone, DJ

Publikováno v: Annals of neurology 85 (2019): 470–481. doi:10.1002/ana.25431
info:cnr-pdr/source/autori:Bandres-Ciga S; Noyce AJ; Hemani G; Nicolas A; Calvo A; Mora G; Arosio A; Barberis M; Bartolomei I; Battistini S; Benigni M; Borghero G; Brunetti M; Cammarosano S; Cannas A; Canosa A; Capasso M; Caponnetto C; Caredda C; Carrera P; Casale F; Cavallaro S; Chiò A; Colletti T; Conforti FL; Conte A; Corrado L; Costantino E; D'Alfonso S; Fasano A; Femiano C; Ferrarese C; Fini N; Floris G; Fuda G; Giannini F; Grassano M; Ilardi A; La Bella V; Lattante S; Logroscino G; Logullo FO; Loi D; Lunetta C; Mancardi G; Mandich P; Mandrioli J; Manera U; Marangi G; Marinou K; Marrali G; Marrosu MG; Mazzini L; Melis M; Messina S; Moglia C; Monsurro MR; Mosca L; Occhineri P; Origone P; Pani C; Penco S; Petrucci A; Piccirillo G; Pirisi A; Pisano F; Pugliatti M; Restagno G; Ricci C; Rita Murru M; Riva N; Sabatelli M; Salvi F; Santarelli M; Sideri R; Simone I; Spataro R; Tanel R; Tedeschi G; Tranquilli S; Tremolizzo L; Trojsi F; Volanti P; Zollino M; Abramzon Y; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Cusi D; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; Faghri F; Feldman E; Kay Floeter M; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kamel F; Kirby J; Kowall NW; Laaksovirta H; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro E; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robbrecht W; Rogaeva E; Rollinson S; Rothstein JD; Salvi E; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Stone DC; Sulkava R; Tienari PJ; Traynor BJ; Trojanowski JQ; Troncoso JC; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Stone DJ;/titolo:Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis/doi:10.1002%2Fana.25431/rivista:Annals of neurology/anno:2019/pagina_da:470/pagina_a:481/intervallo_pagine:470–481/volume:85
2019, ' Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis ', Annals of Neurology, vol. 85, no. 4, pp. 470-481 . https://doi.org/10.1002/ana.25431
Annals of Neurology
Annals of Neurology, Wiley, 2019, 85 (4), pp.470-481. ⟨10.1002/ana.25431⟩

OBJECTIVE: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). METHODS: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ec44e96e87becc7f1c928039052519
http://hdl.handle.net/11591/406432

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Autor: Renton, Ae, Majounie, E, Waite, A, Simón Sánchez, J, Rollinson, S, Gibbs, Jr, Schymick, Jc, Laaksovirta, H, van Swieten, Jc, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, Am, Kaganovich, A, Scholz, Sw, Duckworth, J, Ding, J, Harmer, Dw, Hernandez, Dg, Johnson, Jo, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, Rj, Orrell, Rw, Neal, J, Murray, A, Pearson, J, Jansen, Ie, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, Jb, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, Ma, Peuralinna, T, Jansson, L, Isoviita, Vm, Kaivorinne, Al, Hölttä Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chiò, A, Restagno, G, Borghero, G, Sabatelli, M, Italsgen, Consortium, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, Jd, Sendtner, M, Drepper, C, Eichler, Ee, Alkan, C, Abdullaev, Z, Pack, Sd, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, Nm, Heutink, P, Pickering Brown, S, Morris, Hr, Tienari, Pj, Traynor, Bj, Calvo, A, Cammarosano, S, Moglia, C, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Mora, G, Marinou, K, Papetti, L, Conte, A, Luigetti, M, La Bella, V, Spataro, R, Colletti, T, Battistini, S, Giannini, Fabio, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Corbo, M, Lunetta, C, Penco, S, Monsurrò, Mr, Tedeschi, G, Conforti, Fl, Volanti, P, Floris, G, Cannas, A, Piras, V, Murru, Mr, Marrosu, Mg, Pugliatti, M, Ticca, A, Simone, I, Logroscino, G

Publikováno v: Renton, A E, Majounie, E, Waite, A, Simon-Sanchez, J, Rollinson, S, Gibbs, J R, Schymick, J C, Laaksovirta, H, van Swieten, J C, Myllykangas, L, Kalimo, H, Paetau, A, Abramzon, Y, Remes, A M, Kaganovich, A, Scholz, S W, Duckworth, J, Ding, J H, Harmer, D W, Hernandez, D G, Johnson, J O, Mok, K, Ryten, M, Trabzuni, D, Guerreiro, R J, Orrell, R W, Neal, J, Murray, A, Pearson, J, Jansen, I E, Sondervan, D, Seelaar, H, Blake, D, Young, K, Halliwell, N, Callister, J B, Toulson, G, Richardson, A, Gerhard, A, Snowden, J, Mann, D, Neary, D, Nalls, M A, Peuralinna, T, Jansson, L, Isoviita, V M, Kaivorinne, A L, Holtta-Vuori, M, Ikonen, E, Sulkava, R, Benatar, M, Wuu, J, Chio, A, Restagno, G, Borghero, G, Sabatelli, M, Heckerman, D, Rogaeva, E, Zinman, L, Rothstein, J D, Sendtner, M, Drepper, C, Eichler, E E, Alkan, C, Abdullaev, Z, Pack, S D, Dutra, A, Pak, E, Hardy, J, Singleton, A, Williams, N M, Heutink, P, Pickering-Brown, S, Morris, H R, Tienari, P J & Traynor, B J 2011, ' A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD ', Neuron, vol. 72, no. 2, pp. 257-268 . https://doi.org/10.1016/j.neuron.2011.09.010
Neuron, 72(2), 257-268. Cell Press
Neuron; Vol 72
Neuron (Camb. Mass.) (2011).
info:cnr-pdr/source/autori:Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. (2011)./titolo:A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD./doi:/rivista:Neuron (Camb. Mass.)/anno:2011/pagina_da:/pagina_a:/intervallo_pagine:/volume

The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b07cff1d47edca42efbe09a4bba74b4
https://research.vu.nl/en/publications/43ac1167-0bfb-43c8-a246-50dcf9310208

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