Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery

Autor: Gwinn, K, Corriveau, RA, Mitsumoto, H, Bednarz, K, Brown, RH, Cudkowicz, M, Gordon, PH, Hardy, J, Kasarskis, EJ, Kaufmann, P, Miller, R, Sorenson, E, Tandan, R, Traynor, BJ, Nash, J, Sherman, A, Mailman, MD, Ostell, J, Bruijn, L, Cwik, V, Rich, SS, Singleton, A, Refolo, L, Andrews, J, Zhang, R, Conwit, R, Keller, MA, Lomen-Hoerth, C, Simmons, Z, Newman, DS, Barohn, RJ, Crum, B, Stevens, JC, Simpson, EP, Boylan, KB, McCluskey, L, Bedlack, RS, Bosch, EP, Barkhaus, PE, Dibernardo, A, Caress, JB, Lacomis, D, Pestronk, A, Shefner, JM, Maragakis, NJ, Heitzman, D, Goslin, KL, Jackson, CE, Glass, JD, Mozaffar, T, Bertorini, TE, Chad, DA, Trivedi, JR, Rezania, K, Heiman-Patterson, TD, Gutmann, L, Rosenfeld, J, Brooks, BR, Hayat, G, Chapin, JE, Rudnicki, SA, Harati, Y, Rana, SS, Verma, A, Russell, JA, Pioro, EP, Thornton, CA, Sams, L, Kelly, J, Bayat, E, Kelkar, PM, Shivapour, ET, Scelsa, SN, Walk, D, Peltier, AC, Sachs, G, Belsh, JM, Graves, MC, Thakore, NJ, Brent, HT, Cho, C, Wymer, JP, Lou, JS, Weiss, MD, Carter, GS, Armon, C, Vidic, TR, Bromberg, MB, Lange, DJ

Publikováno v: Gwinn, K; Corriveau, RA; Mitsumoto, H; Bednarz, K; Brown, RH; Cudkowicz, M; et al.(2007). Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery. PLoS ONE, 2(12). doi: 10.1371/journal.pone.0001254. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/72f206h8

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::37c2b1212059b9e75001824540e05813
http://www.escholarship.org/uc/item/72f206h8

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1)

Autor: Gonzalez, I, Ohsawa, N, Singer, Rh, Devillers, M, Ashizawa, T, Balasubramanyam, A, Cooper, Ta, Khajavi, M, LIA BALDINI AS, Miller, G, Philips, Av, Timchenko, Lt, Waring, J, Yamagata, H, Barbet, Jp, Klesert, Tr, Tapscott, Sj, Roses, Ad, Wagner, M, Baiget, M, Martorell, L, Browne, Gb, Eymard, B, Gourdon, G, Junien, C, Seznec, H, Carey, N, Gosling, M, Maire, P, Gennarelli, M, Sato, S, Ansved, T, Kvist, U, Eriksson, M, Furling, D, Chen, Ej, Housman, De, Luciano, B, Siciliano, M, Spring, N, Shimizu, M, Eddy, E, Morris, Ge, Krahe, R, Furuya, H, Adelman, J, Pribnow, D, Furutama, D, Mathieu, J, HILTON JONES, D, Kinoshita, M, Abbruzzese, C, Sinden, Rr, Wells, Rd, Pearson, Ce, Kobayashi, T, Johansson, A, Salvatori, Sergio, Perryman, B, Swanson, Ms, Gould, Fk, Harris, Se, Johnson, K, Mitchell, Am, Monckton, Dg, Winchester, Cl, Antonini, G, Day, Jw, Liquori, C, Ranum, Lpw, Westerlaken, J, Wieringa, B, Griffith, Jd, Michalowski, S, Moore, H, Hamshere, M, Korade, Z, Thornton, Ca, Jaeger, H, Lehmann, F, Moorman, Jr, Mounsey, Jp, Mahadevan, Ms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::9930c83b3c780981e51897a223be48f3
http://hdl.handle.net/11577/111540

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