Prevalence of Machado-Joseph disease (MJD/SCA3) explained by migration and multiple founder effects

Autor: Martins, S., Costa, I. P. D., Giunti, P., Watanabe, M., Sasaki, H., Almeida, B. C., Amorim, A., Gaspar, C., Nicholson, G., Saraiva-Pereira, M. L., Tsuji, S., Li, Q., Chen, S., Landoure, G., Maciel, P., Zaltzman, R., Sharony, R., Zhou, Y., Barros, J., Loureiro, J. L., Cruz, V. T., Ruano, L., Brunt, E. R. P., Corral-Juan, M. Marc, Hsieh, M., Tranebjaerg, L., Olajumoke, O., Ogun, S. A., Finkel, M. F., Gordon, C., Cornejo-Olivas, M., Fischbeck, K., Matilla-Duenas, A., Volpini, V., Riess, O., Wu, Z., Rouleau, G. A., Jardim, L. B., Giovanni Stevanin, Brice, A., Coutinho, P., Soong, B., Ranum, L. P., Durr, A., Sequeiros, J.

Publikováno v: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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Web of Science
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a28b6668adcf3df2ca3b0f872c4c6fb
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4950

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

Autor: Ashizawa, T., Gonzales, I., Ohsawa, N., Singer, R. H., Devillers, M., Balasubramanyam, A., Cooper, T. A., Khajavi, M., Lia Baldini, A. S., Miller, G., Philips, A. V., Timchenko, L. T., Waring, J., Yamagata, H., Barbet, J. P., Klesert, T. R., Tapscott, S. J., Roses, A. D., Wagner, M., Baiget, M., Martorell, L., Browne, G. B., 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, E. J., Housman, D. E., Luciano, B., Siciliano, M., Spring, N., Shimizu, M., Eddy, E., Morris, G. E., Krahe, R., Furuya, H., Adelman, J., Pribnow, D., Furutama, D., Mathieu, J., Hilton, Jones, Kinoshita, D., Abbruzzese, M., Sinden, C., R. R., Wells, R. D., Pearson, C. E., Kobayashi, Johansson, T., Salvatori, A., Perryman, S., Swanson, B., Gould, M., F. K., Harris, S. E., Johnson, Mitchell, K., A. M., Monckton, D. G., Winchester, C. L., Antonini, Giovanni, Day, J. W., Liquori, C., Ranum, L. P. W., Westerlaken, J., Wieringa, B., Griffith, J. D., Michalowski, S., Moore, H., Hamshere, M., Korade, Z., Thornton, C. A., Jaeger, H., Lehmann, F., Moorman, J. R., Mounsey, J. P., Mahadevan, M. S.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::9b8dcd2562407e20261a9cb15b594d56
http://hdl.handle.net/11573/504028

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Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

Autor: Trudeau, M. M., Dalton, J. C., Day, J. W., Ranum, L. P. W., Meisler, M. H.

Publikováno v: Journal of Medical Genetics; Jun2006, Vol. 43 Issue 6, p527-530, 4p, 2 Diagrams, 1 Chart

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.

Autor: Day, J W, Ricker, K, Jacobsen, J F, Rasmussen, L J, Dick, K A, Kress, W, Schneider, C, Koch, M C, Beilman, G J, Harrison, A R, Dalton, J C, Ranum, L P W

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