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Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Autor: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F.

Publikováno v: Epilepsia
Epilepsia : the journal of the International League Against Epilepsy 63(3), 723-735 (2022). doi:10.1111/epi.17166
Epilepsia, vol 63, iss 3

ObjectiveWe aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7ae19c74c6656815103b75a8ec9b7f
http://hdl.handle.net/11567/1080622

1 H-[ 13 C] NMR Measurements of [4- 13 C]Glutamate Turnover in Human Brain

Autor: Rothman, D. L., Novotny, E. J., Shulman, G. I., Howseman, A. M., Petroff, O. A. C., Mason, G., Nixon, T., Hanstock, C. C., Prichard, J. W., Shulman, R. G.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1992 Oct . 89(20), 9603-9606.

Externí odkaz: https://www.jstor.org/stable/2360449

New applications of low field NMR in soil science

Autor: NOVOTNY, E. H., GALVOSAS, P.

Publikováno v: Repositório de Informação Tecnológica da Embrapa (Infoteca-e)
Empresa Brasileira de Pesquisa Agropecuária (Embrapa)
instacron:EMBRAPA

Despite the wide application of low field NMR in different fields, from petrophysics to food science and industry, its use in Soil Science is still inconspicuous. To demonstrate opportunities for low field NMR in this area we will present a few examp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::62f086e744b0b631d067cbb1d12a9c76
http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1127172

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