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pro vyhledávání: '"Andermann, E"'
Akademický článek
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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
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
http://hdl.handle.net/11567/1080622
Akademický článek
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Autor:
Battino, D *, Kaneko, S, Andermann, E, Avanzini, G, Canevini, M.P, Canger, R, Croci, D, Fumarola, C, Guidolin, L, Mamoli, D, Molteni, F, Pardi, G, Vignoli, A, Fukushima, Y, Kan, R, Takeda, A, Nakane, Y, Ogawa, Y, Dansky, L, Oguni, M, Lopez-Ciendas, I, Sherwin, A, Andermann, F, Seni, M.-H, Otani, K, Teranishi, T, Goto, M
Publikováno v:
In Epilepsy Research 1999 36(1):53-60
Autor:
Kaneko, S a, *, Battino, D c, Andermann, E d, Wada, K a, Kan, R e, Takeda, A f, Nakane, Y g, Ogawa, Y b, Avanzini, G c, Fumarola, C h, Granata, T c, Molteni, F h, Pardi, G h, Minotti, L h, Canger, R i, Dansky, L d, Oguni, M d, Lopes-Cendas, I d, Sherwin, A d, Andermann, F d, Seni, M.-H d, Okada, M a, Teranishi, T j
Publikováno v:
In Epilepsy Research 1999 33(2):145-158
Autor:
Andermann, E., Anna Jansen, Al-Asmi, A., Dobson-Stone, C., Monaco, A. P., Lang, A., Robert, F., Badhwar, A., Mercho, S., Dubeau, F., Danek, A., Andermann, F.
Publikováno v:
ResearcherID
Purpose: Chorea-acanthocytosis (CHAC) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21, and characterised by neurodegeneration and acanthocytosis. Seizures are not uncommon in CHAC, but have not been well characteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::810708ac235294a29b4e7f87be984251
https://ora.ox.ac.uk/objects/uuid:4423e0ab-2447-49ef-b036-1cc2faebb941
https://ora.ox.ac.uk/objects/uuid:4423e0ab-2447-49ef-b036-1cc2faebb941
Autor:
Ptacek, Louis, Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G
Publikováno v:
Ptacek, Louis; Viollet, L; Glusman, G; Murphy, KJ; Newcomb, TM; Reyna, SP; et al.(2015). Alternating hemiplegia of childhood: Retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/5g44z546
© 2015 Viollet et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::c3ac560bcc2d73248153455efcc04f75
http://www.escholarship.org/uc/item/5g44z546
http://www.escholarship.org/uc/item/5g44z546
Autor:
Walker RH, Danek A, Dobson-Stone C, Guerrini R, Jung HH, Lafontaine AL, Rampoldi L, Tison F, Andermann E
As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of "neuroacanthocytosis" has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10495::8213194e197e7143031fee7aea7e3206