Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Galizia, Elizabeth C"'
Autor:
Galizia, Elizabeth C., Srikantha, Maithili, Palmer, Rodger, Waters, Jonathan J., Lench, Nicholas, Ogilvie, Caroline Mackie, Kasperavičiūtė, Dalia, Nashef, Lina, Sisodiya, Sanjay M.
Publikováno v:
In European Journal of Medical Genetics May 2012 55(5):342-348
Autor:
Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Zara, Federico, Striano, Pasquale, Camila, V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M
Publikováno v:
Brain
Galizia, E C, Myers, C T, Leu, C, de Kovel, C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Scopus-Elsevier
Brain, 138, 1198. Oxford University Press
Galizia, E C, Myers, C T, Leu, C, de Kovel, C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Scopus-Elsevier
Brain, 138, 1198. Oxford University Press
Photosensitivity in epilepsy is common and has high heritability, but its genetic basis remains uncertain. Galizia et al. reveal an overrepresentation of unique variants of CHD2 — which encodes the transcriptional regulator ‘chromodomain helicase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fcb236cd2f91be37e81fb911a4fd3e68
http://europepmc.org/articles/PMC4407192
http://europepmc.org/articles/PMC4407192
Publikováno v:
In Neuromuscular Disorders April 2011 21(4):279-281