Univerricht‐Lundborg Disease: Underdiagnosed in the Netherlands
De Haan, Gerrit‐Jan, Halley, Dicky J.J., Doelman, Jan C., Geesink, Huibert H., Augustijn, Paul B., Jager‐Jongkind, Anke D., Majoie, Marianne, Bader, Adri J., Doeschate, Lian A.W.M. Leliefeld‐ten, Deelen, Wout H., Bertram, Ed, Lehesjoki, Anna E., Lindhout, Dick
Published in Epilepsia (Copenhagen) (01.09.2004)
Published in Epilepsia (Copenhagen) (01.09.2004)
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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
Kovel, Carolien G.F., Brilstra, Eva H., Kempen, Marjan J.A., Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber
Published in Molecular genetics & genomic medicine (01.09.2016)
Published in Molecular genetics & genomic medicine (01.09.2016)
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Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation
COPPOLA, Giovanni, CRISCUOLO, Chiara, SCARANO, Valentina, D'ADAMO, Adamo P, BANFI, Sandro, GASPARINI, Paolo, SANTORELLI, Filippo M, LEHESJOKI, Anna E, FILLA, Alessandro, DE MICHELE, Giuseppe, STRIANO, Salvatore, BARBIERI, Fabrizio, STRIANO, Pasquale, PERRETTI, Anna, SANTORO, Lucio, MORRA, Vincenzo Brescia, SACCA, Francesco
Published in Journal of neurology (01.08.2005)
Published in Journal of neurology (01.08.2005)
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