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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
ArticleAbstract: Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disoPalabras claves:Autores:Alders M., Allen N.M., Arold S.T., Banka S., Banu S.H., Baptista J., Barakat T.S., Barge-Schaapveld D.Q.C.M., Baud R., Braddock S.R., Cardona-Londoño K.J., Chinn I.K., Crunk A., de Vries B.B.A., Deardorff M.A., Efthymiou S., Elloumi H.Z., Elting M.W., Galehdari H., Garza-Flores A., Gilissen C., Guerrini R., Guzmán-Vega F.J., Haghshenas S., Hamm J.A., Harrison V., Houlden H., Huang S., Jackson A., Järvelä I., Jewett T., Kehoe C.M., Keller-Ramey J., Kerkhof J., Kievit A., Klemp K.C., Koboldt D.C., Koning S., Lanko K., Lauronen L., Leal S.M., Lees M., Lin X., Luis Alberto Pedroza, Lupski J.R., Lynch S.A., Määttä T., Maroofian R., Mazaheri N., McBride K.L., McConkey H., McGlothlin J., Merritt J.L., Mirzaa G.M., Mohammed S., Monaghan K.G., Montomoli M., Mosher T.M., Pan Z., Pang L., Pastore M.T., Peeters-Scholte C.M.P.C.D., Peña-Guerra K.A., Peng J., Person R.E., Pfundt R., Polstra A.M., Putnam A.M., Quindipan C., Ramakrishnan R., Reich A., Robinson H.K., Rosso G., Ruivenkamp C.A.L., Ruzhnikov M.R.Z., Sadikovic B., Scheck J., Schenck L., Schrauwen I., Sisodiya S.M., Sun A., Thies J., Timms A.E., Turnpenny P.D., van Bever Y., van Gijn M.E., van Paassen B.W., van Slegtenhorst M., Vansenne F., Vetro A., Walsh L., Wang X., Weerts M.J.A., Willemsen M., Yana Lara-Taranchenko, Yang L., Zaman M.Fuentes:scopusPhysiological symmetry of transcranial magnetic stimulation-evoked EEG spectral features
ArticleAbstract: Transcranial magnetic stimulation (TMS)-evoked EEG potentials (TEPs) have been used to study the excPalabras claves:Brain stimulation, cortical excitability, Neurophysiology, symmetry, TMS-EEGAutores:Balestrini S., Comolatti R., D'Ambrosio S., Diego Jiménez-Jiménez, Fecchio M., Perulli M., Poole J., Silvennoinen K., Sisodiya S.M., Zagaglia S.Fuentes:scopusShort- and long-interval intracortical inhibition in EPM1 is related to genotype
ArticleAbstract: Objective: Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSPalabras claves:LICI, progressive myoclonic epilepsy, SICI, transcranial magnetic stimulation, Unverricht-Lundborg diseaseAutores:Balestrini S., D'Ambrosio S., Diego Jiménez-Jiménez, Hyppönen J., Julkunen P., Kälviäinen R., Karjalainen P.A., Mervaala E., Rissanen S.M., Rothwell J.C., Säisänen L., Silvennoinen K., Sisodiya S.M., Zagaglia S.Fuentes:scopus