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American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.
Molecular Neurobiology|May 5, 2025
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual DisabilityChiara Panicucci, Sara Casalini, Giovanni Fiorito, et al.
Journal of Neurology|April 9, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri, Denise Cassandrini, Francesca Pinto, et al.
Epilepsy Research|April 30, 2023
A comprehensive narrative review of epilepsy with eyelid myocloniaKelsey M Smith, Elaine C Wirrell, Danielle M Andrade, et al.
Epilepsia|May 12, 2006
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five casesMaurizio Elia, Pasquale Striano, Marco Fichera, et al.
Epilepsy Research|March 30, 2013
Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutationPasquale Parisi, Antonio Oliva, Monica Coll Vidal, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 1, 2026
Reevaluating isolated central apnea in early-term and term newborns: A neurological red flag for perinatal strokeAndrea Calandrino, Marcella Battaglini, Samuele Caruggi, et al.
Seizure|April 8, 2021
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European studyFederico Raviglione, Sofia Douzgou, Marcello Scala, et al.
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