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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Corbett MA, et al. Among authors: van coller r, van rootselaar af, van den maagdenberg amjm. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
Myoclonus in comatose patients with electrographic status epilepticus after cardiac arrest: Corresponding EEG patterns, effects of treatment and outcomes.
Nutma S, Ruijter BJ, Beishuizen A, Tromp SC, Scholten E, Horn J, van den Bergh WM, van Kranen-Mastenbroek VH, Thomeer EC, Moudrous W, Aries M, van Putten MJ, Hofmeijer J; TELSTAR Investigators. Nutma S, et al. Resuscitation. 2023 May;186:109745. doi: 10.1016/j.resuscitation.2023.109745. Epub 2023 Feb 22. Resuscitation. 2023. PMID: 36822459 Clinical Trial.
The paroxysmal dyskinesias.
van Rootselaar AF, Schade van Westrum S, Velis DN, Tijssen MA. van Rootselaar AF, et al. Pract Neurol. 2009 Apr;9(2):102-9. doi: 10.1136/jnnp.2009.172213. Pract Neurol. 2009. PMID: 19289562 Review.
99 results