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Page 1
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. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Among authors: van coller r. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
Efficacy of deep brain stimulation of the anterior-medial globus pallidus internus in tic and non-tic related symptomatology in refractory Tourette syndrome.
Kisten R, van Coller R, Cassimjee N, Lubbe E, Vaidyanathan J, Slabbert P, Enslin N, Schutte C. Kisten R, et al. Among authors: van coller r. Clin Park Relat Disord. 2022 Aug 3;7:100159. doi: 10.1016/j.prdoa.2022.100159. eCollection 2022. Clin Park Relat Disord. 2022. PMID: 35990793 Free PMC article.
Awaking a sleeping epidemic.
van Coller R, van Rensburg E, Schutte C, Brink D, Welthagen G, Dove MG. van Coller R, et al. Among authors: van rensburg e. S Afr Med J. 2007 Apr;97(4):250-1. S Afr Med J. 2007. PMID: 17446947 No abstract available.
21 results