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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.
Licchetta L, Bruschi G, Stipa C, Belotti LMB, Ferri L, Mostacci B, Vignatelli L, Minardi R, Di Vito L, Muccioli L, Boni A, Tinuper P, Bisulli F. Licchetta L, et al. Among authors: tinuper p. Epilepsy Behav. 2024 Apr;153:109688. doi: 10.1016/j.yebeh.2024.109688. Epub 2024 Feb 29. Epilepsy Behav. 2024. PMID: 38428171
Fingerprick volumetric absorptive microsampling for therapeutic drug monitoring of antiseizure medications: Reliability and real-life feasibility in epilepsy patients.
Cancellerini C, Belotti LMB, Mohamed S, Solda' M, Esposito E, Bisulli F, Mostacci B, Vignatelli L, Tinuper P, Contin M, Licchetta L; Tele-Epic study group: Elisa Baldin, Raschi Emanuel, Marina Trivisano, Lidia Di Vito, Lorenzo Ferri, Cristina Filosomi, Nicola Specchio, Federico Vigevano, Eleonora Matteo. Cancellerini C, et al. Among authors: tinuper p. J Pharm Biomed Anal. 2024 May 15;242:116065. doi: 10.1016/j.jpba.2024.116065. Epub 2024 Feb 21. J Pharm Biomed Anal. 2024. PMID: 38401349
337 results