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Page 1
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: skrzypiec ae. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651
Neuropsin cleaves EphB2 in the amygdala to control anxiety.
Attwood BK, Bourgognon JM, Patel S, Mucha M, Schiavon E, Skrzypiec AE, Young KW, Shiosaka S, Korostynski M, Piechota M, Przewlocki R, Pawlak R. Attwood BK, et al. Among authors: skrzypiec ae. Nature. 2011 May 19;473(7347):372-5. doi: 10.1038/nature09938. Epub 2011 Apr 20. Nature. 2011. PMID: 21508957 Free PMC article.
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH. Baple EL, et al. Am J Hum Genet. 2014 Jan 2;94(1):87-94. doi: 10.1016/j.ajhg.2013.10.001. Epub 2013 Nov 14. Am J Hum Genet. 2014. PMID: 24239382 Free PMC article.
miR-483-5p offsets functional and behavioural effects of stress in male mice through synapse-targeted repression of Pgap2 in the basolateral amygdala.
Mucha M, Skrzypiec AE, Kolenchery JB, Brambilla V, Patel S, Labrador-Ramos A, Kudla L, Murrall K, Skene N, Dymicka-Piekarska V, Klejman A, Przewlocki R, Mosienko V, Pawlak R. Mucha M, et al. Among authors: skrzypiec ae. Nat Commun. 2023 Apr 25;14(1):2134. doi: 10.1038/s41467-023-37688-2. Nat Commun. 2023. PMID: 37185241 Free PMC article.
14 results