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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE. El Ghaleb Y, et al. Among authors: tuluc p. Brain. 2021 Aug 17;144(7):2092-2106. doi: 10.1093/brain/awab101. Brain. 2021. PMID: 33704440 Free PMC article.
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.
Calorio C, Gavello D, Guarina L, Salio C, Sassoè-Pognetto M, Riganti C, Bianchi FT, Hofer NT, Tuluc P, Obermair GJ, Defilippi P, Balzac F, Turco E, Bett GC, Rasmusson RL, Carbone E. Calorio C, et al. Among authors: tuluc p. J Physiol. 2019 Mar;597(6):1705-1733. doi: 10.1113/JP277487. Epub 2019 Jan 28. J Physiol. 2019. PMID: 30629744 Free PMC article.
43 results