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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
D'Adamo MC, Hasan S, Guglielmi L, Servettini I, Cenciarini M, Catacuzzeno L, Franciolini F. D'Adamo MC, et al. Among authors: cenciarini m. Front Cell Neurosci. 2015 Aug 19;9:317. doi: 10.3389/fncel.2015.00317. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26347608 Free PMC article. Review.
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Stendel C, D'Adamo MC, Wiessner M, Dusl M, Cenciarini M, Belia S, Nematian-Ardestani E, Bauer P, Senderek J, Klopstock T, Pessia M. Stendel C, et al. Among authors: cenciarini m. Int J Mol Sci. 2020 May 27;21(11):3810. doi: 10.3390/ijms21113810. Int J Mol Sci. 2020. PMID: 32471306 Free PMC article.
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC. Hasan S, et al. Among authors: cenciarini m. J Neurophysiol. 2017 Oct 1;118(4):2402-2411. doi: 10.1152/jn.00284.2017. Epub 2017 Jul 26. J Neurophysiol. 2017. PMID: 28747464 Free PMC article.