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Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: zara f. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Inherited neuromyotonia: a clinical and genetic study of a family.
Falace A, Striano P, Manganelli F, Coppola A, Striano S, Minetti C, Zara F. Falace A, et al. Among authors: zara f. Neuromuscul Disord. 2007 Jan;17(1):23-7. doi: 10.1016/j.nmd.2006.09.014. Epub 2006 Nov 30. Neuromuscul Disord. 2007. PMID: 17140792
Re: Fame 3: a novel form of progressive myoclonus and epilepsy.
Striano P, Striano S, Zara F. Striano P, et al. Among authors: zara f. Neurology. 2008 Jan 1;70(1):85; author reply 85-6. doi: 10.1212/01.wnl.0000295707.90283.e6. Neurology. 2008. PMID: 18166714 No abstract available.
Typical progression of myoclonic epilepsy of the Lafora type: a case report.
Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-De Caro ML, Striano S, Minassian BA. Striano P, et al. Among authors: zara f. Nat Clin Pract Neurol. 2008 Feb;4(2):106-11. doi: 10.1038/ncpneuro0706. Nat Clin Pract Neurol. 2008. PMID: 18256682
509 results