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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: furia f. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: furia f. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
Sleep disorders in Cornelia de Lange syndrome.
Zambrelli E, Fossati C, Turner K, Taiana M, Vignoli A, Gervasini C, Russo S, Furia F, Masciadri M, Ajmone P, Kullman G, Canevini MP, Selicorni A. Zambrelli E, et al. Among authors: furia f. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):214-21. doi: 10.1002/ajmg.c.31497. Epub 2016 May 2. Am J Med Genet C Semin Med Genet. 2016. PMID: 27133889
A case of modern management of Morgagni-Adam-Stokes syndrome.
Negroni MS, Furia F, Bursi F, Canevini MP, Carugo S. Negroni MS, et al. Among authors: furia f. Clin Case Rep. 2019 Sep 30;7(12):2295-2299. doi: 10.1002/ccr3.2384. eCollection 2019 Dec. Clin Case Rep. 2019. PMID: 31893045 Free PMC article.
73 results