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TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A. Dentici ML, et al. Among authors: maglione v. Am J Med Genet A. 2020 Aug;182(8):1977-1984. doi: 10.1002/ajmg.a.61719. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573066
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Liquori CL, et al. Among authors: maglione v. Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17. Am J Hum Genet. 2003. PMID: 14624391 Free PMC article.
The gender effect in juvenile Huntington disease patients of Italian origin.
Cannella M, Gellera C, Maglione V, Giallonardo P, Cislaghi G, Muglia M, Quattrone A, Pierelli F, Di Donato S, Squitieri F. Cannella M, et al. Among authors: maglione v. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):92-8. doi: 10.1002/ajmg.b.20110. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755452
DNA instability in replicating Huntington's disease lymphoblasts.
Cannella M, Maglione V, Martino T, Ragona G, Frati L, Li GM, Squitieri F. Cannella M, et al. Among authors: maglione v. BMC Med Genet. 2009 Feb 11;10:11. doi: 10.1186/1471-2350-10-11. BMC Med Genet. 2009. PMID: 19210789 Free PMC article.
84 results