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Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A. Magariello A, et al. Among authors: quattrone a. Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684598
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.
Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A. Magariello A, et al. Among authors: quattrone a. J Neurol Sci. 2010 Jan 15;288(1-2):96-100. doi: 10.1016/j.jns.2009.09.025. Epub 2009 Oct 28. J Neurol Sci. 2010. PMID: 19875132
Gene symbol: NOTCH3. Disease: CADASIL.
Ungaro C, Sprovieri T, Conforti FL, Consoli D, Citrigno L, Liguori M, Quattrone A, Mazzei R. Ungaro C, et al. Among authors: quattrone a. Hum Genet. 2008 Jun;123(5):554. Hum Genet. 2008. PMID: 20960662 No abstract available.
Gene symbol: NOTCH3. Disease: CADASIL.
Ungaro C, Conforti FL, Sprovieri T, de Robertis F, Citrigno L, Quattrone A, Mazzei R. Ungaro C, et al. Among authors: quattrone a. Hum Genet. 2008 Jun;123(5):555. Hum Genet. 2008. PMID: 20960663 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Sprovieri T, Mazzei R, Ungaro C, Citrigno L, Quattrone A, Conforti FL. Sprovieri T, et al. Among authors: quattrone a. Hum Genet. 2008 Jun;123(5):555. Hum Genet. 2008. PMID: 20960664 No abstract available.
896 results