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CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Ungaro C, Mazzei R, Conforti FL, Sprovieri T, Servillo P, Liguori M, Citrigno L, Gabriele AL, Magariello A, Patitucci A, Muglia M, Quattrone A. Ungaro C, et al. Among authors: sprovieri t. J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935. J Neurosci Res. 2009. PMID: 19006080
The spectrum of Notch3 mutations in 28 Italian CADASIL families.
Dotti MT, Federico A, Mazzei R, Bianchi S, Scali O, Conforti FL, Sprovieri T, Guidetti D, Aguglia U, Consoli D, Pantoni L, Sarti C, Inzitari D, Quattrone A. Dotti MT, et al. Among authors: sprovieri t. J Neurol Neurosurg Psychiatry. 2005 May;76(5):736-8. doi: 10.1136/jnnp.2004.048207. J Neurol Neurosurg Psychiatry. 2005. PMID: 15834039 Free PMC article.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Muglia M, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. Hum Genet. 2007 Apr;121(2):295. Hum Genet. 2007. PMID: 17598216 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Magariello A, Gabriele AL, Patitucci A, Sprovieri T, Muglia M, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598243 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Muglia M, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598244 No abstract available.
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.
Mazzei R, Guidetti D, Ungaro C, Conforti FL, Muglia M, Cenacchi G, Lanza PL, Patitucci A, Sprovieri T, Riguzzi P, Magariello A, Gabriele AL, Citrigno L, Preda P, Quattrone A. Mazzei R, et al. Among authors: sprovieri t. J Neurol Neurosurg Psychiatry. 2008 Jan;79(1):108-10. doi: 10.1136/jnnp.2007.128009. Epub 2007 Sep 14. J Neurol Neurosurg Psychiatry. 2008. PMID: 17872982 No abstract available.
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: sprovieri t. 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: sprovieri t. Hum Genet. 2008 Jun;123(5):555. Hum Genet. 2008. PMID: 20960663 No abstract available.
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