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Page 1
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: citrigno l. 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: citrigno l. 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: citrigno l. Hum Genet. 2008 Jun;123(5):555. Hum Genet. 2008. PMID: 20960664 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: citrigno l. 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.
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: citrigno l. J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935. J Neurosci Res. 2009. PMID: 19006080
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: citrigno l. 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
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A. Gabriele AL, et al. Among authors: citrigno l. Childs Nerv Syst. 2011 Apr;27(4):635-8. doi: 10.1007/s00381-010-1282-z. Epub 2010 Oct 7. Childs Nerv Syst. 2011. PMID: 20927530
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
Muglia M, Magariello A, Citrigno L, Passamonti L, Sprovieri T, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Ungaro C, Bellesi M, Quattrone A. Muglia M, et al. Among authors: citrigno l. Clin Genet. 2008 May;73(5):486-91. doi: 10.1111/j.1399-0004.2008.00969.x. Epub 2008 Mar 11. Clin Genet. 2008. PMID: 18336586
39 results