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Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. Luisa Conforti F, et al. Among authors: citrigno l. Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853. Amyotroph Lateral Scler. 2009. PMID: 18608106
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.
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
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
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: citrigno l. J Neurol Sci. 2009 Feb 15;277(1-2):22-5. doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13. J Neurol Sci. 2009. PMID: 19084844
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
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis.
Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, Magariello A, Patitucci A, La Bella V, Sprovieri T, Tedeschi G, Citrigno L, Gabriele AL, Bono F, Monsurrò MR, Muglia M, Gambardella A, Quattrone A. Conforti FL, et al. Among authors: citrigno l. J Neurol Neurosurg Psychiatry. 2011 May;82(5):587-8. doi: 10.1136/jnnp.2009.198309. Epub 2010 Oct 19. J Neurol Neurosurg Psychiatry. 2011. PMID: 20959352 No abstract available.
41 results