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69 results

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Page 1
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: ungaro c. 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.
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A. Conforti FL, et al. Among authors: ungaro c. Neuromuscul Disord. 2008 Jan;18(1):68-70. doi: 10.1016/j.nmd.2007.07.003. Epub 2007 Aug 20. Neuromuscul Disord. 2008. PMID: 17703939
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: ungaro c. 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.
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL. Sproviero W, et al. Among authors: ungaro c. Neurobiol Aging. 2012 Apr;33(4):837.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.005. Epub 2011 Nov 4. Neurobiol Aging. 2012. PMID: 22055719 Free article.
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.
Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, Simone IL. Tortelli R, et al. Among authors: ungaro c. Neurobiol Aging. 2013 Jun;34(6):1709.e3-5. doi: 10.1016/j.neurobiolaging.2012.10.027. Epub 2012 Nov 22. Neurobiol Aging. 2013. PMID: 23182243
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: ungaro c. 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: ungaro c. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598243 No abstract available.
Conventional MRI and NOTCH3 gene screening in sporadic CADASIL.
Liguori M, Mazzei R, Ungaro C, Simone IL, Gambardella A, Plasmati I, Fera F, Aguglia U, Lanza P, Bono F, Chiumarulo L, Conforti FL, Consoli D, Quattrone A. Liguori M, et al. Among authors: ungaro c. Neurology. 2009 Feb 3;72(5):469-71. doi: 10.1212/01.wnl.0000336342.04778.2b. Epub 2008 Dec 3. Neurology. 2009. PMID: 19056668 No abstract available.
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: ungaro c. 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
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele A, Labella V, Simone IL, Majorana G, Monsurrò MR, Valentino P, Muglia M, Quattrone A. Conforti FL, et al. Among authors: ungaro c. J Negat Results Biomed. 2006 May 29;5:7. doi: 10.1186/1477-5751-5-7. J Negat Results Biomed. 2006. PMID: 16729899 Free PMC article.
69 results