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Page 1
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.
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
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.
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: ungaro c. Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853. Amyotroph Lateral Scler. 2009. PMID: 18608106
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
ALS and CHARGE syndrome: a clinical and genetic study.
Ungaro C, Citrigno L, Trojsi F, Sprovieri T, Gentile G, Muglia M, Monsurrò MR, Tedeschi G, Cavallaro S, Conforti FL. Ungaro C, et al. Acta Neurol Belg. 2018 Dec;118(4):629-635. doi: 10.1007/s13760-018-1029-2. Epub 2018 Oct 13. Acta Neurol Belg. 2018. PMID: 30317490 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: ungaro c. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598244 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: ungaro c. 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
69 results