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Page 1
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. 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
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. 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. 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. 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. 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
70 results