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117 results

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Page 1
Gene conversion events in adult-onset spinal muscular atrophy.
Mazzei R, Gambardella A, Conforti FL, Magariello A, Patitucci A, Gabriele AL, Sprovieri T, Labate A, Valentino P, Bono F, Bonavita S, Zappia M, Muglia M, Quattrone A. Mazzei R, et al. Among authors: muglia m. Acta Neurol Scand. 2004 Feb;109(2):151-4. doi: 10.1034/j.1600-0404.2003.00181.x. Acta Neurol Scand. 2004. PMID: 14705979
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nisticò R, Senderek J, Quattrone A. Conforti FL, et al. Among authors: muglia m. Neurology. 2004 Oct 12;63(7):1327-8. doi: 10.1212/01.wnl.0000140617.02312.80. Neurology. 2004. PMID: 15477569 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Patitucci A, Magariello A, Sprovieri T, Ungaro C, Gabriele AL, Muglia M, Del Giudice E, Quattrone A. Conforti FL, et al. Among authors: muglia m. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128467 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Sprovieri T, Ungaro C, Patitucci A, Magariello A, Gabriele AL, Bravaccio C, Muglia M, Quattrone A. Conforti FL, et al. Among authors: muglia m. Hum Genet. 2006 Jul;119(6):676. Hum Genet. 2006. PMID: 17128468 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. Among authors: muglia m. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598244 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: muglia m. 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
117 results