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Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D'Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A. Muglia M, et al. Neurogenetics. 2004 Feb;5(1):49-54. doi: 10.1007/s10048-003-0167-7. Epub 2003 Dec 5. Neurogenetics. 2004. PMID: 14658060
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
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, Carella M, Martini B, Rossi A, Amabile GA, Nappi G, Filla A, Dallapiccola B, Santorelli FM. Casali C, et al. Among authors: muglia m. Neurology. 2004 Jan 27;62(2):262-8. doi: 10.1212/wnl.62.2.262. Neurology. 2004. PMID: 14745065
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.
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