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916 results

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Page 1
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. Among authors: quattrone a. 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. Among authors: quattrone a. 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
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: quattrone a. 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: quattrone a. 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
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
Oliveri RL, Muglia M, De Stefano N, Mazzei R, Labate A, Conforti FL, Patitucci A, Gabriele AL, Tagarelli G, Magariello A, Zappia M, Gambardella A, Federico A, Quattrone A. Oliveri RL, et al. Among authors: quattrone a. Arch Neurol. 2001 Sep;58(9):1418-22. doi: 10.1001/archneur.58.9.1418. Arch Neurol. 2001. PMID: 11559313
916 results