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A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML. Muglia M, et al. Among authors: quattrone a. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. doi: 10.1136/jnnp.2007.115774. J Neurol Neurosurg Psychiatry. 2007. PMID: 17940179 Free PMC article. No abstract available.
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.
Is overwork weakness relevant in Charcot-Marie-Tooth disease?
Piscosquito G, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Calabrese D, Hughes RA, Radice D, Solari A, Pareyson D; CMT-TRIAAL & CMT-TRAUK Group. Piscosquito G, et al. Among authors: quattrone a. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1354-8. doi: 10.1136/jnnp-2014-307598. Epub 2014 Mar 21. J Neurol Neurosurg Psychiatry. 2014. PMID: 24659795
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis.
Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, Magariello A, Patitucci A, La Bella V, Sprovieri T, Tedeschi G, Citrigno L, Gabriele AL, Bono F, Monsurrò MR, Muglia M, Gambardella A, Quattrone A. Conforti FL, et al. Among authors: quattrone a. J Neurol Neurosurg Psychiatry. 2011 May;82(5):587-8. doi: 10.1136/jnnp.2009.198309. Epub 2010 Oct 19. J Neurol Neurosurg Psychiatry. 2011. PMID: 20959352 No abstract available.
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P).
Valentino P, Conforti FL, Pirritano D, Nisticò R, Mazzei R, Patitucci A, Sprovieri T, Gabriele AL, Muglia M, Clodomiro A, Gambardella A, Zappia M, Quattrone A. Valentino P, et al. Among authors: quattrone a. Neurology. 2005 Apr 26;64(8):1477-8. doi: 10.1212/01.WNL.0000158679.47281.03. Neurology. 2005. PMID: 15851752 No abstract available.
921 results