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123 results

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Page 1
Hyperekplexia in a patient with a brainstem vascular anomaly.
Gambardella A, Valentino P, Annesi G, Oliveri RL, Bono F, Mazzei RL, Conforti FL, Aguglia U, Zappia M, Pardatscher K, Quattrone A. Gambardella A, et al. Among authors: conforti fl. Acta Neurol Scand. 1999 Apr;99(4):255-9. doi: 10.1111/j.1600-0404.1999.tb07358.x. Acta Neurol Scand. 1999. PMID: 10225359
CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.
Gambardella A, Annesi G, Bono F, Spadafora P, Valentino P, Pasqua AA, Mazzei R, Montesanti R, Conforti FL, Oliveri RL, Zappia M, Aguglia U, Quattrone A. Gambardella A, et al. Among authors: conforti fl. J Neurol. 1998 Oct;245(10):647-52. doi: 10.1007/s004150050261. J Neurol. 1998. PMID: 9776463
Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.
Gambardella A, Muglia M, Labate A, Magariello A, Gabriele AL, Mazzei R, Pirritano D, Conforti FL, Patitucci A, Valentino P, Zappia M, Quattrone A. Gambardella A, et al. Among authors: conforti fl. Neurology. 2001 Aug 28;57(4):708-11. doi: 10.1212/wnl.57.4.708. Neurology. 2001. PMID: 11524486
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: conforti fl. Arch Neurol. 2001 Sep;58(9):1418-22. doi: 10.1001/archneur.58.9.1418. Arch Neurol. 2001. PMID: 11559313
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: conforti fl. Acta Neurol Scand. 2004 Feb;109(2):151-4. doi: 10.1034/j.1600-0404.2003.00181.x. Acta Neurol Scand. 2004. PMID: 14705979
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: conforti fl. Neurology. 2005 Apr 26;64(8):1477-8. doi: 10.1212/01.WNL.0000158679.47281.03. Neurology. 2005. PMID: 15851752 No abstract available.
Conventional MRI and NOTCH3 gene screening in sporadic CADASIL.
Liguori M, Mazzei R, Ungaro C, Simone IL, Gambardella A, Plasmati I, Fera F, Aguglia U, Lanza P, Bono F, Chiumarulo L, Conforti FL, Consoli D, Quattrone A. Liguori M, et al. Among authors: conforti fl. Neurology. 2009 Feb 3;72(5):469-71. doi: 10.1212/01.wnl.0000336342.04778.2b. Epub 2008 Dec 3. Neurology. 2009. PMID: 19056668 No abstract available.
The spectrum of Notch3 mutations in 28 Italian CADASIL families.
Dotti MT, Federico A, Mazzei R, Bianchi S, Scali O, Conforti FL, Sprovieri T, Guidetti D, Aguglia U, Consoli D, Pantoni L, Sarti C, Inzitari D, Quattrone A. Dotti MT, et al. Among authors: conforti fl. J Neurol Neurosurg Psychiatry. 2005 May;76(5):736-8. doi: 10.1136/jnnp.2004.048207. J Neurol Neurosurg Psychiatry. 2005. PMID: 15834039 Free PMC article.
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.
Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A. Magariello A, et al. Among authors: conforti fl. J Neurol Sci. 2010 Jan 15;288(1-2):96-100. doi: 10.1016/j.jns.2009.09.025. Epub 2009 Oct 28. J Neurol Sci. 2010. PMID: 19875132
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL. Sproviero W, et al. Among authors: conforti fl. Neurobiol Aging. 2012 Apr;33(4):837.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.005. Epub 2011 Nov 4. Neurobiol Aging. 2012. PMID: 22055719 Free article.
123 results