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117 results

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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: mazzei r. J Neurol. 1998 Oct;245(10):647-52. doi: 10.1007/s004150050261. J Neurol. 1998. PMID: 9776463
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. Acta Neurol Scand. 2004 Feb;109(2):151-4. doi: 10.1034/j.1600-0404.2003.00181.x. Acta Neurol Scand. 2004. PMID: 14705979
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: mazzei rl. Acta Neurol Scand. 1999 Apr;99(4):255-9. doi: 10.1111/j.1600-0404.1999.tb07358.x. Acta Neurol Scand. 1999. PMID: 10225359
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: mazzei r. 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: mazzei r. Arch Neurol. 2001 Sep;58(9):1418-22. doi: 10.1001/archneur.58.9.1418. Arch Neurol. 2001. PMID: 11559313
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: mazzei r. Neurology. 2005 Apr 26;64(8):1477-8. doi: 10.1212/01.WNL.0000158679.47281.03. Neurology. 2005. PMID: 15851752 No abstract available.
Silent celiac disease in patients with childhood localization-related epilepsies.
Labate A, Gambardella A, Messina D, Tammaro S, Le Piane E, Pirritano D, Cosco C, Doldo P, Mazzei R, Oliveri RL, Bosco D, Zappia M, Valentino P, Aguglia U, Quattrone A. Labate A, et al. Among authors: mazzei r. Epilepsia. 2001 Sep;42(9):1153-5. doi: 10.1046/j.1528-1157.2001.45700.x. Epilepsia. 2001. PMID: 11580763 Free article.
117 results