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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: aguglia u. J Neurol. 1998 Oct;245(10):647-52. doi: 10.1007/s004150050261. J Neurol. 1998. PMID: 9776463
The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease.
Oliveri RL, Annesi G, Zappia M, Civitelli D, De Marco EV, Pasqua AA, Annesi F, Spadafora P, Gambardella A, Nicoletti G, Branca D, Caracciolo M, Aguglia U, Quattrone A. Oliveri RL, et al. Among authors: aguglia u. Mov Disord. 2000 Jan;15(1):127-31. doi: 10.1002/1531-8257(200001)15:1<120::aid-mds1019>3.0.co;2-s. Mov Disord. 2000. PMID: 10634251
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
Annesi G, Gambardella A, Carrideo S, Incorpora G, Labate A, Pasqua AA, Civitelli D, Polizzi A, Annesi F, Spadafora P, Tarantino P, Cirò Candiano IC, Romeo N, De Marco EV, Ventura P, LePiane E, Zappia M, Aguglia U, Pavone L, Quattrone A. Annesi G, et al. Among authors: aguglia u. Epilepsia. 2003 Sep;44(9):1257-8. doi: 10.1046/j.1528-1157.2003.22503.x. Epilepsia. 2003. PMID: 12919402 Free article. No abstract available.
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A. Magariello A, et al. Among authors: aguglia u. Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684598
Anti-NMDA receptor encephalitis: a video case report.
Labate A, Irani SR, Vincent A, Gambardella A, Piane EL, Cianci V, Aguglia U. Labate A, et al. Among authors: aguglia u. Epileptic Disord. 2009 Sep;11(3):267-9. doi: 10.1684/epd.2009.0268. Epub 2009 Aug 28. Epileptic Disord. 2009. PMID: 19713171 Free article.
298 results