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Gene symbol: NOTCH3. Disease: CADASIL.
Ungaro C, Sprovieri T, Conforti FL, Consoli D, Citrigno L, Liguori M, Quattrone A, Mazzei R. Ungaro C, et al. Among authors: conforti fl. Hum Genet. 2008 Jun;123(5):554. Hum Genet. 2008. PMID: 20960662 No abstract available.
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
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
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
120 results