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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. 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.
Genotype-phenotype correlations of cysteine replacement in CADASIL.
Matsushima T, Conedera S, Tanaka R, Li Y, Yoshino H, Funayama M, Ikeda A, Hosaka Y, Okuzumi A, Shimada Y, Yamashiro K, Motoi Y, Nishioka K, Hattori N. Matsushima T, et al. Neurobiol Aging. 2017 Feb;50:169.e7-169.e14. doi: 10.1016/j.neurobiolaging.2016.10.026. Epub 2016 Nov 2. Neurobiol Aging. 2017. PMID: 27890607