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Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M, Chandoga J, Cisárik F, Dallemule S, Ďurina P, Jarásková D, Jungová P, Kantarská D, Kvasnicová M, Mistrík M, Pastoráková A, Petrovič R, Valachová A, Zelinková H, Barošová J, Böhmer D, Štofko J. Juhosová M, et al. Neurogenetics. 2023 Jan;24(1):1-16. doi: 10.1007/s10048-022-00704-6. Epub 2022 Nov 19. Neurogenetics. 2023. PMID: 36401683
Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities.
Ramirez J, Dilliott AA, Binns MA, Breen DP, Evans EC, Beaton D, McLaughlin PM, Kwan D, Holmes MF, Ozzoude M, Scott CJM, Strother SC, Symons S, Swartz RH, Grimes D, Jog M, Masellis M, Black SE, Joutel A, Marras C, Rogaeva E, Hegele RA, Lang AE; Ontario Neurodegenerative Disease Research Initiative Investigators. Ramirez J, et al. Mov Disord. 2020 Nov;35(11):2090-2095. doi: 10.1002/mds.28171. Epub 2020 Jun 23. Mov Disord. 2020. PMID: 32573853
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, Bernal-Quiros M, Lesnik Oberstein SA. Rutten JW, et al. Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844030 Free PMC article.