NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

Gravesteijn, G; Hack, RJ; Mulder, AA; Cerfontaine, MN; van Doorn, R; Hegeman, IM; Jost, CR; Rutten, JW; Oberstein, SAJL

Gravesteijn, G (通讯作者)，Leiden Univ, Med Ctr, Dept Clin Genet, K5-R,POB 9600, NL-2300 RC Leiden, Netherlands.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2022; 48 (1):

Abstract

Aims CADASIL, the most prevalent hereditary cerebral small vessel disease, is caused by cysteine-altering NOTCH3 variants (NOTCH3(cys)) leading to vas......

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