Associated Papers
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
39191170 (PubMed )
Supplement: mmc2.xlsx › Hoja1
Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.
Mizuta I et al.
Biomolecules, 2024
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Al-Amrani F et al.
Pediatric Neurology, 2023
Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome.
Focke JK et al.
Journal of Neurology, 2022
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
Bartoletti-Stella A et al.
Journal of Neurology, 2021
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
Greisenegger EK et al.
Journal of Neurology, 2021
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