Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia-Reference-Cited by-同舟云学术

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia

Published:2022-11-19 Issue:1 Volume:24 Page:1-16
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

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.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-022-00704-6.pdf

Reference39 articles.

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2. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) Cadasil. The Lancet. Neurology 8(7):643–653. https://doi.org/10.1016/S1474-4422(09)70127-9

3. Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H, Lesnik Oberstein S (2019) The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant. Genet Med: Off J Am Coll Med Genet 21(3):676–682. https://doi.org/10.1038/s41436-018-0088-3

4. Kalaria RN, Kittner SJ (2020) Top-NOTCH3 variants in the population at large. Stroke 51(12):3482–3484. https://doi.org/10.1161/STROKEAHA.120.031609

5. Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, Bernal-Quiros M, Lesnik Oberstein SA (2016) Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Ann Clin Transl Neurol 3(11):844–853. https://doi.org/10.1002/acn3.344

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1. Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review;International Journal of Molecular Sciences;2024-08-13

2. A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a Chinese family with CADASIL;Journal of Stroke and Cerebrovascular Diseases;2023-08