Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients-Reference-Cited by-同舟云学术

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Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients

Published:2020-04-10 Issue:8 Volume:65 Page:637-646
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Mukai Mao,Mizuta Ikuko,Watanabe-Hosomi Akiko,Koizumi Takashi,Matsuura Jun,Hamano Ai,Tomimoto Hidekazu,Mizuno Toshiki

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-020-0751-9.pdf

Reference29 articles.

1. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009;8:643–53.

2. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke. 1993;24:122–5.

3. Wang T, Baron M, Trump D. An overview of Notch3 function in vascular smooth muscle cells. Prog Biophys Mol Biol. 2008;96:499–509.

4. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350:1511–5.

5. Duering M, Karpinska A, Rosner S, Hopfner F, Zechmeister M, Peters N, et al. Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis. Hum Mol Genet. 2011;20:3256–65.

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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

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3. Association of NOTCH3 Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL;Neurology;2024-05-28

4. Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease;Biomolecules;2024-01-18

5. Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review;Journal of Neurology;2024-01-13

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