Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations
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Title
Genetic spectrum of
NOTCH3
and clinical phenotype of
CADASIL
patients in different populations
Authors
Keywords
-
Journal
CNS Neuroscience & Therapeutics
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2022-07-13
DOI
10.1111/cns.13917
References
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Note: Only part of the references are listed.- NOTCH3 SIGNALING AND AGGREGATION AS TARGETS FOR THE TREATMENT OF CADASIL AND OTHER NOTCH3-ASSOCIATED SMALL VESSEL DISEASE
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- Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China
- (2021) Chen Zhang et al. EUROPEAN NEUROLOGY
- NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients
- (2021) Yacen Hu et al. Frontiers in Genetics
- CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases
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- Imaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL)
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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- Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014
- (2015) Akihiko Ueda et al. JOURNAL OF NEUROLOGY
- Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
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- CADASIL and CARASIL
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- CADASIL
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- Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue
- (2008) Toshiki Mizuno et al. INTERNAL MEDICINE
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