ArticleFrontiers in molecular neuroscience2024
Analysis of the pathogenicity and pathological characteristics of
Article in Frontiers in molecular neuroscience, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Clinical and imaging characteristics of NOTCH3-negative CADASIL-suspected patients with NOTCH2NLC GGC repeat expansions.Journal of human genetics · 2026Article
- Age-dependent vascular and neurological characteristics of CADASIL are recapitulated in Notch3 mutant zebrafish, implicating a role for type IV collagen in disease progression.Acta neuropathologica communications · 2026Article
- Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum.Neurogenetics · 2026Article
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Authors and funding
9 authors.
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Abstract
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common inherited cerebral small vessel diseases caused by the NOTCH3 gene mutation. This mutation leads to the accumulation of NOTCH3 extracellular domain protein (NOTCH3 Objective: To analyze the pathogenicity and pathological features of cysteine-sparing mutations in both Methods: A cysteine-sparing mutant of NOTCH3 Results: We elucidated that the Conclusion: To our knowledge, this is the first study to analyze the pathogenicity of
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