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Academic Journal

Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.

  • Authors : Ishiyama H; Department of Neurology, National Cerebral and Cardiovascular Center, Osaka, Japan.; Department of Neurology, Keio University School of Medicine, Tokyo, Japan.

Subjects: CADASIL*/CADASIL*/CADASIL*/genetics ; Cerebral Hemorrhage*/Cerebral Hemorrhage*/Cerebral Hemorrhage*/genetics ; Mutation*/Mutation*/Mutation*/genetics

  • Source: Annals of neurology [Ann Neurol] 2024 Jun; Vol. 95 (6), pp. 1040-1054. Date of Electronic Publication: 2024 Mar 23.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

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

  • Authors : Mukai M; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.; Mizuta I

Subjects: CADASIL/CADASIL/CADASIL/*genetics ; Receptor, Notch3/Receptor, Notch3/Receptor, Notch3/*genetics; Aged

  • Source: Journal of human genetics [J Hum Genet] 2020 Aug; Vol. 65 (8), pp. 637-646. Date of Electronic Publication: 2020 Apr 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The CADASIL Scale-J, A Modified Scale to Prioritize Access to Genetic Testing for Japanese CADASIL-Suspected Patients.

  • Authors : Koizumi T; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.; Mizuta I

Subjects: DNA Mutational Analysis* ; Decision Support Techniques* ; Health Services Accessibility*

  • Source: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2019 Jun; Vol. 28 (6), pp. 1431-1439. Date of ElectronicPublisher: Saunders Country of Publication: United States NLM ID: 9111633 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

  • Authors : Kano Y; Department of Neurology, Tosei General Hospital, Japan.; Department of Neurology, Nagoya City East Medical Center, Japan.

Subjects: CADASIL*/CADASIL*/CADASIL*/diagnosis ; CADASIL*/CADASIL*/CADASIL*/genetics; Cysteine/Cysteine/Cysteine/genetics

  • Source: Internal medicine (Tokyo, Japan) [Intern Med] 2021 Aug 01; Vol. 60 (15), pp. 2479-2482. Date of Electronic Publication: 2021 Mar 08.Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model:

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  • 1-5 of  5 results for ""Receptor, Notch3""