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Academic Journal

Nailfold capillary measurements correlated to NOTCH3 R544C mutation in preclinical CADASIL patients.

  • Authors : Liang CM; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan.; Lee W

Subjects: CADASIL*/CADASIL*/CADASIL*/genetics ; CADASIL*/CADASIL*/CADASIL*/diagnostic imaging ; Receptor, Notch3*/Receptor, Notch3*/Receptor, Notch3*/genetics

  • Source: Journal of the neurological sciences [J Neurol Sci] 2024 Jul 15; Vol. 462, pp. 123109. Date of Electronic Publication: 2024 Jun 23.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Notch3 protein expression in skin fibroblasts from CADASIL patients.

  • Authors : Qualtieri A; Institute of Neurological Sciences, National Research Council, Mangone, CS, Italy. Electronic address: .; Ungaro C

Subjects: CADASIL/CADASIL/CADASIL/*metabolism ; Fibroblasts/Fibroblasts/Fibroblasts/*metabolism ; Receptor, Notch3/Receptor, Notch3/Receptor, Notch3/*metabolism

  • Source: Journal of the neurological sciences [J Neurol Sci] 2018 Jul 15; Vol. 390, pp. 121-128. Date of Electronic Publication: 2018 Apr 19.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.

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

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

  • Source: Journal of the neurological sciences [J Neurol Sci] 2018 Nov 15; Vol. 394, pp. 38-40. Date of Electronic Publication: 2018 Aug 29.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.

  • Authors : Abou Al-Shaar H; Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: .

Subjects: Heterozygote* ; Homozygote* ; Mutation*

  • Source: Journal of the neurological sciences [J Neurol Sci] 2016 Aug 15; Vol. 367, pp. 239-43. Date of Electronic Publication: 2016 Jun 01.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.

  • Authors : Korvatska O; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA. Electronic address: .; Bucks SA

Subjects: Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/complications ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/diagnostic imaging ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/genetics

  • Source: Journal of the neurological sciences [J Neurol Sci] 2023 Sep 15; Vol. 452, pp. 120763. Date of Electronic Publication: 2023 Aug 07.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study.

  • Authors : Ospina C; Neuroscience Group of Antioquia, University of Antioquia, Medellín, Colombia. Electronic address: .; Arboleda-Velasquez JF

Subjects: CADASIL*/CADASIL*/CADASIL*/epidemiology ; CADASIL*/CADASIL*/CADASIL*/genetics; Adult

  • Source: Journal of the neurological sciences [J Neurol Sci] 2020 Dec 15; Vol. 419, pp. 117178. Date of Electronic Publication: 2020 Oct 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel dot-blot assay for detection of vascular Notch3 aggregates in patients with CADASIL.

  • Authors : Ma Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-0811, Japan.; Ueda M

Subjects: CADASIL*/CADASIL*/CADASIL*/diagnosis; Humans ; Immunoblotting

  • Source: Journal of the neurological sciences [J Neurol Sci] 2020 Aug 15; Vol. 415, pp. 116931. Date of Electronic Publication: 2020 May 21.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Serum amyloid P component: A novel potential player in vessel degeneration in CADASIL.

  • Authors : Nagatoshi A; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-0811, Japan.; Ueda M

Subjects: CADASIL/CADASIL/CADASIL/*metabolism ; CADASIL/CADASIL/CADASIL/*pathology ; Serum Amyloid P-Component/Serum Amyloid P-Component/Serum Amyloid P-Component/*biosynthesis

  • Source: Journal of the neurological sciences [J Neurol Sci] 2017 Aug 15; Vol. 379, pp. 69-76. Date of Electronic Publication: 2017 May 26.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.

  • Authors : Mizuta I; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.; Watanabe-Hosomi A

Subjects: CADASIL/CADASIL/CADASIL/*diagnosis; Adult ; Aged

  • Source: Journal of the neurological sciences [J Neurol Sci] 2017 Oct 15; Vol. 381, pp. 62-67. Date of Electronic Publication: 2017 Aug 08.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Intracranial arterial disease in CADASIL patients.

  • Authors : Kang HG; Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.; Kim JS

Subjects: CADASIL/CADASIL/CADASIL/*complications ; Intracranial Arterial Diseases/Intracranial Arterial Diseases/Intracranial Arterial Diseases/*etiology; Adult

  • Source: Journal of the neurological sciences [J Neurol Sci] 2015 Dec 15; Vol. 359 (1-2), pp. 347-50. Date of Electronic Publication: 2015 Nov 17.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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