Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. - Wikidata - awgldk - TriplyDB

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

http://www.wikidata.org/entity/Q37158175

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Cerebral small vessel disease: Capillary pathways to stroke and cognitive decline Neurogenomics in Africa: Perspectives, progress, possibilities and priorities Genetic susceptibility to ischemic stroke.Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease CADASIL and CARASIL.Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients Case report: bipolar disorder as the first manifestation of CADASIL Embryonic origins of human vascular smooth muscle cells: implications for in vitro modeling and clinical application Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.Identification of a known mutation in Notch 3 in familiar CADASIL in China.Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits New information on the genetics of stroke.Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.Genetics of cerebral small vessel disease Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.An overview of notch signaling in adult tissue renewal and maintenance.Multimodal retinal vessel analysis in CADASIL patients.Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China.Stroke-related translational research.Genetic animal models of cerebral vasculopathies.CADASIL: experimental insights from animal models.Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.Evaluation for secondary causes of headache: the role of blood and urine testing.Notch and disease: a growing field.Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy.Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.CADASIL: Treatment and Management Options.CADASIL mutant NOTCH3(R90C) decreases the viability of HS683 oligodendrocytes via apoptosis.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Argentina.Recurrent transient global amnesia as presenting symptoms of CADASIL.Oxidative stress in cerebral small vessel disease. Role of reactive species.Notch Signaling in Development, Tissue Homeostasis, and Disease.Cadasil - genetic and ultrastructural diagnosis. Case report.Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.Clinical, familial, and neuroimaging features of CADASIL-like patients.

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P2860

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

http://www.wikidata.org/entity/Q37158175

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article científic

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article scientifique

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artigo científico

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bilimsel makale

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scientific article published on 27 January 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

@en

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

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type

label

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

@en

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

@nl

prefLabel

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

@en

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

@nl

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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

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Hannu Kalimo

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Kati Mykkänen

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Maija Junna

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Marie-Magdeleine Ruchoux

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Matti Viitanen

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Robert Bergholm

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Saara Tikka

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P2860

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: phenotypic and mutational spectrum.

Lessons from CADASIL.

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scholarly article

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10.1093/BRAIN/AWN364

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Pt 4

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132

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Hannele Yki-Järvinen

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2009-01-27T00:00:00Z

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23953740

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19174371

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