Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
about
Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.NOTCH3 variants and risk of ischemic stroke.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.Genetics of Vascular Dementia.Two novel mutations in NOTCH3 gene causes cerebral autosomal dominant arteriopathy with subcritical infarct and leucoencephalopathy in two Chinese familiesPrevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.Insights into Autoregulation of Notch3 from Structural and Functional Studies of Its Negative Regulatory RegionCerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variantCADASIL management or what to do when there is little one can do.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.Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.Biological functions of fucose in mammals.Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASILNovel polymorphisms of nuclear receptor SHP associated with functional and structural changesNotch Signaling in Development, Tissue Homeostasis, and Disease.Clinical, familial, and neuroimaging features of CADASIL-like patients.Potential New Cysteine Sparing Mutation in the NOTCH3 Gene in a Patient with Nonfamilial CADASIL-like Disease.Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.Skin and sural nerve biopsies: ultrastructural findings in the first genetically confirmed cases of CADASIL in Serbia.
P2860
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P2860
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@en
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@nl
type
label
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@en
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@nl
prefLabel
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@en
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@nl
P2093
P50
P921
P356
P1433
P1476
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
@en
P2093
Charles Fouillade
Florence Riant
Manuèle Mine
Minh Arnoud
P356
10.1002/HUMU.9527
P407
P577
2008-03-01T00:00:00Z