Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
about
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3CADASIL and CARASIL.Neuropsychiatric manifestations in CADASIL.Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.CADASIL: a critical look at a Notch disease.Single gene disorders causing ischaemic stroke.Monogenic vessel diseases related to ischemic stroke: a clinical approach.Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.Genetic animal models of cerebral vasculopathies.CADASIL: experimental insights from animal models.Interpretation of NOTCH3 mutations in the diagnosis of CADASIL."CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.Detection of the founder effect in Finnish CADASIL families.CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.APOE and AGT in the Finnish p.Arg133Cys CADASIL population.Excellent cognitive performance despite massive cerebral white matter changes.Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGFβ expression.Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis
P2860
Q28483874-712813CD-E09C-46DE-A9AF-6D53654BD3C9Q30861866-C272E61A-83FA-444F-89A2-5D2CB43C7B3FQ31122866-95050780-6BC9-487F-A0D3-349011F20D32Q33909665-664A41A4-4D42-461E-8880-2CE8EE80196BQ35143551-5C9CF561-128D-4690-9C63-630BD83134FDQ36409731-25BEA839-666B-4884-830D-311EA5D277C8Q36522909-EFD6162B-801E-4E60-966E-BABE3B9E811DQ36853643-105710B8-A880-4A41-9287-D0038377E88DQ37158175-35443A8D-5873-4915-8CCF-47C9E52AB500Q37542635-D81FBF7A-EC9F-4446-80DD-AEE446B6A5C4Q37793683-F9978DBB-BAD4-415A-870B-1D25EF4E78B8Q38213076-3B0FD0C6-BE10-4CFF-A982-69FB2D209354Q44368315-85B67FF8-52DD-4B14-946E-4CD86B2FFFAEQ45065891-C0EC391C-8872-4222-B2CA-CA6EB279FFA3Q46249496-9377EE90-2646-46DF-9A82-8CF941589AD2Q48257499-E8C67700-40D1-4AEA-912B-E28EE9D50AA0Q48776769-B51BC35A-9B07-404A-914D-14D02EF51288Q51740449-28F406FA-7B61-487B-AB2B-3DAC5CE092E8Q56804143-BB7D4B80-B8C2-40AB-BB25-197EEF47F585
P2860
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@ast
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@en
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@nl
type
label
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@ast
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@en
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@nl
prefLabel
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@ast
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@en
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@nl
P2093
P356
P1433
P1476
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
@en
P2093
C Vayssière
E Tournier-Lasserve
H Chabriat
M M Ruchoux
P304
P356
10.1212/WNL.54.9.1874
P407
P577
2000-05-09T00:00:00Z