Detalhe da pesquisa
1.
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Genet Med
; 26(6): 101105, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430071
2.
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Brain
; 146(7): 2913-2927, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36535904
3.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.
Stroke
; 53(6): 1964-1974, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300531
4.
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Stroke
; 53(10): 3133-3144, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862191
5.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Hum Mol Genet
; 29(11): 1853-1863, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960911
6.
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Neuropathol Appl Neurobiol
; 48(1): e12751, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297860
7.
Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management.
Stroke
; 52(9): 3025-3032, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399586
8.
Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population.
Stroke
; 51(12): 3562-3569, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33161844
9.
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
Genet Med
; 21(3): 676-682, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032161
10.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
BMC Med
; 15(1): 41, 2017 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28231783
11.
Neurofibromas in LZTR1 schwannomatosis.
Clin Genet
; 101(5-6): 571-572, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178712
12.
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
Brain
; 139(Pt 4): 1123-35, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912635
13.
Association of NOTCH3 Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL.
Neurology
; 102(10): e209310, 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38713890
14.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Hum Mutat
; 34(11): 1486-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24000151
15.
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
J Med Genet
; 49(6): 366-72, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22636604
16.
7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL.
J Neurol Neurosurg Psychiatry
; 83(12): 1180-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22923513
17.
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Neurogenetics
; 12(4): 263-71, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993715
18.
Engineered 3D vessel-on-chip using hiPSC-derived endothelial- and vascular smooth muscle cells.
Stem Cell Reports
; 16(9): 2159-2168, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478648
19.
Lenticulostriate arterial lumina are normal in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a high-field in vivo MRI study.
Stroke
; 41(12): 2812-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20966419
20.
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Neurology
; 95(13): e1835-e1843, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732295