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 Feb 27.
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.
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Eur J Pediatr
; 183(1): 345-355, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889289
4.
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
5.
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
6.
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
7.
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
8.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894057
9.
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
10.
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
11.
Correction: 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(8): 1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237574
12.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(9): 2159-2164, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
13.
Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(5): 1074-1082, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924
14.
Translational models for vascular cognitive impairment: a review including larger species.
BMC Med
; 15(1): 16, 2017 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28118831
15.
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
16.
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.
J Cardiovasc Dev Dis
; 11(3)2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535109
17.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Hum Mutat
; 34(11): 1486-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24000151
18.
Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model.
EMBO Mol Med
; 15(2): e16556, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524456
19.
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
20.
Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice.
Transl Stroke Res
; 11(3): 517-527, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31667734