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.
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.
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
6.
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