| 1 |
34297860 | NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature. | 2022 Feb |
2 |
| 2 |
34851492 | NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype. | 2022 Jan |
1 |
| 3 |
35001891 | De novo Mutation Enables NOTCH3ECD Aggregation and Mitochondrial Dysfunction via Interactions with BAX and BCL-2. | 2022 |
1 |
| 4 |
35393494 | Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia. | 2022 Apr 7 |
4 |
| 5 |
35409031 | Trans-Reduction of Cerebral Small Vessel Disease Proteins by Notch-Derived EGF-like Sequences. | 2022 Mar 27 |
6 |
| 6 |
33493070 | Correction to: Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population. | 2021 Jan |
1 |
| 7 |
33678736 | Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. | 2021 Aug 1 |
2 |
| 8 |
33712516 | NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants. | 2021 Jul |
4 |
| 9 |
33767277 | Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment. | 2021 Mar 25 |
1 |
| 10 |
33895122 | Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases. | 2021 Nov |
2 |
| 11 |
33898742 | Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions. | 2021 Jun |
4 |
| 12 |
33939102 | Electrophilic and Drug-Induced Stimulation of NOTCH3 N-terminal Fragment Oligomerization in Cerebrovascular Pathology. | 2021 Dec |
1 |
| 13 |
34298974 | Contribution of "Omic" Studies to the Understanding of Cadasil. A Systematic Review. | 2021 Jul 8 |
1 |
| 14 |
34335700 | NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients. | 2021 |
2 |
| 15 |
34881353 | Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population. | 2021 Dec |
2 |
| 16 |
31720972 | A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family. | 2020 Jan |
2 |
| 17 |
31792094 | NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population. | 2020 Jan 7 |
3 |
| 18 |
31901894 | NOTCH3 is non-enzymatically fragmented in inherited cerebral small-vessel disease. | 2020 Feb 14 |
2 |
| 19 |
31960911 | Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients. | 2020 Jul 21 |
9 |
| 20 |
32277177 | Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients. | 2020 Aug |
1 |
| 21 |
32457593 | Clinical and Genetic Aspects of CADASIL. | 2020 |
1 |
| 22 |
32552418 | Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. | 2020 Jul 7 |
1 |
| 23 |
32555735 | Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations. | 2020 |
5 |
| 24 |
32732295 | Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance. | 2020 Sep 29 |
6 |
| 25 |
33161844 | Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population. | 2020 Dec |
5 |
| 26 |
30032161 | 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. | 2019 Mar |
1 |
| 27 |
30855338 | CADASIL: new advances in basic science and clinical perspectives. | 2019 May |
2 |
| 28 |
31719132 | How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. | 2019 Nov 26 |
1 |
| 29 |
29478611 | CADASIL. | 2018 |
2 |
| 30 |
29600389 | A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not? | 2018 Jun |
1 |
| 31 |
28902129 | Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL. | 2017 Sep 13 |
3 |
| 32 |
29445441 | Potential New Cysteine Sparing Mutation in the NOTCH3 Gene in a Patient with Nonfamilial CADASIL-like Disease. | 2017 Dec |
1 |
| 33 |
26912635 | Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. | 2016 Apr |
8 |
| 34 |
27844030 | Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. | 2016 Nov |
3 |
| 35 |
27881154 | Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. | 2016 Nov 24 |
1 |
| 36 |
25096610 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene. | 2015 |
1 |
| 37 |
25604251 | Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro. | 2015 Mar |
3 |
| 38 |
25623805 | New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). | 2015 Feb 15 |
2 |
| 39 |
25846589 | [Subcortical ischemic vascular dementia: lesson from hereditary cerebral small vessel disease]. | 2015 Apr |
1 |
| 40 |
25922511 | Letter by Rutten et al Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro". | 2015 Jun |
1 |
| 41 |
25922512 | Response to Letter Regarding Article, "Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro". | 2015 Jun |
1 |
| 42 |
25929831 | A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients. | 2015 Jul |
1 |
| 43 |
25980907 | Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. | 2015 Aug |
1 |
| 44 |
26261665 | Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case. | 2015 |
1 |
| 45 |
26305465 | Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke. | 2015 |
2 |
| 46 |
24816653 | Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis. | 2014 Dec |
1 |
| 47 |
24844136 | Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. | 2014 Jun |
1 |
| 48 |
25098330 | A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL. | 2014 |
3 |
| 49 |
26035923 | [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. | 2014 Jun |
1 |
| 50 |
21737310 | The first Indian-origin family with genetically proven cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | 2013 Jan |
1 |