Associated Papers
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.
Cao Y et al.
International Journal of Molecular Sciences, 2024
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.
Wightman DP et al.
Scientific Reports, 2023
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M et al.
Neurogenetics, 2023
Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.
Groen K et al.
Diagnostics (basel, Switzerland), 2022
Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance.
Taborsky J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Almeida MR et al.
Neurogenetics, 2022
The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.
Guo L et al.
Cns Neuroscience & Therapeutics, 2021
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Sassi C et al.
Scientific Reports, 2021
Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.
Argyropoulos KV et al.
Blood Cancer Journal, 2020
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Dominguez-Valentin M et al.
Scientific Reports, 2019
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.
Sun Y et al.
Medicine, 2019
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X et al.
Annals of Neurology, 2018
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C et al.
Neurobiology of Aging, 2018
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M et al.
Familial Cancer, 2018
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.
Muiño E et al.
International Journal of Molecular Sciences, 2017
Genetic analysis of a morphologically heterogeneous ovarian endometrioid carcinoma.
Geyer FC et al.
Histopathology, 2017
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Maksemous N et al.
Human Genomics, 2016
APOE and AGT in the Finnish p.Arg133Cys CADASIL population.
Siitonen M et al.
Acta Neurologica Scandinavica, 2015
A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
Fernández A et al.
Journal of Molecular Neuroscience : Mn, 2015
New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
Abramycheva N et al.
Journal of the Neurological Sciences, 2015
R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.
Lim KS et al.
Plos One, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses.
Vlachakis D et al.
Journal of Molecular Biochemistry, 2014
Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.
Schmidt H et al.
Brain : a Journal of Neurology, 2011
High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Cappelli A et al.
Neuroscience Letters, 2009
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Ungaro C et al.
Journal of Neuroscience Research, 2009
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
Joutel A et al.
Lancet (london, England), 1997