Associated Papers
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
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.
Nogueira R et al.
Arquivos De Neuro-psiquiatria, 2023
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Kleo K et al.
Journal of Cancer Research and Clinical Oncology, 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M et al.
Neurogenetics, 2023
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 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
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn PJ et al.
Human Genomics, 2020
Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018).
Rutten JW et al.
Translational Stroke Research, 2019
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers.
Masoli JAH et al.
Translational Stroke Research, 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
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C et al.
Neurobiology of Aging, 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
Genotype-phenotype correlations of cysteine replacement in CADASIL.
Matsushima T et al.
Neurobiology of Aging, 2017
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Maksemous N et al.
Human Genomics, 2016
Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients.
Gómez J et al.
International Journal of Cardiology, 2016
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
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
Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.
Guerreiro RJ et al.
Neurobiology of Aging, 2012
Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
Roy B et al.
Mutation Research, 2012
NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
Mosca L et al.
Journal of the Neurological Sciences, 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
Case records of the Massachusetts General Hospital. Case 12-2009. A 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members.
Brass SD et al.
The New England Journal of Medicine, 2009
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Ungaro C et al.
Journal of Neuroscience Research, 2009