Associated Papers
Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.
Parra A et al.
Cancers, 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
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Almeida MR et al.
Neurogenetics, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
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
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
Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients.
Gómez J et al.
International Journal of Cardiology, 2016
APOE and AGT in the Finnish p.Arg133Cys CADASIL population.
Siitonen M et al.
Acta Neurologica Scandinavica, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Genetics of age-related white matter lesions from linkage to genome wide association studies.
Freudenberger P et al.
Journal of the Neurological Sciences, 2012
Genetics of subcortical vascular dementia.
Schmidt H et al.
Experimental Gerontology, 2012
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
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
NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
Mosca L et al.
Journal of the Neurological Sciences, 2011
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