Associated Papers
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
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 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
Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.
Cao W et al.
Molecular Cancer Therapeutics, 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
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 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
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
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
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population.
Aldalaan AM et al.
Pulmonary Circulation, 0