about
Cerebral hemorrhages in CADASIL: report of four cases and a brief review.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience.Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.Facial affect recognition in CADASIL patients.Clinical, familial, and neuroimaging features of CADASIL-like patients.Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.Homozygosity and severity of phenotypic presentation in a CADASIL family.Two novel HTRA1 mutations in a European CARASIL patientHigh lipoprotein(a) serum levels in three CADASIL familiesBone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and LeukoencephalopathyCADASIL in central Italy: a retrospective clinical and genetic study in 229 patientsFirst report of an Iraqi Kurdish CADASIL patientHTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers
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description
researcher ORCID ID = 0000-0001-9950-0571
@en
name
Silvia Bianchi
@ast
Silvia Bianchi
@en
Silvia Bianchi
@es
Silvia Bianchi
@nl
type
label
Silvia Bianchi
@ast
Silvia Bianchi
@en
Silvia Bianchi
@es
Silvia Bianchi
@nl
prefLabel
Silvia Bianchi
@ast
Silvia Bianchi
@en
Silvia Bianchi
@es
Silvia Bianchi
@nl
P21
P31
P496
0000-0001-9950-0571