Lista de obras - Silvia Bianchi - Dominio Público Uruguay

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

artículo científico publicado en 2015

Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience

artículo científico publicado en 2012

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene

artículo científico publicado en 2015

Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

scientific article published on 24 December 2009

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients

article

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

artículo científico publicado en 2011

Cerebral hemorrhages in CADASIL: report of four cases and a brief review

artículo científico publicado en 2013

Clinical, familial, and neuroimaging features of CADASIL-like patients

artículo científico publicado en 2014

Facial affect recognition in CADASIL patients

artículo científico publicado en 2012

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

artículo científico publicado en 2013

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

artículo científico publicado en 2011

First report of an Iraqi Kurdish CADASIL patient

artículo científico publicado en 2010

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers

scientific article published on 04 February 2020

Hereditary cerebral small vessel diseases: A review ⬇️

artículo científico publicado el 4 de agosto de 2012

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

artículo científico publicado en 2016

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

artículo científico publicado en 2014

High lipoprotein(a) serum levels in three CADASIL families

Homozygosity and severity of phenotypic presentation in a CADASIL family.

artículo científico publicado en 2013

Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.

artículo científico publicado en 2012

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.

artículo científico publicado en 2012

Two novel HTRA1 mutations in a European CARASIL patient

artículo científico publicado en 2014

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

artículo científico publicado en 2012

Visual System Involvement in CADASIL ⬇️

artículo científico publicado el 28 de abril de 2013

Lista de obras de Silvia Bianchi

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene

Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

Cerebral hemorrhages in CADASIL: report of four cases and a brief review

Clinical, familial, and neuroimaging features of CADASIL-like patients

Facial affect recognition in CADASIL patients

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family

First report of an Iraqi Kurdish CADASIL patient

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers

Hereditary cerebral small vessel diseases: A review ⬇️

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

High lipoprotein(a) serum levels in three CADASIL families

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.

Two novel HTRA1 mutations in a European CARASIL patient

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

Visual System Involvement in CADASIL ⬇️