S. Bianchi

发表

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

N. De Stefano, M. Dichgans, L. Pantoni, 2017, BMC Medicine.

Facial affect recognition in CADASIL patients.

G. Castellini, L. Pantoni, D. Inzitari, 2013, Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists.

Right-to-Left Shunt in CADASIL Patients: Prevalence and Correlation With Clinical and MRI Findings

A. Federico, G. Cevenini, M. Dotti, 2008, Stroke.

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

L. Pantoni, D. Inzitari, M. Dotti, 2011, Journal of Neurology.

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

A. Federico, M. Dotti, A. Brusco, 2015, Journal of Alzheimer's disease : JAD.

Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients

L. Pantoni, D. Inzitari, A. Federico, 2004, European journal of neurology.

High lipoprotein(a) serum levels in three CADASIL families

L. Pantoni, D. Inzitari, F. Pescini, 2012, Journal of Neurology.

Visual system involvement in CADASIL.

A. Federico, M. Dotti, F. Rosini, 2013, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

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

A. Bowirrat, S. Bianchi, R. Shahien, 2011, Neuropsychiatric disease and treatment.

The spectrum of Notch3 mutations in 28 Italian CADASIL families

L. Pantoni, D. Inzitari, A. Federico, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Hereditary cerebral small vessel diseases: A review

A. Federico, M. Dotti, S. Bianchi, 2012, Journal of the Neurological Sciences.

Misdiagnosis in Fabry disease.

S. Bianchi, R. Reisin, A. Pardal, 2010, The Journal of pediatrics.

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease

L. Pantoni, D. Inzitari, A. Federico, 2017, CNS neuroscience & therapeutics.

Homozygosity and severity of phenotypic presentation in a CADASIL family

A. Federico, A. Malandrini, M. Dotti, 2013, Neurological Sciences.

The spectrum of mutations for CADASIL diagnosis

A. Federico, M. Dotti, S. Bianchi, 2005, Neurological Sciences.

DIAGNOSTIC VALUE OF ULTRASTRUCTURAL SKIN BIOPSY STUDIES IN CADASIL

A. Federico, A. Malandrini, A. Federico, 2007, Neurology.

Genetic leukoencephalopathies with unknown metabolic pathogenesis

A. Federico, M. Dotti, C. Battisti, 2001, Neurological Sciences.

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

L. Pantoni, D. Inzitari, A. Federico, 2013, Journal of the Neurological Sciences.

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

L. Pantoni, D. Inzitari, I. Donnini, 2012, The Journal of Headache and Pain.

Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient

L. Pantoni, D. Inzitari, A. Federico, 2006, Acta neurologica Scandinavica.

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

A. Federico, A. Malandrini, M. Dotti, 2004, Archives of neurology.

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

A. Federico, M. Dotti, C. Battisti, 2014, Journal of Neurology.

Cell response to oxidative stress induced apoptosis in patients with Leber’s hereditary optic neuropathy

A. Federico, P. Tosi, S. Tripodi, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

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

A. Federico, C. Battisti, S. Bianchi, 2016, Neurological Sciences.

Physiology and pathology of notch signalling system

A. Federico, M. Dotti, S. Bianchi, 2006, Journal of cellular physiology.

Primary familial brain calcification with mild phenotype due to a new PDGFB mutation

S. Bianchi, A. Mignarri, N. de Stefano, 2022, Neurological Sciences.

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients

L. Pantoni, D. Inzitari, A. Federico, 2010, Neurology.

Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

A. Federico, M. Dotti, M. Stromillo, 2004, Archives of neurology.

Notch3 protein expression in skin fibroblasts from CADASIL patients

L. Pantoni, M. Moccia, S. Bianchi, 2018, Journal of the Neurological Sciences.

Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

M. Battaglini, L. Pantoni, D. Inzitari, 2017, Neurological Sciences.

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

L. Pantoni, D. Inzitari, A. Federico, 2015, Acta neurologica Scandinavica.

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

L. Pantoni, D. Inzitari, A. Federico, 2014, Journal of Neurology.

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: A Screening Tool to Select Patients for NOTCH3 Gene Analysis

L. Pantoni, D. Inzitari, S. Chiti, 2012, Stroke.

Major depression and bipolar disorders in CADASIL: a study using the DSM‐IV semi‐structured interview

G. Castellini, L. Pantoni, D. Inzitari, 2011, Acta neurologica Scandinavica.

First report of an Iraqi Kurdish CADASIL patient

A. Federico, A. Malandrini, M. Dotti, 2011, Neurological Sciences.

Stroke recurrence in an elderly CADASIL patient on aspirin discontinuation due to severe auto-immune thrombocytopenia

L. Pantoni, D. Inzitari, M. Dotti, 2010, Aging clinical and experimental research.

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

B. Giusti, A. Gori, R. Abbate, 2009 .

Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

M. Battaglini, L. Pantoni, D. Inzitari, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient

L. Pantoni, D. Inzitari, A. Poggesi, 2008, Journal of the Neurological Sciences.

First report of a Romanian CADASIL patient following immigration to Italy

L. Pantoni, D. Inzitari, A. Federico, 2007, European journal of neurology.

Cardiac Autonomic Nervous System and Risk of Arrhythmias in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

A. Federico, G. Cevenini, M. Dotti, 2007, Stroke.

Systemic Blood Pressure Profile in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

A. Federico, G. Cevenini, M. Dotti, 2005, Stroke.

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

A. Federico, L. Pavone, E. Cardaioli, 2010, Molecular vision.

Two novel HTRA1 mutations in a European CARASIL patient

A. Federico, M. Dotti, D. Muresanu, 2014, Neurology.

Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models

A. Federico, L. Leoncini, P. Formichi, 2012, Journal of cellular physiology.

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

A. Federico, M. Dotti, R. Franceschini, 2017, Journal of the Neurological Sciences.

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

R. Agati, L. Sambati, S. Capellari, 2013, Neurological Sciences.

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

C. Di Perri, A. Federico, A. Malandrini, 2006, Neurology.

The first deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL

A. Federico, M. Dotti, A. Bruni, 2013, Neurobiology of Aging.

R. Marconi, A. Federico, M. Dotti, 2018, Acta neurologica Scandinavica.

MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

E. Malfatti, A. Federico, E. Cardaioli, 2009 .

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients

L. Pantoni, D. Inzitari, H. Markus, 2018, PloS one.

Pregnancy in CADASIL

L. Pantoni, D. Inzitari, A. Federico, 2017, Acta neurologica Scandinavica.

Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients.

B. Giusti, A. Gori, R. Abbate, 2017, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from the MIcrovascular LEukoencephalopathy Study (MILES)

L. Pantoni, D. Inzitari, A. Poggesi, 2014, European journal of neurology.

Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations

A. Federico, M. Dotti, P. Galluzzi, 2018, European journal of neurology.

Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene

A. Tessa, F. Santorelli, S. Bianchi, 2021, Clinical Neurology and Neurosurgery.

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

A. Federico, M. Dotti, P. Galluzzi, 2009, Journal of Neurology.

Ataxia with vitamin E deficiency: update of molecular diagnosis

A. Federico, A. Federico, S. Bianchi, 2010, Neurological Sciences.

Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies.

A. Federico, C. Battisti, P. Formichi, 2003, Journal of submicroscopic cytology and pathology.

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

A. Federico, F. Rosini, S. Bianchi, 2015, Neurological Sciences.

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

L. Pantoni, D. Inzitari, A. Federico, 2010, Journal of Neurology.

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

A. Federico, M. Dotti, C. Battisti, 2020, Journal of cellular physiology.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

B. Giusti, A. Gori, R. Abbate, 2006, Clinical and experimental hypertension.

Relationship between the morphological evaluation of the pituitary and the growth hormone (GH) response to GH-releasing hormone Plus arginine in children and adults with congenital hypopituitarism.

M. Maghnie, C. Tinelli, E. Ghigo, 2001, The Journal of clinical endocrinology and metabolism.

Intravenous thrombolysis in CADASIL: report of two cases and a systematic review

L. Pantoni, A. Poggesi, F. Pescini, 2022, Neurological Sciences.

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

B. Giusti, A. Gori, R. Abbate, 2010, Stroke.

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

A. Federico, A. Malandrini, M. Dotti, 2004, Archives of neurology.