Silvia Bianchi

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
    Silvia Bianchi
    Dept Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy
    Hum Genet 122:558. 2007
  2. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation
    Silvia Bianchi
    Dept Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy
    Hum Genet 122:558-9. 2007
  3. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy
    Hum Genet 118:535. 2005
  4. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy
    Hum Genet 118:534. 2005
  5. doi request reprint First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL
    Silvia Bianchi
    Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy
    Neurobiol Aging 34:2234.e9-12. 2013
  6. doi request reprint Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene
    Carla Battisti
    Neurology and Neurometabolic Diseases Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, Policlinico Santa Maria alle Scotte, Viale Bracci, 2, 53100, Siena, Italy
    J Neurol 261:768-72. 2014
  7. ncbi request reprint Peripheral neuropathy in CADASIL
    Francesco Sicurelli
    Dept of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol 252:1206-9. 2005
  8. doi request reprint Two novel HTRA1 mutations in a European CARASIL patient
    Silvia Bianchi
    From the Department of Medical, Surgical and Neurological Sciences S B, C D P, G N G, I T, A P, F R, A R, M T D, A F, University of Siena, Siena, Italy Department of Neurology D F M, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj Napoca, Romania and Neuroimaging and Neurointervention Unit A C, Azienda Ospedaliera Universitaria Senese, Policlinico Santa Maria alle Scotte, Siena, Italy
    Neurology 82:898-900. 2014
  9. ncbi request reprint Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 36:2554-8. 2005
  10. ncbi request reprint Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 38:276-80. 2007

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
    Silvia Bianchi
    Dept Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy
    Hum Genet 122:558. 2007
  2. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation
    Silvia Bianchi
    Dept Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy
    Hum Genet 122:558-9. 2007
  3. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy
    Hum Genet 118:535. 2005
  4. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy
    Hum Genet 118:534. 2005
  5. doi request reprint First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL
    Silvia Bianchi
    Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy
    Neurobiol Aging 34:2234.e9-12. 2013
    ..Our finding suggests that the assays used to evaluate splicing should be mandatory in the diagnostic setting of genetically undefined CADASIL cases...
  6. doi request reprint Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene
    Carla Battisti
    Neurology and Neurometabolic Diseases Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, Policlinico Santa Maria alle Scotte, Viale Bracci, 2, 53100, Siena, Italy
    J Neurol 261:768-72. 2014
    ..In all of these patients, behavioural and cognitive changes were preceded by an ischemic stroke-like episode. A positive family history was present in only one case...
  7. ncbi request reprint Peripheral neuropathy in CADASIL
    Francesco Sicurelli
    Dept of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol 252:1206-9. 2005
    ..The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse...
  8. doi request reprint Two novel HTRA1 mutations in a European CARASIL patient
    Silvia Bianchi
    From the Department of Medical, Surgical and Neurological Sciences S B, C D P, G N G, I T, A P, F R, A R, M T D, A F, University of Siena, Siena, Italy Department of Neurology D F M, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj Napoca, Romania and Neuroimaging and Neurointervention Unit A C, Azienda Ospedaliera Universitaria Senese, Policlinico Santa Maria alle Scotte, Siena, Italy
    Neurology 82:898-900. 2014
    ..1) The disease has been linked to mutations in the HTRA1 gene, encoding for serine protease HTRA1, loss of which causes dysregulation of transforming growth factor-β signaling.(2.) ..
  9. ncbi request reprint Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 36:2554-8. 2005
    ....
  10. ncbi request reprint Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 38:276-80. 2007
    ..The relationship of these changes with brain MRI pattern was also investigated...
  11. pmc Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy
    Gian Nicola Gallus
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, 53100 Siena, Italy
    Mol Vis 16:178-83. 2010
    ..Here we describe the clinical and molecular findings in a large Italian family with ADOA...
  12. ncbi request reprint A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL
    Maria Teresa Dotti
    Unit of Neurology and Neurometabolic Diseases, Department of Neurological and Behavioral Sciences, University of Siena, Italy
    Arch Neurol 61:942-5. 2004
    ..These mutations result in a gain or a loss of 1 (or, rarely, 3) cysteine residue in 1 of 34 epidermal growth factor-like repeats in the extracellular amino-terminal region of NOTCH3...
  13. doi request reprint Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics
    Carmen Stabile
    Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
    Neurol Sci 37:1565-9. 2016
    ..The aim of this paper is to review the literature data about the molecular genetic pattern of HDLS. ..
  14. doi request reprint Homozygosity and severity of phenotypic presentation in a CADASIL family
    Claudia Vinciguerra
    Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 35:91-3. 2014
    ..We discuss these findings in relationship to previous data from the literature in CADASIL and in other dominant neurological disorders...
  15. doi request reprint Hereditary cerebral small vessel diseases: a review
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    J Neurol Sci 322:25-30. 2012
    ..Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis...
  16. doi request reprint A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
    Ilaria Di Donato
    Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy
    J Alzheimers Dis 47:319-22. 2015
    ..Here we report a new case of HDLS, carrying a mutation in CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy. ..
  17. doi request reprint Visual system involvement in CADASIL
    Elena Pretegiani
    Department of Neurological, Neurosurgical, and Behavioural Sciences, University of Siena, Siena, Italy
    J Stroke Cerebrovasc Dis 22:1377-84. 2013
    ..Therefore, this study aims to precisely delineate the features and the prevalence of the visual system impairment in CADASIL...
  18. ncbi request reprint Physiology and pathology of notch signalling system
    Silvia Bianchi
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy
    J Cell Physiol 207:300-8. 2006
    ....
  19. doi request reprint Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models
    Giuseppe Di Maio
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Siena, Italy
    J Cell Physiol 227:1771-5. 2012
    ....
  20. ncbi request reprint Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Neurology and Neurometabolic Disease Unit, Center for the Diagnosis, Prevention, and Therapy of Neurological Handicap, Department of Behavioral and Neurological Sciences, University of Siena Medical School, Siena, Italy
    Arch Neurol 61:577-80. 2004
    ..The occurrence of acute visual loss due to nonarteritic anterior ischemic optic neuropathy (NAION) has not previously been reported in CADASIL...
  21. doi request reprint CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients
    Silvia Bianchi
    Department of Medical, Surgical and Neurological Sciences Medical School, University of Siena, Viale Bracci 2, Siena, Italy
    J Neurol 262:134-41. 2015
    ..Our study enlarges the number of pathogenic NOTCH3 mutations and due to the heterogeneous mutational spectrum observed suggests that full sequencing of exons 2-24 is mandatory for CADASIL screening in the Italian population...
  22. ncbi request reprint A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient
    Francesca Pescini
    Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy
    J Neurol Sci 267:170-3. 2008
    ..The newly reported mutation might sustain a milder expressivity of the disease...
  23. doi request reprint Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings
    Enza Zicari
    Stroke 39:2155-7. 2008
    ..The aim of this study was to determine the prevalence of RLS in patients with CADASIL and possible relation to clinical phenotype and cerebral MRI lesion load...