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

PloS one, 2018-01, Vol.13 (1), p.e0190878-e0190878

2018

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

Journal of neurology, 2015-01, Vol.262 (1), p.134-141

2015

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Molecular Epidemiology of B3 and D8 Measles Viruses through Hemagglutinin Phylogenetic History

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4435

2020

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Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports

Journal of clinical medicine, 2024-04, Vol.13 (7), p.1870

2024

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Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

Cells (Basel, Switzerland), 2024-02, Vol.13 (4), p.329

2024

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CCDC78 : Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy

Cells (Basel, Switzerland), 2024-09, Vol.13 (17), p.1504

2024

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

Journal of neurology, 2011-09, Vol.258 (9), p.1632-1636

2011

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

Neurological sciences, 2022-10, Vol.43 (10), p.6091-6093

2022

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

BMC medicine, 2017-02, Vol.15 (1), p.41-41, Article 41

2017

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Letter to the editor: Further identification of a measles variant displaying mutations impacting molecular diagnostics, Northern Italy, 2024

Euro surveillance : bulletin européen sur les maladies transmissibles, 2024-02, Vol.29 (7)

2024

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

Clinical neurology and neurosurgery, 2021-08, Vol.207, p.106763-106763, Article 106763

2021

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

Journal of cellular physiology, 2020-10, Vol.235 (10), p.7120-7127

2020

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Familial Alzheimer’s disease associated with heterozygous NPC1 mutation

Journal of medical genetics, 2023-11, Vol.61 (4), p.332-339

2023

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Effect of Antenna-Depletion in Photosystem II on Excitation Energy Transfer in Arabidopsis thaliana

Biophysical journal, 2010-03, Vol.98 (5), p.922-931

2010

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

CNS neuroscience & therapeutics, 2017-09, Vol.23 (9), p.759-765

2017

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Genetic characterization of variants of HPV‑16, HPV‑18 and HPV‑52 circulating in Italy among general and high‑risk populations

Molecular medicine reports, 2020-02, Vol.21 (2), p.894-902

2020

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

Journal of neurology, 2014-04, Vol.261 (4), p.768-772

2014

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Physiology and pathology of notch signalling system

Journal of cellular physiology, 2006-05, Vol.207 (2), p.300-308

2006

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

Journal of Alzheimer's disease, 2015-01, Vol.47 (2), p.319-322

2015

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Homozygosity and severity of phenotypic presentation in a CADASIL family

Neurological sciences, 2014, Vol.35 (1), p.91-93

2014

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

Journal of headache and pain, 2012-06, Vol.13 (4), p.299-302

2012

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High lipoprotein(a) serum levels in three CADASIL families

Journal of neurology, 2012-02, Vol.259 (2), p.379-380

2012

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

Neuropsychiatric disease and treatment, 2011-01, Vol.7 (1), p.383-390

2011

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

Stroke (1970), 2008-07, Vol.39 (7), p.2155-2157

2008

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Rationale and design of a multicenter prospective cohort study for the eVALuation and monitoring of HPV infections and relATEd cervical diseases in high-risk women (VALHIDATE study)

BMC cancer, 2012-05, Vol.12 (1), p.204-204, Article 204

2012

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

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

Molecular Epidemiology of B3 and D8 Measles Viruses through Hemagglutinin Phylogenetic History

Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)

CCDC78 : Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy

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

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

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

Letter to the editor: Further identification of a measles variant displaying mutations impacting molecular diagnostics, Northern Italy, 2024

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

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

Familial Alzheimer’s disease associated with heterozygous NPC1 mutation

Effect of Antenna-Depletion in Photosystem II on Excitation Energy Transfer in Arabidopsis thaliana

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

Genetic characterization of variants of HPV‑16, HPV‑18 and HPV‑52 circulating in Italy among general and high‑risk populations

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

Physiology and pathology of notch signalling system

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

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

High lipoprotein(a) serum levels in three CADASIL families

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

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

Rationale and design of a multicenter prospective cohort study for the eVALuation and monitoring of HPV infections and relATEd cervical diseases in high-risk women (VALHIDATE study)

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