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

Silvia Bianchi, Enza Zicari, Alessandra Carluccio, +9

Journal of Neurology

Central ItalyPathologyGenetic StudyMedicineEpidemiology

Heterozygous mutations of <i><scp>HTRA</scp>1</i> gene in patients with familial cerebral small vessel disease

Ilaria Di Donato, Silvia Bianchi, Gian Nicola Gallus, +10

CNS Neuroscience & Therapeutics

Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI‐Tuscany Study

Emilia Salvadori, Anna Poggesi, Raffaella Valenti, +19

Alzheimer s & Dementia

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

Carla Battisti, Ilaria Di Donato, Silvia Bianchi, +7

Journal of Neurology

Hereditary Diffuse LeukoencephalopathyNeurological DisorderMedicineCsf1r GenePathology +9

Arterial Stiffness in Patients with Deep and Lobar Intracerebral Hemorrhage

Maurizio Acampa, Francesca Guideri, Ilaria Di Donato, +5

Journal of Stroke

Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis

Claudia Vinciguerra, Antonio Giorgio, J. Zhang, +6

Multiple Sclerosis and Related Disorders

Skeletonized Mean DiffusivityNeurological DisorderWhite MatterNeuroimagingBrain Injury +8

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases

Ilaria Taglia, Ilaria Di Donato, Silvia Bianchi, +7

Acta Neurologica Scandinavica

HTRA1 expression profile and activity on TGF‐β signaling in <i>HTRA1</i> mutation carriers

Alessandro Fasano, Patrizia Formichi, Ilaria Taglia, +5

Journal of Cellular Physiology

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Ilaria Di Donato, Antonio Gallo, Ivana Ricca, +15

Neurological Sciences

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

Silvia Bianchi, Maria Teresa Dotti, Gian Nicola Gallus, +7

Neurobiology of Aging

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +8