Silvia Bianchi

Siena, Italy

Last Updated: 09/26/2026

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Found 41 publications

A novel CHMP2B variant of uncertain significance in a patient with apathy, hyperorality, and mild language impairment.

A novel CHMP2B variant of uncertain significance in a patient with apathy, hyperorality, and mild language impairment.

Journal: Acta neurologica Belgica

Published: April 03, 2026

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.

Journal: Biomolecules

Published: August 12, 2025

Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings.

Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings.

Journal: European journal of neurology

Published: July 07, 2025

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

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

Journal: Cells

Published: July 21, 2024

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Journal: EBioMedicine

Published: March 03, 2024

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

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

Journal: Journal of clinical medicine

Published: February 11, 2024

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Journal: Cells

Published: December 15, 2023

FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years.

FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years.

Journal: Neurology. Genetics

Published: July 21, 2023

Familial Alzheimer's disease associated with heterozygous NPC1 mutation.

Familial Alzheimer's disease associated with heterozygous NPC1 mutation.

Journal: Journal of medical genetics

Published: February 14, 2023

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

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

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 20, 2022

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

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

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: March 23, 2022

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

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

Journal: Clinical neurology and neurosurgery

Published: May 03, 2021

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Last Updated: 09/26/2026