Gabriella Silvestri

Rome, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 120 publications

A Novel RORA Hinge-Region Variant in Adult IDDECA With Cerebellar Atrophy and Marked Response to Valproate.

A Novel RORA Hinge-Region Variant in Adult IDDECA With Cerebellar Atrophy and Marked Response to Valproate.

Journal: European journal of neurology
Published: April 08, 2026

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia.

Journal: Annals of clinical and translational neurology
Published: March 27, 2026

Reorganization of functional brain network architecture in SPG4: Evidence from resting-state fMRI.

Reorganization of functional brain network architecture in SPG4: Evidence from resting-state fMRI.

Journal: Parkinsonism & related disorders
Published: March 09, 2026

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: December 13, 2025

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patients.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: December 13, 2025

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: September 26, 2025

Miglustat does not impact clinical progression in patients with spastic paraplegia type 11.

Miglustat does not impact clinical progression in patients with spastic paraplegia type 11.

Journal: Neurogenetics
Published: August 28, 2025

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 27, 2025

Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1-Spinocerebellar Ataxia 50.

Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1-Spinocerebellar Ataxia 50.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 01, 2025

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Journal: Brain : a journal of neurology
Published: June 13, 2025

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Journal: Brain : a journal of neurology
Published: June 13, 2025

Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.

Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 27, 2025
Showing 1-12 of 120

Last Updated: 09/26/2026