Roberto Del Bo

Milan, Italy

Last Updated: 09/26/2026

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Found 49 publications

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

Journal: Frontiers in genetics

Published: February 11, 2026

RAB3A variants in ataxia and other neurodegenerative disorders.

RAB3A variants in ataxia and other neurodegenerative disorders.

Journal: Brain : a journal of neurology

Published: September 22, 2025

A novel DNM2 variant associated with centronuclear myopathy: a case report.

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Journal: Frontiers in genetics

Published: January 20, 2025

Adult-Onset Dystonia-Parkinsonism: Do Not Forget SERAC1.

Adult-Onset Dystonia-Parkinsonism: Do Not Forget SERAC1.

Journal: Movement disorders clinical practice

Published: December 08, 2024

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.

Journal: BMC neurology

Published: September 12, 2024

Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.

Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.

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

Published: July 15, 2024

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

Journal: Cell genomics

Published: April 01, 2024

Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS.

Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS.

Journal: Journal of neurology

Published: March 16, 2024

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.

Journal: Brain communications

Published: January 22, 2024

Soft cerebellar signs unveil RARS2-related epilepsy.

Soft cerebellar signs unveil RARS2-related epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: January 08, 2024

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.

Journal: Frontiers in neurology

Published: February 19, 2023

Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.

Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.

Journal: Annals of clinical and translational neurology

Published: May 27, 2022

Showing 1-12 of 49

Last Updated: 09/26/2026