Andrea Gaudio

Genoa, 16132, Italy

Last Updated: 09/26/2026

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Found 12 publications

GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies.

GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies.

Journal: International journal of molecular sciences

Published: March 17, 2025

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

Journal: Parkinsonism & related disorders

Published: December 10, 2024

Case report: A single novel calpain 3 gene variant associated with mild myopathy.

Case report: A single novel calpain 3 gene variant associated with mild myopathy.

Journal: Frontiers in genetics

Published: June 02, 2024

Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.

Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 22, 2024

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Journal: Journal of medical genetics

Published: March 27, 2024

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Journal: Journal of the peripheral nervous system : JPNS

Published: March 08, 2024

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Journal: Journal of the peripheral nervous system : JPNS

Published: September 07, 2023

Case report: Episodic ataxia without ataxia?

Case report: Episodic ataxia without ataxia?

Journal: Frontiers in neurology

Published: May 17, 2023

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 09, 2023

Genetics in Parkinson's disease, state-of-the-art and future perspectives.

Genetics in Parkinson's disease, state-of-the-art and future perspectives.

Journal: British medical bulletin

Published: October 08, 2022

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Journal: Pediatric neurology

Published: September 05, 2022

A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?

A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?

Journal: Parkinsonism & related disorders

Published: May 10, 2022

Showing 1-12 of 12

Last Updated: 09/26/2026