Alessandro Geroldi

Genoa, Italy

Last Updated: 09/26/2026

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Found 38 publications

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Journal: Journal of child neurology

Published: August 18, 2025

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

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

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: March 18, 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

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: August 03, 2023

Case report: Episodic ataxia without ataxia?

Case report: Episodic ataxia without ataxia?

Journal: Frontiers in neurology

Published: May 17, 2023

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

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

Journal: Neuropathology and applied neurobiology

Published: March 07, 2022

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Last Updated: 09/26/2026