Lucia Ruggiero

Naples, Italy

Last Updated: 09/26/2026

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Found 85 publications

Immune-mediated necrotizing myopathies: clinico-serological features and treatment outcomes of a large Italian cohort of patients.

Immune-mediated necrotizing myopathies: clinico-serological features and treatment outcomes of a large Italian cohort of patients.

Journal: Journal of neurology

Published: May 04, 2026

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years.

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years.

Journal: Journal of neurology

Published: March 26, 2026

Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy.

Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy.

Journal: Frontiers in neurology

Published: March 18, 2026

Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy.

Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy.

Journal: Journal of the neurological sciences

Published: February 20, 2026

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.

Journal: Antioxidants (Basel, Switzerland)

Published: September 30, 2025

Assessment of IBM-FRS total score and specific functional domains in a large cohort of inclusion body myositis patients.

Assessment of IBM-FRS total score and specific functional domains in a large cohort of inclusion body myositis patients.

Journal: Journal of neurology

Published: September 08, 2025

Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study.

Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 28, 2025

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.

Journal: Drugs in R&D

Published: May 04, 2025

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal: Journal of neurology

Published: March 03, 2025

Italian validation of the SMA independence scale-upper limb module.

Italian validation of the SMA independence scale-upper limb module.

Journal: European journal of pediatrics

Published: March 03, 2025

Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.

Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.

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

Published: December 03, 2024

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.

Journal: Antioxidants (Basel, Switzerland)

Published: October 03, 2024

Showing 1-12 of 85

Last Updated: 09/26/2026