Martina Rimoldi

Milan, Italy

Last Updated: 09/26/2026

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Found 14 publications

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

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy.

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy.

Journal: Neurology. Genetics

Published: August 26, 2024

Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.

Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature.

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

Published: August 08, 2024

Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.

Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.

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

Published: March 30, 2024

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.

Journal: Frontiers in neurology

Published: November 18, 2023

Lafora Disease: A Case Report and Evolving Treatment Advancements.

Lafora Disease: A Case Report and Evolving Treatment Advancements.

Journal: Brain sciences

Published: October 18, 2023

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Journal: Cancers

Published: October 13, 2023

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Journal: Frontiers in neurology

Published: September 22, 2023

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.

Journal: Frontiers in neurology

Published: August 23, 2023

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.

Journal: Frontiers in genetics

Published: August 16, 2023

Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.

Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.

Journal: Frontiers in neurology

Published: February 20, 2023

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Journal: American journal of medical genetics. Part A

Published: June 01, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026