Marina Pedemonte

Genoa, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 65 publications

Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

Journal: European journal of human genetics : EJHG
Published: December 10, 2025

Hand X-ray metrics for assessing bone health and fracture risk in Duchenne muscular dystrophy: a cross-sectional study.

Hand X-ray metrics for assessing bone health and fracture risk in Duchenne muscular dystrophy: a cross-sectional study.

Journal: European journal of pediatrics
Published: August 22, 2025

A comprehensive framework for the interpretation of TTN missense variants.

A comprehensive framework for the interpretation of TTN missense variants.

Journal: Genome medicine
Published: July 17, 2025

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Journal: Biomolecules
Published: July 14, 2025

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.

Journal: HGG advances
Published: June 30, 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

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Journal: Molecular genetics & genomic medicine
Published: March 17, 2025

Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting.

Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting.

Journal: Frontiers in pediatrics
Published: December 04, 2024

Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability.

Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability.

Journal: Molecular neurobiology
Published: November 07, 2024

Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3-Year Study.

Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3-Year Study.

Journal: Muscle & nerve
Published: February 27, 2024

Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.

Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.

Journal: Cellular and molecular life sciences : CMLS
Published: February 25, 2024

The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.

The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.

Journal: Journal of neuromuscular diseases
Published: February 16, 2024
Showing 1-12 of 65

Last Updated: 09/26/2026