Serena Baratto

Genoa, Italy

Last Updated: 09/26/2026

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Found 32 publications

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

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Journal: Brain : a journal of neurology

Published: June 10, 2025

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Journal: Brain : a journal of neurology

Published: June 10, 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

Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.

Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.

Journal: ACS pharmacology & translational science

Published: February 19, 2025

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

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

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

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Journal: Brain : a journal of neurology

Published: December 14, 2023

Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations.

Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations.

Journal: International journal of molecular sciences

Published: November 15, 2023

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Journal: European journal of human genetics : EJHG

Published: August 25, 2023

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.

Journal: Acta neuropathologica communications

Published: August 11, 2023

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Last Updated: 09/26/2026