Valentina Salsi

Modena, 41125, Italy

Last Updated: 09/26/2026

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Found 21 publications

A nucleolar view of neuromuscular disease.

A nucleolar view of neuromuscular disease.

Journal: Trends in molecular medicine

Published: May 25, 2026

Everything, everywhere: FSHD as a model for complex genetic disease.

Everything, everywhere: FSHD as a model for complex genetic disease.

Journal: Trends in genetics : TIG

Published: April 27, 2026

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats.

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats.

Journal: European journal of human genetics : EJHG

Published: September 25, 2025

Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis.

Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis.

Journal: Nucleic acids research

Published: April 14, 2025

Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

Journal: Clinical epigenetics

Published: March 15, 2024

The FSHD jigsaw: are we placing the tiles in the right position?

The FSHD jigsaw: are we placing the tiles in the right position?

Journal: Current opinion in neurology

Published: June 20, 2023

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.

Journal: BMC musculoskeletal disorders

Published: May 15, 2023

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.

Journal: Clinical genetics

Published: June 29, 2022

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.

Journal: Health science reports

Published: September 23, 2021

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.

Journal: Orphanet journal of rare diseases

Published: April 26, 2021

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Journal: International journal of molecular sciences

Published: March 02, 2020

Does DNA Methylation Matter in FSHD?

Does DNA Methylation Matter in FSHD?

Journal: Genes

Published: January 23, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026