Sabrina Salani

Milan, Italy

Last Updated: 09/26/2026

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Found 33 publications

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Journal: European journal of human genetics : EJHG

Published: August 08, 2025

An Ultrastructural and Proteomic Analysis in DM1 Young Adults' Myoblasts: Stressed RER and Mitochondrial Dysfunction Involvement.

An Ultrastructural and Proteomic Analysis in DM1 Young Adults' Myoblasts: Stressed RER and Mitochondrial Dysfunction Involvement.

Journal: Journal of cellular and molecular medicine

Published: July 08, 2025

Soft cerebellar signs unveil RARS2-related epilepsy.

Soft cerebellar signs unveil RARS2-related epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: January 08, 2024

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

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.

Journal: Cellular and molecular life sciences : CMLS

Published: April 14, 2023

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.

Journal: Cells

Published: March 16, 2023

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

Journal: European journal of human genetics : EJHG

Published: February 22, 2023

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Journal: International journal of molecular sciences

Published: November 30, 2022

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.

Journal: International journal of molecular sciences

Published: May 31, 2022

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.

Journal: Cell & bioscience

Published: November 02, 2021

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: February 17, 2021

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Journal: Annals of neurology

Published: October 01, 2020

Showing 1-12 of 33

Last Updated: 09/26/2026