Barbara Gnutti

Brescia, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Integrated RNA sequencing and in vivo biosensor imaging define the early pathogenic cascade of Duchenne muscular dystrophy.

Integrated RNA sequencing and in vivo biosensor imaging define the early pathogenic cascade of Duchenne muscular dystrophy.

Journal: Translational research : the journal of laboratory and clinical medicine

Published: December 16, 2025

Targeted blocking of gene splicing can dysregulate intron-embedded primary microRNAs.

Targeted blocking of gene splicing can dysregulate intron-embedded primary microRNAs.

Journal: Communications biology

Published: May 30, 2025

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.

Journal: Brain sciences

Published: May 07, 2025

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy.

Journal: Communications biology

Published: September 13, 2024

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

Journal: Communications medicine

Published: June 14, 2024

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

Journal: European journal of human genetics : EJHG

Published: June 13, 2024

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.

Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.

Journal: International journal of molecular sciences

Published: June 20, 2023

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: September 24, 2022

Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration.

Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration.

Journal: Brain sciences

Published: July 09, 2021

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Journal: Scientific reports

Published: April 16, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026