Daniela Piga
Milan, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 23 publications
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
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
Journal: International journal of molecular sciences
Published: May 07, 2024
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.
Journal: Frontiers in neurology
Published: November 18, 2023
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
Journal: Frontiers in genetics
Published: August 16, 2023
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.
Journal: International journal of molecular sciences
Published: November 30, 2022
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.
Journal: Molecular genetics and metabolism reports
Published: April 21, 2022
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
Journal: Frontiers in genetics
Published: March 28, 2022
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Journal: Journal of the neurological sciences
Published: August 27, 2021
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies.
Journal: Frontiers in neurology
Published: February 05, 2021
Last Updated: 09/26/2026