Alessandra Ruggieri
Milan, Italy
Last Updated: 09/26/2026
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Found 27 publications
Autosomal recessive Bethlem myopathy: a 30-year journey.
Journal: Journal of neurology
Published: April 09, 2025
Evaluation of aggrephagy markers in myofibrillar myopathies.
Journal: Acta neuropathologica communications
Published: March 04, 2025
Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy.
Journal: Genes & diseases
Published: December 13, 2024
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Journal: Neurology
Published: August 05, 2024
Protein Aggregates and Aggrephagy in Myopathies.
Journal: International journal of molecular sciences
Published: March 30, 2023
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
Journal: Journal of neurology
Published: March 06, 2023
VCP-related myopathy: a case series and a review of literature.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: January 11, 2023
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Journal: Autophagy
Published: February 26, 2021
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Journal: Acta neuropathologica
Published: March 31, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Journal: Journal of neuromuscular diseases
Published: February 11, 2020
Last Updated: 09/26/2026