Sabrina Ravaglia

11PUBLICATIONS
31CO-AUTHORS
Medical mycologyGene mappingEpigenetics (incl. genome methylation and epigenomics)Medical biochemistry - proteins and peptides (incl. medical proteomics)Infectious diseases
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Publications (11)

|Jan 19, 2026
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.

Michele G Croce, Leonardo Barzaghi, Matteo Paoletti

|Mar 22, 2024
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.

Sabrina Ravaglia, Simone Gana, Enza Maria Valente

|Nov 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.

Stephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu

|May 15, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Paola De Filippi, Edoardo Errichiello, Antonio Toscano

|Jul 15, 2022
Guillain-Barré syndrome and COVID-19: A 1-year observational multicenter study.

Massimiliano Filosto, Stefano Cotti Piccinelli, Stefano Gazzina

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