Anna Rubegni
5PUBLICATIONS
32CO-AUTHORS
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Publications (5)
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|Feb 23, 2024
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).Sara Aguti, Gian Nicola Gallus, Silvia Bianchi
|Mar 20, 2023
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.Claudia Nesti, Chiara Ticci, Anna Rubegni
|Feb 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies.Claudia Dosi, Anna Rubegni, Jacopo Baldacci
|Aug 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri
|Aug 07, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.Deborah Tolomeo, Daniele Orsucci, Claudia Nesti
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Frequent Collaborators
4 joint publications
Filippo Maria Santorelli
3 joint publications
Stefano Doccini
2 joint publications
Claudia Nesti
2 joint publications
Roberta Battini
2 joint publications
Giorgia Bruno
2 joint publications
Renzo Guerrini
2 joint publications
Diego Lopergolo
1 joint publications
Daniele Orsucci
1 joint publications
Simone Sampaolo
1 joint publications
Gabriella Silvestri
