Giulia Ricci Professor Giorgio Tasca
| Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families | 2024 |
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Professor Giorgio Tasca Giulia Ricci
| Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients | 2024 |
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Giulia Ricci Phillip Cammish Professor Hanns Lochmuller Dr Teresinha Evangelista
| Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy | 2019 |
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Dr Veronika Boczonadi Giulia Ricci Professor Rita Horvath
| Mitochondrial DNA transcription and translation: clinical syndromes | 2018 |
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Dr Veronika Boczonadi Dr Helen Griffin Dr Andreas Roos Marina Bartsakoulia Dr Boglarka Bansagi et al. | Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons | 2018 |
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