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Sep 2026
Duchenne muscular dystrophy (DMD) is an X-linked recessive dystrophinopathy characterized by progressive loss of muscle strength, respiratory insufficiency, cardiac dysfunction, and premature death. Despite a rapidly evolving therapeutic landscape that now includes multiple disease modifying treatments including exon s...
D. Weber, Alexandra Ahmet, K. Kinnett et al.
· Journal of Neuromuscular Dis... · 0 citations
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Review
Open access
Sep 2026
These recommendations, revised and approved by the Italian National Institute of Health, aim to provide clinicians with a structured and evidence-based approach to improve the early identification, diagnostic work-up, and management of pediatric patients with bone fragility, promoting standardized care and reducing var...
L. de Sanctis, G. Baroncelli, B. Pintaudi et al.
· Italian Journal of Pediatric... · 0 citations
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Review
Open access
Aug 2026
Findings support a role for RAS/MAPK pathway dysregulation in brain development and highlight the clinical value of MRI in selected patients with NS.
G. Patti, Nadia Gabriella Maiorano, F. Piccoli et al.
· Journal of Clinical Endocrin... · 0 citations
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