Maria Grazia D’Angelo
机构:IRCCS Eugenio Medea · ORCID:0000-0003-1241-4350
发表论文 322 篇 · 总被引 6772 次 · h-index 49
代表论文
- Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies (2022 · Neurology · 被引 47)
- Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? (2023 · Annals of Neurology · 被引 25)
- Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes (2023 · International Journal of Molecular Sciences · 被引 16)
- Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity (2024 · Brain · 被引 14)
- Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy (2024 · BMC Musculoskeletal Disorders · 被引 12)
- Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? (2023 · Journal of Neuromuscular Diseases · 被引 11)