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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)