Angela Lucia Berardinelli

机构：Fondazione Istituto Neurologico Nazionale Casimiro Mondino · ORCID：0000-0002-4645-8055

发表论文 216 篇 · 总被引 7687 次 · h-index 51

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)
• Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study (2022 · Acta Neuropathologica Communications · 被引 17)
• Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease (2022 · Journal of Neurology Neurosurgery & Psychiatry · 被引 16)
• Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 (2024 · EClinicalMedicine · 被引 14)
• Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity (2024 · Brain · 被引 14)