Maria Alice Donati

机构：Meyer Children's Hospital · ORCID：0000-0003-4769-5025

发表论文 226 篇 · 总被引 9240 次 · h-index 50

代表论文

• Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy (2019 · Annals of Neurology · 被引 131)
• Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing (2019 · Human Mutation · 被引 52)
• Next-generation sequencing approach to hyperCKemia (2019 · Neurology Genetics · 被引 49)
• Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies (2023 · EClinicalMedicine · 被引 48)
• Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies (2022 · Neurology · 被引 47)
• Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis (2022 · Journal of Medical Genetics · 被引 42)