Astrid Brull

机构：National Institutes of Health, National Institute of Neurological Disorders and Stroke · ORCID：0000-0002-3012-451X

发表论文 52 篇 · 总被引 578 次 · h-index 15

代表论文

• Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy (2020 · Cells · 被引 47)
• Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth (2020 · International Journal of Molecular Sciences · 被引 32)
• Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy (2024 · Molecular Therapy — Nucleic Acids · 被引 15)
• Lamin-related congenital muscular dystrophy alters mechanical signaling and skeletal muscle growth (2020 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 15)
• Absence of p.R50X Pygm read-through in McArdle disease cellular models (2019 · Disease Models & Mechanisms · 被引 10)
• Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy (2024 · Molecular Therapy — Nucleic Acids · 被引 9)