Carsten G. Bönnemann

机构：National Institutes of Health, St. Jude Children's Research Hospital, National Institute of Neurological Disorders and Stroke · ORCID：0000-0002-5930-2324

发表论文 536 篇 · 总被引 22960 次 · h-index 77

代表论文

Effects of HMG CoA reductase ( HMGCR ) deficiency on skeletal muscle development (2025 · FEBS Journal · 被引 7)
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy (2025 · Genetics in Medicine · 被引 5)
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy (2025 · Neurology · 被引 4)
Clinical characterization of Collagen XII ‐related disease caused by biallelic COL12A1 variants (2025 · Annals of Clinical and Translational Neurology · 被引 4)
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel (2025 · Journal of Neuromuscular Diseases · 被引 3)
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants (2025 · Brain · 被引 3)