Damjan Osredkar

机构：University of Ljubljana, Leiden University Medical Center, Ljubljana University Medical Centre · ORCID：0000-0002-2188-420X

发表论文 161 篇 · 总被引 2392 次 · h-index 25

代表论文

Newborn screening programs for spinal muscular atrophy worldwide in 2023 (2024 · Journal of Neuromuscular Diseases · 被引 43)
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome (2025 · Human Genetics and Genomics Advances · 被引 5)
Plant-derived cannabinoids for treatment of spasticity in children and adolescents with severe cerebral palsy: Double-blind, placebo-controlled trial (2024 · European Journal of Paediatric Neurology · 被引 5)
Eculizumab for Thrombotic Microangiopathy Induced by Onasemnogene Abeparvovec in Spinal Muscular Atrophy (2025 · Case Reports in Nephrology and Dialysis · 被引 4)
An evolutionarily conserved role for CTNNB1/β-CATENIN in regulating the development of the corpus callosum (2025 · iScience · 被引 3)
Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia (2025 · Orphanet Journal of Rare Diseases · 被引 3)