Hagar Mor Shaked

机构：Hebrew University of Jerusalem, Hadassah Medical Center

发表论文 6 篇 · 总被引 93 次 · h-index 4

代表论文

• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia (2023 · Brain · 被引 36)
• Selective inhibition of platelet macroaggregate formation by a recombinant heparin-binding domain of human thrombospondin. (1994 · Arteriosclerosis and Thrombosis A Journal of Vascular Biology · 被引 31)
• Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia (2022 · International Journal of Molecular Sciences · 被引 11)
• A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay (2021 · Neurobiology of Aging · 被引 7)
• Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure (2023 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 4)
• Whole Exome Sequencing Accuracy in the Diagnosis of Primary Ciliary Dyskinesia (2020 · 被引 4)