Randall A. Heidenreich

发表论文 61 篇 · 总被引 2772 次 · h-index 27

代表论文

• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 (2014 · The American Journal of Human Genetics · 被引 226)
• Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease (2001 · Life Sciences · 被引 205)
• Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease (2003 · Journal of Biological Chemistry · 被引 139)
• Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments (2000 · Journal of Lipid Research · 被引 111)
• Fumaric aciduria: Clinical and imaging features (2000 · Annals of Neurology · 被引 100)
• Site-specific Phosphorylation of Tau Accompanied by Activation of Mitogen-activated Protein Kinase (MAPK) in Brains of Niemann-Pick Type C Mice (2001 · Journal of Biological Chemistry · 被引 99)