Kenneth H. Fischbeck

机构：National Institutes of Health, National Institute of Neurological Disorders and Stroke · ORCID：0000-0002-8316-6895

发表论文 314 篇 · 总被引 26042 次 · h-index 78

代表论文

• Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation (2019 · The American Journal of Human Genetics · 被引 139)
• Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA) (2020 · Journal of Neurology Neurosurgery & Psychiatry · 被引 56)
• Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity (2021 · Science Advances · 被引 37)
• Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4 (2020 · Annals of Neurology · 被引 37)
• Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021 · Brain Communications · 被引 33)
• Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons (2020 · JCI Insight · 被引 29)