Alice B. Schindler

机构：National Institutes of Health, National Institute of Neurological Disorders and Stroke

发表论文 73 篇 · 总被引 1735 次 · h-index 20

代表论文

• Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters (2018 · Molecular Cell · 被引 263)
• Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11 (2014 · Annals of Clinical and Translational Neurology · 被引 125)
• Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease (2021 · Brain · 被引 70)
• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies (2019 · Neurology · 被引 54)
• Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat (2014 · Neuromuscular Disorders · 被引 46)
• Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability (2014 · Human Mutation · 被引 41)