Marya S. Sabir

机构：National Institutes of Health, National Human Genome Research Institute, Cambridge Scholars Publishing · ORCID：0000-0001-6333-4049

发表论文 63 篇 · 总被引 1823 次 · h-index 18

代表论文

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021 · JAMA Neurology · 被引 85)
α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease (2021 · Movement Disorders · 被引 27)
Identification of putative transcriptomic biomarkers in irritable bowel syndrome (IBS): Differential gene expression and regulation of TPH1 and SERT by vitamin D (2022 · PLoS ONE · 被引 13)
Investigation of the genetic aetiology of Lewy body diseases with and without dementia (2024 · Brain Communications · 被引 12)
Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism (2025 · Scientific Reports · 被引 2)
Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk (2025 · Parkinsonism & Related Disorders · 被引 2)