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D

Dominic B. Rowe

Macquarie University
H指数:40
被引数:7,421

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Identity-by-descent to resolve reduced penetrance and advance gene discovery in neurodegenerative disease

基于亲缘关系的分析以解决神经退行性疾病中的遗传力降低问题并推动基因发现

Brain
IF11.7
2026-09-250
OAAI
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

致编辑的信: 神经元核内包涵体疾病中的Hornerin沉积: Park等人直接鉴定包涵体中具有成分偏倚区域的蛋白质 (2022)

2024-01-020
OAAI
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

散发性肌萎缩性侧索硬化症和额颞痴呆的短串联重复扩增

2023-05-0515
OAAI
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

DNA甲基化的全基因组研究显示ALS中代谢,炎症和胆固醇途径的改变

2022-02-2350
OA
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

肌萎缩性侧索硬化症的常见和罕见变异关联分析确定了15个具有不同遗传结构和神经元特异性生物学的风险位点 (第53卷,1636页,2021)

2022-01-311
OAAI
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

肌萎缩性侧索硬化症的常见和罕见变异关联分析确定了15个具有不同遗传结构和神经元特异性生物学的风险位点

2021-12-06235
OAAI
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
2021-04-2718
OAAI
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

全基因组DNA甲基化的荟萃分析确定了神经退行性疾病的共同关联

2021-03-2645
OAAI
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

全基因组荟萃分析发现ACSL5-ZDHHC6位点与ALS相关,并将体重减轻与疾病遗传学联系起来

2020-10-0145
OAAI