arrow
R

Roger Pamphlett

Westmead Hospital
H指数:43
被引数:8,588

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

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
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
A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity

与肌萎缩性侧索硬化症相关的罕见CACNA1H变体导致Cav3.2 T型通道活性完全丧失

2020-03-0615
OAAI