IR@PKUHSC  > 北京大学第三临床医学院  > 神经内科
学科主题临床医学
Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing
He, Ji1,2,3; Mangelsdorf, Marie1; Fan, Dongsheng2; Bartlett, Perry1; Brown, Matthew A.3
关键词amyotrophic lateral sclerosis genetic study epigenetic study genome-wide association study next-generation sequencing study
刊名NEUROSCIENTIST
2015-12-01
DOI10.1177/1073858414555404
21期:6页:599-615
收录类别SCI
文章类型Review
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]INFLAMMATORY-BOWEL-DISEASE ; MOTOR-NEURON DISEASE ; FRONTOTEMPORAL LOBAR DEGENERATION ; HEXANUCLEOTIDE REPEAT EXPANSION ; DE-NOVO MUTATIONS ; SPORADIC ALS ; COMPLEX TRAITS ; SMN1 GENE ; LINKAGE STRATEGIES ; NATURAL-HISTORY
英文摘要

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed.

语种英语
WOS记录号WOS:000364573400007
项目编号81030019
资助机构National Natural Sciences Foundation of China ; Ross Maclean Senior Research Fellowship ; National Health and Medical Research Council (Australia)
引用统计
被引频次:13[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60552
专题北京大学第三临床医学院_神经内科
作者单位1.Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia
2.Peking Univ, Hosp 3, Dept Neurol, Beijing 100871, Peoples R China
3.Princess Alexandra Hosp, Translat Res Inst, Univ Queensland Diamantina Inst, Brisbane, Qld 4102, Australia
推荐引用方式
GB/T 7714
He, Ji,Mangelsdorf, Marie,Fan, Dongsheng,et al. Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing[J]. NEUROSCIENTIST,2015,21(6):599-615.
APA He, Ji,Mangelsdorf, Marie,Fan, Dongsheng,Bartlett, Perry,&Brown, Matthew A..(2015).Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.NEUROSCIENTIST,21(6),599-615.
MLA He, Ji,et al."Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing".NEUROSCIENTIST 21.6(2015):599-615.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[He, Ji]的文章
[Mangelsdorf, Marie]的文章
[Fan, Dongsheng]的文章
百度学术
百度学术中相似的文章
[He, Ji]的文章
[Mangelsdorf, Marie]的文章
[Fan, Dongsheng]的文章
必应学术
必应学术中相似的文章
[He, Ji]的文章
[Mangelsdorf, Marie]的文章
[Fan, Dongsheng]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。