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学科主题: 临床医学
题名:
Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing
作者: 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
发表日期: 2015-12-01
DOI: 10.1177/1073858414555404
卷: 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
所属项目编号: 81030019
项目资助者: National Natural Sciences Foundation of China ; Ross Maclean Senior Research Fellowship ; National Health and Medical Research Council (Australia)
WOS记录号: WOS:000364573400007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60552
Appears in Collections:北京大学第三临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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