메뉴 건너뛰기




Volumn 50, Issue 11, 2013, Pages 776-783

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 9P; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; EXOME; EXON; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENOME; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PENETRANCE; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84890191949     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101795     Document Type: Article
Times cited : (146)

References (40)
  • 2
    • 84865172323 scopus 로고    scopus 로고
    • ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
    • Abel O, Powell JF, Andersen PM, Al-Chalabi A. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat 2012;33:1345-51.
    • (2012) Hum Mutat , vol.33 , pp. 1345-1351
    • Abel, O.1    Powell, J.F.2    Andersen, P.M.3    Al-Chalabi, A.4
  • 7
    • 84862794799 scopus 로고    scopus 로고
    • Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS
    • Kwon M-J, Baek W, Ki C-S, Kim HY, Koh S-H, Kim J-W, Kim SH. Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging 2012;33:1017.e17-23.
    • (2012) Neurobiol Aging , vol.33 , Issue.1017
    • Kwon, M.-J.1    Baek, W.2    Ki, C.-S.3    Kim, H.Y.4    Koh, S.-H.5    Kim, J.-W.6    Kim, S.H.7
  • 11
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010;26:589-95.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 14
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor
    • McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor. Bioinformatics 2010;26:2069-70.
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 17
    • 84878162250 scopus 로고    scopus 로고
    • Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants
    • Kenna KP, McLaughlin RL, Hardiman O, Bradley DG. Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants. Hum Mutat 2013;34:836-41.
    • (2013) Hum Mutat , vol.34 , pp. 836-841
    • Kenna, K.P.1    McLaughlin, R.L.2    Hardiman, O.3    Bradley, D.G.4
  • 28
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.