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Volumn 80, Issue 11, 2009, Pages 1283-1285

TARDBP in amyotrophic lateral sclerosis: Identification of a novel variant but absence of copy number variation

Author keywords

[No Author keywords available]

Indexed keywords

TAR DNA BINDING PROTEIN;

EID: 72249111989     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.166512     Document Type: Article
Times cited : (26)

References (14)
  • 2
    • 62149146109 scopus 로고    scopus 로고
    • Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
    • Daoud H, Valdmanis PN, Kabashi E, et al. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet 2009;46:112-114
    • (2009) J Med Genet , vol.46 , pp. 112-114
    • Daoud, H.1    Valdmanis, P.N.2    Kabashi, E.3
  • 4
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-1672
    • (2008) Science , vol.319 , pp. 1668-1672
    • Sreedharan, J.1    Blair, I.P.2    Tripathi, V.B.3
  • 5
    • 41949100148 scopus 로고    scopus 로고
    • TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: A genetic and histopathological analysis
    • Van Deerlin VM, Leverenz JB, Bekris LM, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008;7:409-416
    • (2008) Lancet Neurol , vol.7 , pp. 409-416
    • Van Deerlin, V.M.1    Leverenz, J.B.2    Bekris, L.M.3
  • 7
    • 51649124062 scopus 로고    scopus 로고
    • Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations
    • Kuhnlein P, Sperfeld AD, Vanmassenhove B, et al. Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch Neurol 2008;65:1185-1189
    • (2008) Arch Neurol , vol.65 , pp. 1185-1189
    • Kuhnlein, P.1    Sperfeld, A.D.2    Vanmassenhove, B.3
  • 9
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006;52:103-121
    • (2006) Neuron , vol.52 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 10
    • 48749087900 scopus 로고    scopus 로고
    • TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
    • Guerreiro RJ, Schymick JC, Crews C, et al. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS ONE 2008;3:e2450.
    • (2008) PLoS ONE , vol.3
    • Guerreiro, R.J.1    Schymick, J.C.2    Crews, C.3
  • 11
    • 67349161628 scopus 로고    scopus 로고
    • Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
    • Gijselinck I, Sleegers K, Engelborghs S, et al. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging 2009;30:1329-1331
    • (2009) Neurobiol Aging , vol.30 , pp. 1329-1331
    • Gijselinck, I.1    Sleegers, K.2    Engelborghs, S.3
  • 12
    • 52949094629 scopus 로고    scopus 로고
    • Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
    • Rutherford NJ, Zhang YJ, Baker M, et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008;4:e1000193.
    • (2008) PLoS Genet , vol.4
    • Rutherford, N.J.1    Zhang, Y.J.2    Baker, M.3
  • 13
    • 0035794665 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
    • DOI 10.1093/emboj/20.7.1774
    • Buratti E, Dork T, Zuccato E, et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001;20:1774-1784 (Pubitemid 32299413)
    • (2001) EMBO Journal , vol.20 , Issue.7 , pp. 1774-1784
    • Buratti, E.1    Dork, T.2    Zuccato, E.3    Pagani, F.4    Romano, M.5    Baralle, F.E.6
  • 14
    • 0037108967 scopus 로고    scopus 로고
    • Higher order arrangement of the eukaryotic nuclear bodies
    • Wang IF, Reddy NM, Shen CK. Higher order arrangement of the eukaryotic nuclear bodies. Proc Natl Acad Sci U S A 2002;99:13583-13588
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 13583-13588
    • Wang, I.F.1    Reddy, N.M.2    Shen, C.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.