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Volumn 9, Issue 2, 2013, Pages 63-64

Novel causal genes and disease modifiers

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; EPHRIN RECEPTOR A4; FUSED IN SARCOMA PROTEIN; TAR DNA BINDING PROTEIN; DNA BINDING PROTEIN; PROTEIN TDP-43;

EID: 84873730841     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2012.276     Document Type: Review
Times cited : (26)

References (10)
  • 1
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    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1
  • 2
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1
  • 3
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie, E. et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 11, 323-330 (2012).
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1
  • 4
    • 84870041158 scopus 로고    scopus 로고
    • How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders?
    • van Blitterswijk, M., DeJesus-Hernandez, M. & Rademakers, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr. Opin. Neurol. 25, 689-700 (2012).
    • (2012) Curr. Opin. Neurol , vol.25 , pp. 689-700
    • Van Blitterswijk, M.1    Dejesus-Hernandez, M.2    Rademakers, R.3
  • 5
    • 79952486262 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Kiernan, M. C. et al. Amyotrophic lateral sclerosis. Lancet 377, 942-955 (2011).
    • (2011) Lancet , vol.377 , pp. 942-955
    • Kiernan, M.C.1
  • 6
    • 84857612209 scopus 로고    scopus 로고
    • Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat
    • Hodges, J. Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. Brain 135, 652-655 (2012).
    • (2012) Brain , vol.135 , pp. 652-655
    • Hodges, J.1
  • 7
    • 84865071988 scopus 로고    scopus 로고
    • Evidence for an oligogenic basis of amyotrophic lateral sclerosis
    • van Blitterswijk, M. et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 3776-3784 (2012).
    • (2012) Hum. Mol. Genet , vol.21 , pp. 3776-3784
    • Van Blitterswijk, M.1
  • 8
    • 84865235172 scopus 로고    scopus 로고
    • Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
    • Wu, C. H. et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488, 499-503 (2012).
    • (2012) Nature , vol.488 , pp. 499-503
    • Wu, C.H.1
  • 9
    • 84868656581 scopus 로고    scopus 로고
    • EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
    • Van Hoecke, A. et al. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat. Med. 18, 1418-1422 (2012).
    • (2012) Nat. Med , vol.18 , pp. 1418-1422
    • Van Hoecke, A.1
  • 10
    • 84870572714 scopus 로고    scopus 로고
    • Inhibition of RNA lariat debranching enzyme suppresses TDP 43 toxicity in ALS disease models
    • Armakola, M. et al. Inhibition of RNA lariat debranching enzyme suppresses TDP 43 toxicity in ALS disease models. Nat. Genet. 44, 1302-1309 (2012).
    • (2012) Nat. Genet , vol.44 , pp. 1302-1309
    • Armakola, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.