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Neurology
Volumn 83, Issue 3, 2014, Pages 287-288
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
Author keywords

[No Author keywords available]
Indexed keywords

ADULT; ATAXIA; HUMANS; MALE; MUTATION; MYOCLONUS; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;
EID: 84905815356     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000600     Document Type: Article
Times cited : (34)
References (7)
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    • (2012) Hum Mutat , vol.33 , pp. 1324-1332
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  • 2
    • 84884416457 scopus 로고    scopus 로고
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    • Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013;14:681-691.
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    • Boycott, K.M.1    Vanstone, M.R.2    Bulman, D.E.3    MacKenzie, A.E.4
  • 3
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 4
    • 84892971939 scopus 로고    scopus 로고
    • Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP
    • Shi CH, Schisler JC, Rubel CE, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet 2013;23: 1013-1024.
    • (2013) Hum Mol Genet , vol.23 , pp. 1013-1024
    • Shi, C.H.1    Schisler, J.C.2    Rubel, C.E.3
  • 5
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    • CHIP: A link between the chaperone and proteasome systems
    • McDonough H, Patterson C. CHIP: a link between the chaperone and proteasome systems. Cell Stress Chaperones 2003;8:303-308.
    • (2003) Cell Stress Chaperones , vol.8 , pp. 303-308
    • McDonough, H.1    Patterson, C.2
  • 6
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    • Cross-functional E3 ligases Parkin and C-terminus Hsp70-interacting protein in neurodegenerative disorders
    • Kumar P, Pradhan K, Karunya R, Ambasta RK, Querfurth HW. Cross-functional E3 ligases Parkin and C-terminus Hsp70-interacting protein in neurodegenerative disorders. J Neurochem 2012;120:350-370.
    • (2012) J Neurochem , vol.120 , pp. 350-370
    • Kumar, P.1    Pradhan, K.2    Karunya, R.3    Ambasta, R.K.4    Querfurth, H.W.5
  • 7
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502-1511..
    • (2013) N Engl J Med , vol.369 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.