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Volumn 86, Issue 6, 2014, Pages 592-594

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE TRANSFER RNA LIGASE; TYROSINE TRANSFER RNA LIGASE;

EID: 84937512242     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12327     Document Type: Letter
Times cited : (37)

References (7)
  • 1
    • 84885668385 scopus 로고    scopus 로고
    • Clinical implications of genetic advances in Charcot-Marie-Tooth disease
    • Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013: 9: 562-571.
    • (2013) Nat Rev Neurol , vol.9 , pp. 562-571
    • Rossor, A.M.1    Polke, J.M.2    Houlden, H.3    Reilly, M.M.4
  • 2
    • 84885586767 scopus 로고    scopus 로고
    • Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
    • Gonzalez M, McLaughlin H, Houlden H et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry 2013: 84: 1247-1249.
    • (2013) J Neurol Neurosurg Psychiatry , vol.84 , pp. 1247-1249
    • Gonzalez, M.1    McLaughlin, H.2    Houlden, H.3
  • 3
    • 84871608495 scopus 로고    scopus 로고
    • A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
    • Vester A, Velez-Ruiz G, McLaughlin HM et al. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat 2013: 34: 191-199.
    • (2013) Hum Mutat , vol.34 , pp. 191-199
    • Vester, A.1    Velez-Ruiz, G.2    McLaughlin, H.M.3
  • 4
    • 84867454120 scopus 로고    scopus 로고
    • Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease
    • Choi BO, Koo SK, Park MH et al. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat 2012: 33: 1610-1615.
    • (2012) Hum Mutat , vol.33 , pp. 1610-1615
    • Choi, B.O.1    Koo, S.K.2    Park, M.H.3
  • 5
    • 9144242516 scopus 로고    scopus 로고
    • Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35
    • Jordanova A, Thomas FP, Guergueltcheva V et al. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet 2003: 73: 1423-1430.
    • (2003) Am J Hum Genet , vol.73 , pp. 1423-1430
    • Jordanova, A.1    Thomas, F.P.2    Guergueltcheva, V.3
  • 6
    • 31744448271 scopus 로고    scopus 로고
    • Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
    • Jordanova A, Irobi J, Thomas FP et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006: 38: 197-202.
    • (2006) Nat Genet , vol.38 , pp. 197-202
    • Jordanova, A.1    Irobi, J.2    Thomas, F.P.3
  • 7
    • 84872869235 scopus 로고    scopus 로고
    • Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V
    • Lee HJ, Park J, Nakhro K et al. Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. J Peripher Nerv Syst 2012: 17: 418-421.
    • (2012) J Peripher Nerv Syst , vol.17 , pp. 418-421
    • Lee, H.J.1    Park, J.2    Nakhro, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.