메뉴 건너뛰기




Volumn 8, Issue , 2007, Pages

LGMD2I in a North American population

Author keywords

[No Author keywords available]

Indexed keywords

FUKUTIN RELATED PROTEIN; FKRP PROTEIN, HUMAN; PROTEIN; UNCLASSIFIED DRUG;

EID: 38749092948     PISSN: None     EISSN: 14712474     Source Type: Journal    
DOI: 10.1186/1471-2474-8-115     Document Type: Article
Times cited : (30)

References (17)
  • 3
    • 12744279620 scopus 로고    scopus 로고
    • Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells
    • 10.1093/hmg/ddi026. 15574464
    • Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. CT Esapa RA McIlhinney DJ Blake, Hum Mol Genet 2005 14 2 295 305 10.1093/hmg/ddi026 15574464
    • (2005) Hum Mol Genet , vol.14 , Issue.2 , pp. 295-305
    • Esapa, C.T.1    McIlhinney, R.A.2    Blake, D.J.3
  • 5
    • 24944439901 scopus 로고    scopus 로고
    • Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
    • 10.1016/j.yexcr.2005.06.017. 16055117
    • Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. NF Dolatshad M Brockington S Torelli L Skordis U Wever DJ Wells F Muntoni SC Brown, Exp Cell Res 2005 309 2 370 378 10.1016/j.yexcr.2005.06.017 16055117
    • (2005) Exp Cell Res , vol.309 , Issue.2 , pp. 370-378
    • Dolatshad, N.F.1    Brockington, M.2    Torelli, S.3    Skordis, L.4    Wever, U.5    Wells, D.J.6    Muntoni, F.7    Brown, S.C.8
  • 9
    • 18144383891 scopus 로고    scopus 로고
    • LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    • 10.1212/01.WNL.0000157654.59374.E5. 15883334
    • LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. M Schwartz JM Hertz ML Sveen J Vissing, Neurology 2005 64 9 1635 1637 10.1212/01.WNL.0000157654.59374.E5 15883334
    • (2005) Neurology , vol.64 , Issue.9 , pp. 1635-1637
    • Schwartz, M.1    Hertz, J.M.2    Sveen, M.L.3    Vissing, J.4
  • 10
    • 33646353390 scopus 로고    scopus 로고
    • High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
    • 10.1002/ana.20824. 16634037
    • High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. ML Sveen M Schwartz J Vissing, Ann Neurol 2006 59 5 808 815 10.1002/ana.20824 16634037
    • (2006) Ann Neurol , vol.59 , Issue.5 , pp. 808-815
    • Sveen, M.L.1    Schwartz, M.2    Vissing, J.3
  • 17
    • 33750619100 scopus 로고    scopus 로고
    • Cardiac involvement in limb-girdle muscular dystrophy 2I: Conventional cardiac diagnostic and cardiovascular magnetic resonance
    • 10.1007/s00415-006-0213-0. 16786213
    • Cardiac involvement in limb-girdle muscular dystrophy 2I: conventional cardiac diagnostic and cardiovascular magnetic resonance. C Gaul M Deschauer C Tempelmann S Vielhaber HU Klein HJ Heinze S Zierz F Grothues, J Neurol 2006 253 10 1317 1322 10.1007/s00415-006-0213-0 16786213
    • (2006) J Neurol , vol.253 , Issue.10 , pp. 1317-1322
    • Gaul, C.1    Deschauer, M.2    Tempelmann, C.3    Vielhaber, S.4    Klein, H.U.5    Heinze, H.J.6    Zierz, S.7    Grothues, F.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.