메뉴 건너뛰기




Volumn 60, Issue 8, 2003, Pages 1230-1231

The limb-girdle muscular dystrophies: Genetic and phenotypic definition of a disputed entity

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; CAVEOLIN; CREATINE KINASE; DYSFERLIN; MUTANT PROTEIN; SARCOGLYCAN;

EID: 0037461314     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.60.8.1230     Document Type: Editorial
Times cited : (16)

References (10)
  • 1
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954;77:169-231.
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 2
    • 0028835527 scopus 로고
    • Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
    • Bushby KMD. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromusc Disord 1995;5:71-74.
    • (1995) Neuromusc Disord , vol.5 , pp. 71-74
    • Bushby, K.M.D.1
  • 3
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies - Proposal for a new nomenclature
    • Bushby KMD, Beckmann JS. The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromusc Disord 1995;5:337-343.
    • (1995) Neuromusc Disord , vol.5 , pp. 337-343
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 4
    • 0036796396 scopus 로고    scopus 로고
    • Experimental and therapeutic approaches to muscular dystrophies
    • Skuk D, Vilquin JT, Tremblay JP. Experimental and therapeutic approaches to muscular dystrophies. Curr Opin Neurol 2002;15:563-569.
    • (2002) Curr Opin Neurol , vol.15 , pp. 563-569
    • Skuk, D.1    Vilquin, J.T.2    Tremblay, J.P.3
  • 5
    • 0037211475 scopus 로고    scopus 로고
    • The 105th ENMC sponsored workshop: Pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002
    • Bushby KMD, Beckmann JS. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. Neuromusc Disord 2003;13:80-90.
    • (2003) Neuromusc Disord , vol.13 , pp. 80-90
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 6
    • 0035845611 scopus 로고    scopus 로고
    • DNA microarray gene expression analysis technology and its application to neurological disorders
    • Greenberg SA. DNA microarray gene expression analysis technology and its application to neurological disorders. Neurology 2001;57:755-761.
    • (2001) Neurology , vol.57 , pp. 755-761
    • Greenberg, S.A.1
  • 7
    • 0037461292 scopus 로고    scopus 로고
    • The phenotype of limb-girdle muscular dystrophy type 2I
    • Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003;60:1246-1251.
    • (2003) Neurology , vol.60 , pp. 1246-1251
    • Poppe, M.1    Cree, L.2    Bourke, J.3
  • 8
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of a-dystroglycan
    • Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of a-dystroglycan. Am J Hum Genet 2001;69:1198-1209.
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 9
    • 0037461326 scopus 로고    scopus 로고
    • Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
    • Driss A, Noguchi S, Amouri R, et al. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology 2003;60:1341-1344.
    • (2003) Neurology , vol.60 , pp. 1341-1344
    • Driss, A.1    Noguchi, S.2    Amouri, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.