메뉴 건너뛰기




Volumn 25, Issue 9, 2010, Pages 1098-1102

Muscular dystrophy surveillance tracking and research network (MD STARnet): Case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy

Author keywords

Becker muscular dystrophy; diagnostic testing; Duchenne muscular dystrophy; dystrophin

Indexed keywords

ARTICLE; BECKER MUSCULAR DYSTROPHY; BIRTH; CHILDHOOD DISEASE; COHORT ANALYSIS; CONSENSUS; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; DUCHENNE MUSCULAR DYSTROPHY; GENETIC SCREENING; HUMAN; MEDICAL RECORD REVIEW; MUSCLE BIOPSY; MUSCULAR DYSTROPHY SURVEILLANCE TRACKING AND RESEARCH NETWORK; OUTCOME ASSESSMENT; PATIENT IDENTIFICATION; POPULATION RESEARCH; PRIORITY JOURNAL; RATING SCALE;

EID: 77956325548     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810371001     Document Type: Article
Times cited : (58)

References (12)
  • 1
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M., Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 ; 50: 509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3
  • 2
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
    • Koenig M., Monaco AP, Kunkel LM The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 ; 53: 219-228.
    • (1988) Cell , vol.53 , pp. 219-228
    • Koenig, M.1    Monaco, A.P.2    Kunkel, L.M.3
  • 3
    • 0023718395 scopus 로고
    • Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface
    • Bonilla E., Samitt CE, Miranda AF, et al. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell. 1988 ; 54: 447-452.
    • (1988) Cell , vol.54 , pp. 447-452
    • Bonilla, E.1    Samitt, C.E.2    Miranda, A.F.3
  • 4
    • 33751174484 scopus 로고    scopus 로고
    • The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Surveillance methodology
    • Miller LA, Romitti PA, Cunniff C., et al. The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Res A Clin Mol Teratol. 2006 ; 76: 793-797.
    • (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , pp. 793-797
    • Miller, L.A.1    Romitti, P.A.2    Cunniff, C.3
  • 5
    • 18144383891 scopus 로고    scopus 로고
    • LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    • Schwartz M., Hertz JM, Sveen ML, Vissing J. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology. 2005 ; 64: 1635-1637.
    • (2005) Neurology , vol.64 , pp. 1635-1637
    • Schwartz, M.1    Hertz, J.M.2    Sveen, M.L.3    Vissing, J.4
  • 6
    • 70350046640 scopus 로고    scopus 로고
    • Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years-four states, 2007
    • Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years-four states, 2007. MMWR Morb Mortal Wkly Rep. 2009 ; 58: 1119-1122.
    • (2009) MMWR Morb Mortal Wkly Rep , vol.58 , pp. 1119-1122
  • 7
    • 0026375181 scopus 로고
    • Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy
    • Jennekens FG, ten Kate LP, de Visser M., Wintzen AR Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscul Disord. 1991 ; 1: 389-391.
    • (1991) Neuromuscul Disord , vol.1 , pp. 389-391
    • Jennekens, F.G.1    Ten Kate, L.P.2    De Visser, M.3    Wintzen, A.R.4
  • 8
    • 64249113041 scopus 로고    scopus 로고
    • Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy
    • Cunniff C., Andrews J., Meaney FJ, et al. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol. 2009 ; 24: 425-430.
    • (2009) J Child Neurol , vol.24 , pp. 425-430
    • Cunniff, C.1    Andrews, J.2    Meaney, F.J.3
  • 9
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 ; 16: 11141-11156.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3
  • 10
    • 0035964228 scopus 로고    scopus 로고
    • Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
    • Mendell JR, Buzin CH, Feng J., et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology. 2001 ; 57: 645-650.
    • (2001) Neurology , vol.57 , pp. 645-650
    • Mendell, J.R.1    Buzin, C.H.2    Feng, J.3
  • 11
    • 20144389134 scopus 로고    scopus 로고
    • Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
    • Dent KM, Dunn DM, von Niederhausern AC, et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A. 2005 ; 134: 295-298.
    • (2005) Am J Med Genet A , vol.134 , pp. 295-298
    • Dent, K.M.1    Dunn, D.M.2    Von Niederhausern, A.C.3
  • 12
    • 69249230932 scopus 로고    scopus 로고
    • Delayed diagnosis in Duchenne muscular dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
    • Ciafaloni E., Fox DJ, Pandya S., et al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009 ; 155: 380-385.
    • (2009) J Pediatr , vol.155 , pp. 380-385
    • Ciafaloni, E.1    Fox, D.J.2    Pandya, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.