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Volumn 22, Issue 11, 2012, Pages 974-979

Epidemiological surveillance of myotonic dystrophy type 1: A 25-year population-based study

Author keywords

Epidemiological surveillance; Genetic services; Myotonic dystrophy; Population based study; Registry based study

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; AGING; ARTICLE; CANADA; CHILD; COHORT ANALYSIS; DEATH; DISEASE SURVEILLANCE; FEMALE; FERTILITY; GENETIC COUNSELING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MORTALITY; MYOTONIC DYSTROPHY; PHENOTYPE; POPULATION RESEARCH; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; TREND STUDY;

EID: 84868099970     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.05.017     Document Type: Article
Times cited : (43)

References (22)
  • 1
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley H.G., Brook J.D., Rundle S.A., et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992, 355:545-546.
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1    Brook, J.D.2    Rundle, S.A.3
  • 3
    • 0025266778 scopus 로고
    • Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)
    • Mathieu J., DeBraekeleer M., Prévost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 1990, 40:839-842.
    • (1990) Neurology , vol.40 , pp. 839-842
    • Mathieu, J.1    DeBraekeleer, M.2    Prévost, C.3
  • 4
    • 34547638618 scopus 로고    scopus 로고
    • Towards an integrative approach to the management of myotonic dystrophy type 1
    • Gagnon C., Noreau L., Moxley R.T., et al. Towards an integrative approach to the management of myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry 2007, 78:800-8006.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , pp. 800-8006
    • Gagnon, C.1    Noreau, L.2    Moxley, R.T.3
  • 5
    • 1842582474 scopus 로고    scopus 로고
    • Psychosocial impact of predictive testing for myotonic dystrophy type 1
    • Prévost C., Veillette S., Perron M., et al. Psychosocial impact of predictive testing for myotonic dystrophy type 1. Am J Med Genet 2004, 126A:68-77.
    • (2004) Am J Med Genet , vol.126 A , pp. 68-77
    • Prévost, C.1    Veillette, S.2    Perron, M.3
  • 6
    • 0024502957 scopus 로고
    • Criteria for establishing the validity of genetic recombination in myotonic dystrophy
    • The working group on the Molecular Defect in Myotonic Dystrophy
    • Griggs R.C., Wood D.S. Criteria for establishing the validity of genetic recombination in myotonic dystrophy. Neurology 1989, 39:420-421. The working group on the Molecular Defect in Myotonic Dystrophy.
    • (1989) Neurology , vol.39 , pp. 420-421
    • Griggs, R.C.1    Wood, D.S.2
  • 7
    • 0025794158 scopus 로고
    • Genetic risk for children of women with myotonic dystrophy
    • Koch M.C., Grimm T., Harley H.G., Harper P.S. Genetic risk for children of women with myotonic dystrophy. Am J Hum Genet 1991, 48:1084-1091.
    • (1991) Am J Hum Genet , vol.48 , pp. 1084-1091
    • Koch, M.C.1    Grimm, T.2    Harley, H.G.3    Harper, P.S.4
  • 8
    • 0035852861 scopus 로고    scopus 로고
    • Assessment of a disease-specific impairment rating scale in myotonic dystrophy
    • Mathieu J., Boivin H., Meunier D., et al. Assessment of a disease-specific impairment rating scale in myotonic dystrophy. Neurology 2001, 56:336-340.
    • (2001) Neurology , vol.56 , pp. 336-340
    • Mathieu, J.1    Boivin, H.2    Meunier, D.3
  • 9
    • 0026556498 scopus 로고
    • Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation
    • Mathieu J., De Breakeleer M., Prévost C., Boily C. Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology 1992, 42:203-208.
    • (1992) Neurology , vol.42 , pp. 203-208
    • Mathieu, J.1    De Breakeleer, M.2    Prévost, C.3    Boily, C.4
  • 10
    • 78751640452 scopus 로고    scopus 로고
    • Analysis of current multiple sclerosis registries
    • Hurwitz B.J. Analysis of current multiple sclerosis registries. Neurology 2011, 76:S7-S13.
    • (2011) Neurology , vol.76
    • Hurwitz, B.J.1
  • 11
    • 0026492096 scopus 로고
    • Fertility in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective
    • Dao T.N., Mathieu J., Bouchard J.P., De Braekeleer M. Fertility in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective. Clin Genet 1992, 42:234-239.
    • (1992) Clin Genet , vol.42 , pp. 234-239
    • Dao, T.N.1    Mathieu, J.2    Bouchard, J.P.3    De Braekeleer, M.4
  • 12
    • 84878941752 scopus 로고
    • Socio-cultural factors influencing the spread of myotonic dystrophy in the Saguenay-Lac-Saint-Jean region of the Province of Quebec (Canada)
    • MacMillan, London, D.F. Roberts, A.H. Bittles (Eds.)
    • Veillette S., Perron M., Mathieu J., Prévost C., Hébert G. Socio-cultural factors influencing the spread of myotonic dystrophy in the Saguenay-Lac-Saint-Jean region of the Province of Quebec (Canada). Genetics, demography and health in minority populations 1991, MacMillan, London. D.F. Roberts, A.H. Bittles (Eds.).
    • (1991) Genetics, demography and health in minority populations
    • Veillette, S.1    Perron, M.2    Mathieu, J.3    Prévost, C.4    Hébert, G.5
  • 13
    • 19244362641 scopus 로고    scopus 로고
    • Adverse psychological events occurring in the first year after predictive testing for Huntington's disease
    • Lawson K., Wiggins S., Green T., et al. Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. J Med Genet 1996, 33:856-862.
    • (1996) J Med Genet , vol.33 , pp. 856-862
    • Lawson, K.1    Wiggins, S.2    Green, T.3
  • 14
    • 0027501735 scopus 로고
    • Presymptomatic DNA testing for Huntington disease: identifying the need for psychological intervention
    • Tibben A., Duivenvoorden H.J., Verter-van der Vlis M., et al. Presymptomatic DNA testing for Huntington disease: identifying the need for psychological intervention. Am J Med Genet 1993, 48:137-144.
    • (1993) Am J Med Genet , vol.48 , pp. 137-144
    • Tibben, A.1    Duivenvoorden, H.J.2    Verter-van der Vlis, M.3
  • 15
    • 0026755956 scopus 로고
    • Five years experience of predictive testing for myotonic dystrophy using linked DNA markers
    • Reardon W., Floyd J.L., Myring J. Five years experience of predictive testing for myotonic dystrophy using linked DNA markers. Am J Med Genet 1992, 43:1006-1011.
    • (1992) Am J Med Genet , vol.43 , pp. 1006-1011
    • Reardon, W.1    Floyd, J.L.2    Myring, J.3
  • 16
    • 2642612786 scopus 로고    scopus 로고
    • Age and causes of death in adult-onset myotonic dystrophy
    • De Die-Smulders C.E.M., Höweler C.J., Thijs C., et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 1998, 121:1557-1563.
    • (1998) Brain , vol.121 , pp. 1557-1563
    • De Die-Smulders, C.E.M.1    Höweler, C.J.2    Thijs, C.3
  • 17
    • 0033549032 scopus 로고    scopus 로고
    • A ten-year study of mortality in a cohort of patients with myotonic dystrophy
    • Mathieu J., Allard P., Potvin L., Prévost C., Bégin P. A ten-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658-1662.
    • (1999) Neurology , vol.52 , pp. 1658-1662
    • Mathieu, J.1    Allard, P.2    Potvin, L.3    Prévost, C.4    Bégin, P.5
  • 18
    • 0009628056 scopus 로고
    • Dystrophia myotonica and allied diseases
    • Cambridge University Press, L.S. Penrose (Ed.)
    • Bell J. Dystrophia myotonica and allied diseases. Treasury of human inherance 4, part V 1947, Cambridge University Press. L.S. Penrose (Ed.).
    • (1947) Treasury of human inherance 4, part V
    • Bell, J.1
  • 19
    • 0004207391 scopus 로고
    • Aarhuus Universitetsforlaget, Denmark
    • Thomasen E. Myotonia 1948, Aarhuus Universitetsforlaget, Denmark.
    • (1948) Myotonia
    • Thomasen, E.1
  • 20
    • 0343137643 scopus 로고
    • La dystrophie myotonique (Steinert) et la myotonie congénitale (Thomsen) en Suisse
    • Klein D. La dystrophie myotonique (Steinert) et la myotonie congénitale (Thomsen) en Suisse. J Genet Hum 1958, 7(Suppl.):1-328.
    • (1958) J Genet Hum , vol.7 , Issue.SUPPL. , pp. 1-328
    • Klein, D.1
  • 21
    • 79955552757 scopus 로고    scopus 로고
    • Survival and CTG repeat expansion in adults with myotonic dystrophy type 1
    • Groh W., Groh M., Shen C., et al. Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. Muscle Nerve 2011, 43:648-651.
    • (2011) Muscle Nerve , vol.43 , pp. 648-651
    • Groh, W.1    Groh, M.2    Shen, C.3
  • 22
    • 0035002073 scopus 로고    scopus 로고
    • Epidemiology of myotonic dystrophy in Italy: re-appraisal after genetic diagnosis
    • Siciliano G., Manca M.L., Gennarelli M., et al. Epidemiology of myotonic dystrophy in Italy: re-appraisal after genetic diagnosis. Clin Genet 2001, 59:344-349.
    • (2001) Clin Genet , vol.59 , pp. 344-349
    • Siciliano, G.1    Manca, M.L.2    Gennarelli, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.