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Volumn 41, Issue 4, 2014, Pages 508-511

An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE;

EID: 84901806193     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100018588     Document Type: Article
Times cited : (15)

References (12)
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    • Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies
    • DOI 10.1016/j.bbadis.2006.10.003, PII S0925443906002018
    • Abu-Baker A, Rouleau GA. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007;1772(2):173-85. (Pubitemid 46138035)
    • (2007) Biochimica et Biophysica Acta - Molecular Basis of Disease , vol.1772 , Issue.2 , pp. 173-185
    • Abu-Baker, A.1    Rouleau, G.A.2
  • 2
    • 14044279355 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy (OPMD): Analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism
    • DOI 10.1007/s00439-004-1235-2
    • Robinson DO, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. Hum Genet. 2005;116(4):267-71. (Pubitemid 40277238)
    • (2005) Human Genetics , vol.116 , Issue.4 , pp. 267-271
    • Robinson, D.O.1    Hammans, S.R.2    Read, S.P.3    Sillibourne, J.4
  • 4
    • 33947185940 scopus 로고    scopus 로고
    • Siblings with recessive oculopharyngeal muscular dystrophy
    • DOI 10.1016/j.nmd.2006.11.009, PII S0960896606006237
    • Hebbar S, Webberley MJ, Lunt P, Robinson DO. Siblings with recessive oculopharyngeal muscular dystrophy. Neuromuscul Disord. 2007;17(3):254-7. (Pubitemid 46413754)
    • (2007) Neuromuscular Disorders , vol.17 , Issue.3 , pp. 254-257
    • Hebbar, S.1    Webberley, M.J.2    Lunt, P.3    Robinson, D.O.4
  • 6
    • 34247556900 scopus 로고    scopus 로고
    • Variability of the recessive oculopharyngeal muscular dystrophy phenotype
    • DOI 10.1002/mus.20726
    • Semmler A, Kress W, Vielhaber S, Schroder R, Kornblum C. Variability of the recessive oculopharyngeal muscular dystrophy phenotype. Muscle Nerve. 2007;35(5):681-4. (Pubitemid 46676860)
    • (2007) Muscle and Nerve , vol.35 , Issue.5 , pp. 681-684
    • Semmler, A.1    Kress, W.2    Vielhaber, S.3    Schroder, R.4    Kornblum, C.5
  • 7
    • 84867334797 scopus 로고    scopus 로고
    • Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy
    • Tondo M, Gamez J, Gutierrez-Rivas E, Medel-Jimenez R, Martorell L. Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(8):1546-52.
    • (2012) J Neurol , vol.259 , Issue.8 , pp. 1546-1552
    • Tondo, M.1    Gamez, J.2    Gutierrez-Rivas, E.3    Medel-Jimenez, R.4    Martorell, L.5
  • 11
    • 69449085867 scopus 로고    scopus 로고
    • Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
    • Blumen SC, Bouchard JP, Brais B, et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology. 2009;73(8):596-601.
    • (2009) Neurology , vol.73 , Issue.8 , pp. 596-601
    • Blumen, S.C.1    Bouchard, J.P.2    Brais, B.3
  • 12
    • 84862583612 scopus 로고    scopus 로고
    • Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy
    • Dubbioso R, Moretta P, Manganelli F, et al. Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. J Neurol. 2012;259(5):833-7.
    • (2012) J Neurol , vol.259 , Issue.5 , pp. 833-837
    • Dubbioso, R.1    Moretta, P.2    Manganelli, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.