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Volumn 123, Issue 5, 2011, Pages 116-121

Exploring the correlates of intermediate CAG repeats in Huntington disease

Author keywords

Chorea; Genetic counseling; Huntingtin gene; Huntington disease; Intermediate repeats; Trinucleotide repeats

Indexed keywords

ALPRAZOLAM; PAROXETINE; TETRABENAZINE;

EID: 80052769417     PISSN: 00325481     EISSN: 19419260     Source Type: Journal    
DOI: 10.3810/pgm.2011.09.2466     Document Type: Article
Times cited : (56)

References (27)
  • 1
    • 80052722777 scopus 로고    scopus 로고
    • Huntington disease
    • LP Rowland, ed., Philadelphia, PA: Wolters Kluwer/Lippincott, Williams and Wilkins
    • Fahn S, Jankovic J. Huntington disease. In: LP Rowland, ed. Merritt's Textbook of Neurology. Philadelphia, PA: Wolters Kluwer/Lippincott, Williams and Wilkins, 2010:723-726.
    • (2010) Merritt's Textbook of Neurology , pp. 723-726
    • Fahn, S.1    Jankovic, J.2
  • 2
    • 33748321965 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles
    • Semaka A, Creighton S, Warby S, Hayden MR. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet. 2006;70(4):283-294.
    • (2006) Clin Genet , vol.70 , Issue.4 , pp. 283-294
    • Semaka, A.1    Creighton, S.2    Warby, S.3    Hayden, M.R.4
  • 3
    • 77956069555 scopus 로고    scopus 로고
    • Huntington's disease
    • Novak MJ, Tabrizi SJ. Huntington's disease. BMJ. 2010;340:c3109.
    • (2010) BMJ , vol.340
    • Novak, M.J.1    Tabrizi, S.J.2
  • 4
    • 58149457367 scopus 로고    scopus 로고
    • Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?
    • Herishanu YO, Parvari R, Pollack Y, et al. Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy? J Neurol Sci. 2009;277(1-2):143-146.
    • (2009) J Neurol Sci , vol.277 , Issue.1-2 , pp. 143-146
    • Herishanu, Y.O.1    Parvari, R.2    Pollack, Y.3
  • 7
    • 33847694688 scopus 로고    scopus 로고
    • Autopsy-proven Huntington's disease with 29 trinucleotide repeats
    • Kenney C, Powell S, Jankovic J. Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord. 2007;22(1):127-130.
    • (2007) Mov Disord , vol.22 , Issue.1 , pp. 127-130
    • Kenney, C.1    Powell, S.2    Jankovic, J.3
  • 8
    • 57049183020 scopus 로고    scopus 로고
    • Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats
    • Kenney C, Jankovic J. Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord. 2008;23(12):1795-1796.
    • (2008) Mov Disord , vol.23 , Issue.12 , pp. 1795-1796
    • Kenney, C.1    Jankovic, J.2
  • 9
    • 23444451921 scopus 로고
    • Huntington disease without CAG expansion: Phenocopies or errors in assignment?
    • Andrew SE, Goldberg YP, Kremer B, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet. 1994;54(5):852-863.
    • (1994) Am J Hum Genet , vol.54 , Issue.5 , pp. 852-863
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 10
    • 36048961737 scopus 로고    scopus 로고
    • Huntington's disease phenocopy syndromes
    • Wild EJ, Tabrizi SJ. Huntington's disease phenocopy syndromes. Curr Opin Neurol. 2007;20(6):681-687.
    • (2007) Curr Opin Neurol , vol.20 , Issue.6 , pp. 681-687
    • Wild, E.J.1    Tabrizi, S.J.2
  • 11
    • 84886082948 scopus 로고    scopus 로고
    • Longitudinal analysis of intermediate CAGn repeat length expansion in the Prospective Huntington Disease At-Risk Observational Study (PHAROS) [abstract]
    • Biglan KM, Jankovic J, Eberly S, et al. Longitudinal analysis of intermediate CAGn repeat length expansion in the Prospective Huntington Disease At-Risk Observational Study (PHAROS) [abstract]. Mov Disord. 2010.
    • (2010) Mov Disord
    • Biglan, K.M.1    Jankovic, J.2    Eberly, S.3
  • 12
    • 80052759239 scopus 로고    scopus 로고
    • Intermediate CAG repeats: Analysis of the Cooperative Huntington's Observational Research Trial
    • Ha A, Davidson A, Jankovic J. Intermediate CAG repeats: analysis of the Cooperative Huntington's Observational Research Trial. Neurotherapeutics. 2011;8:145.
    • (2011) Neurotherapeutics , vol.8 , pp. 145
    • Ha, A.1    Davidson, A.2    Jankovic, J.3
  • 13
    • 34147106542 scopus 로고    scopus 로고
    • Reduced penetrance alleles for Huntington's disease: A multi-centre direct observational study
    • Quarrell OW, Rigby AS, Barron L, et al. Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study. J Med Genet. 2007;44(3):e68.
    • (2007) J Med Genet , vol.44 , Issue.3
    • Quarrell, O.W.1    Rigby, A.S.2    Barron, L.3
  • 14
    • 33846225133 scopus 로고    scopus 로고
    • Huntington's disease
    • Walker FO. Huntington's disease. Lancet. 2007;369(9557):218-228.
    • (2007) Lancet , vol.369 , Issue.9557 , pp. 218-228
    • Walker, F.O.1
  • 15
    • 12144288251 scopus 로고    scopus 로고
    • U.S.-Venezuela Collaborative Research Project. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
    • Wexler NS, Lorimer J, Porter J, et al; U.S.-Venezuela Collaborative Research Project. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci USA. 2004;101(10):3498-3503.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.10 , pp. 3498-3503
    • Wexler, N.S.1    Lorimer, J.2    Porter, J.3
  • 16
    • 0030444263 scopus 로고    scopus 로고
    • Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease
    • Alford RL, Ashizawa T, Jankovic J, Caskey CT, Richards CS. Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. Am J Med Genet. 1996;66:281-286.
    • (1996) Am J Med Genet , vol.66 , pp. 281-286
    • Alford, R.L.1    Ashizawa, T.2    Jankovic, J.3    Caskey, C.T.4    Richards, C.S.5
  • 17
    • 77956413099 scopus 로고    scopus 로고
    • Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population
    • Sequeiros J, Ramos EM, Cerqueira J, et al. Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population. Clin Genet. 2010;78(4):381-387.
    • (2010) Clin Genet , vol.78 , Issue.4 , pp. 381-387
    • Sequeiros, J.1    Ramos, E.M.2    Cerqueira, J.3
  • 18
    • 53149098959 scopus 로고    scopus 로고
    • Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study
    • McNicoll CF, Latourelle JC, MacDonald ME, et al. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008;23(11):1596-1601.
    • (2008) Mov Disord , vol.23 , Issue.11 , pp. 1596-1601
    • McNicoll, C.F.1    Latourelle, J.C.2    Macdonald, M.E.3
  • 19
    • 0028882509 scopus 로고
    • Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
    • Goldberg YP, McMurray CT, Zeisler J, et al. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet. 1995;4(10):1911-1918.
    • (1995) Hum Mol Genet , vol.4 , Issue.10 , pp. 1911-1918
    • Goldberg, Y.P.1    McMurray, C.T.2    Zeisler, J.3
  • 20
    • 0042115272 scopus 로고    scopus 로고
    • Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
    • Chong SS, Almqvist E, Telenius H, et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet. 1997:6(2):301-309.
    • (1997) Hum Mol Genet , vol.6 , Issue.2 , pp. 301-309
    • Chong, S.S.1    Almqvist, E.2    Telenius, H.3
  • 21
    • 34249337762 scopus 로고    scopus 로고
    • OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
    • Kovtun IV, Liu Y, Bjoras M, Klungland A, Wilson SH, McMurray CT. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature. 2007;447(7143):447-452.
    • (2007) Nature , vol.447 , Issue.7143 , pp. 447-452
    • Kovtun, I.V.1    Liu, Y.2    Bjoras, M.3    Klungland, A.4    Wilson, S.H.5    McMurray, C.T.6
  • 22
    • 68049113685 scopus 로고    scopus 로고
    • Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
    • Swami M, Hendricks AE, Gillis T, et al. Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum Mol Genet. 2009;18(16):3039-3047.
    • (2009) Hum Mol Genet , vol.18 , Issue.16 , pp. 3039-3047
    • Swami, M.1    Hendricks, A.E.2    Gillis, T.3
  • 24
    • 77956147372 scopus 로고    scopus 로고
    • Neurodegeneration: An expansion in ALS genetics
    • Lagier-Tourenne C, Cleveland DW. Neurodegeneration: an expansion in ALS genetics. Nature. 2010;466(7310):1052-1053.
    • (2010) Nature , vol.466 , Issue.7310 , pp. 1052-1053
    • Lagier-Tourenne, C.1    Cleveland, D.W.2
  • 25
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010;466(7310):1069-1075.
    • (2010) Nature , vol.466 , Issue.7310 , pp. 1069-1075
    • Elden, A.C.1    Kim, H.J.2    Hart, M.P.3
  • 26
    • 67649887838 scopus 로고    scopus 로고
    • Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)
    • Hendricks AE, Latourelle JC, Lunetta KL, et al. Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet. 2009;149 A:1375-1381.
    • (2009) Am J Med Genet , vol.149 A , pp. 1375-1381
    • Hendricks, A.E.1    Latourelle, J.C.2    Lunetta, K.L.3
  • 27
    • 79955114300 scopus 로고    scopus 로고
    • Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene
    • Squitieri F, Esmaeilzadeh M, Ciarmiello A, Jankovic J. Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene. Mov Disord. 2011;26(5):925-927.
    • (2011) Mov Disord , vol.26 , Issue.5 , pp. 925-927
    • Squitieri, F.1    Esmaeilzadeh, M.2    Ciarmiello, A.3    Jankovic, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.