메뉴 건너뛰기




Volumn 7, Issue , 2011, Pages

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FRAGILE X MENTAL RETARDATION PROTEIN; FMR1 PROTEIN, HUMAN;

EID: 79957829884     PISSN: None     EISSN: 17449081     Source Type: Journal    
DOI: 10.1186/1744-9081-7-19     Document Type: Article
Times cited : (6)

References (39)
  • 1
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • 10.1146/annurev.ge.29.120195.003415, 8825491
    • Ashley CT, Warren ST. Trinucleotide repeat expansion and human disease. Annu Rev Genet 1995, 29:703-728. 10.1146/annurev.ge.29.120195.003415, 8825491.
    • (1995) Annu Rev Genet , vol.29 , pp. 703-728
    • Ashley, C.T.1    Warren, S.T.2
  • 3
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • 10.1016/0092-8674(91)90125-I, 1878973
    • Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991, 66:817-822. 10.1016/0092-8674(91)90125-I, 1878973.
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.P.2    Fu, Y.H.3    Warren, S.T.4    Oostra, B.A.5    Caskey, C.T.6    Nelson, D.L.7
  • 4
    • 18544371505 scopus 로고    scopus 로고
    • Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee
    • 10.1097/00125817-200105000-00010, 11388762
    • Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001, 3:200-205. 10.1097/00125817-200105000-00010, 11388762.
    • (2001) Genet Med , vol.3 , pp. 200-205
    • Maddalena, A.1    Richards, C.S.2    McGinniss, M.J.3    Brothman, A.4    Desnick, R.J.5    Grier, R.E.6    Hirsch, B.7    Jacky, P.8    McDowell, G.A.9    Popovich, B.10    Watson, M.11    Wolff, D.J.12
  • 7
    • 0141920804 scopus 로고    scopus 로고
    • Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population
    • 10.1007/s00439-003-0982-9, 12905066
    • Garcia Arocena D, Breece KE, Hagerman PJ. Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population. Hum Genet 2003, 113:371-376. 10.1007/s00439-003-0982-9, 12905066.
    • (2003) Hum Genet , vol.113 , pp. 371-376
    • Garcia Arocena, D.1    Breece, K.E.2    Hagerman, P.J.3
  • 11
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: a maturing perspective
    • 10.1086/386296, 1181976, 15052536
    • Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-816. 10.1086/386296, 1181976, 15052536.
    • (2004) Am J Hum Genet , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 12
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • 10.1093/brain/awf184, 12135967
    • Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002, 125:1760-1771. 10.1093/brain/awf184, 12135967.
    • (2002) Brain , vol.125 , pp. 1760-1771
    • Greco, C.M.1    Hagerman, R.J.2    Tassone, F.3    Chudley, A.E.4    Del Bigio, M.R.5    Jacquemont, S.6    Leehey, M.7    Hagerman, P.J.8
  • 13
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 10.4161/rna.1.2.1035, 17179750
    • Tassone F, Iwahashi C, Hagerman PJ. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 2004, 1:103-105. 10.4161/rna.1.2.1035, 17179750.
    • (2004) RNA Biol , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 17
    • 41149118992 scopus 로고    scopus 로고
    • Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia
    • 10.1080/01677060701686242, 18363164
    • Adams SA, Steenblock KJ, Thibodeau SN, Lindor NM. Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia. J Neurogenet 2008, 22:77-92. 10.1080/01677060701686242, 18363164.
    • (2008) J Neurogenet , vol.22 , pp. 77-92
    • Adams, S.A.1    Steenblock, K.J.2    Thibodeau, S.N.3    Lindor, N.M.4
  • 19
    • 0033612237 scopus 로고    scopus 로고
    • Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada
    • 10.1002/(SICI)1096-8628(19990528)84:3<195::AID-AJMG4>3.0.CO;2-1, 10331589
    • Patsalis PC, Sismani C, Hettinger JA, Holden JJ, Lawson JS, Chalifoux M, Wing M, Walker M, Leggo J. Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. Am J Med Genet 1999, 84:195-197. 10.1002/(SICI)1096-8628(19990528)84:3<195::AID-AJMG4>3.0.CO;2-1, 10331589.
    • (1999) Am J Med Genet , vol.84 , pp. 195-197
    • Patsalis, P.C.1    Sismani, C.2    Hettinger, J.A.3    Holden, J.J.4    Lawson, J.S.5    Chalifoux, M.6    Wing, M.7    Walker, M.8    Leggo, J.9
  • 23
    • 0038281167 scopus 로고    scopus 로고
    • Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
    • Macpherson J, Waghorn A, Hammans S, Jacobs P. Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum Genet 2003, 112:619-620.
    • (2003) Hum Genet , vol.112 , pp. 619-620
    • Macpherson, J.1    Waghorn, A.2    Hammans, S.3    Jacobs, P.4
  • 26
    • 1542378696 scopus 로고    scopus 로고
    • Fragile X carrier screening and spinocerebellar ataxia in older males
    • 10.1002/ajmg.a.20465, 14994246
    • Milunsky JM, Maher TA. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet 2004, 125A:320. 10.1002/ajmg.a.20465, 14994246.
    • (2004) Am J Med Genet , vol.125 A , pp. 320
    • Milunsky, J.M.1    Maher, T.A.2
  • 28
    • 12744262948 scopus 로고    scopus 로고
    • No association between FMR1 premutations and multiple system atrophy
    • 10.1007/s00415-004-0546-5, 15592742
    • Yabe I, Soma H, Takei A, Fujik N, Sasaki H. No association between FMR1 premutations and multiple system atrophy. J Neurol 2004, 251:1411-1412. 10.1007/s00415-004-0546-5, 15592742.
    • (2004) J Neurol , vol.251 , pp. 1411-1412
    • Yabe, I.1    Soma, H.2    Takei, A.3    Fujik, N.4    Sasaki, H.5
  • 29
    • 12744259994 scopus 로고    scopus 로고
    • FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers
    • 10.1007/s00415-004-0558-1, 15592745
    • Zuhlke C, Budnik A, Gehlken U, Dalski A, Purmann S, Naumann M, Schmidt M, Burk K, Schwinger E. FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers. J Neurol 2004, 251:1418-1419. 10.1007/s00415-004-0558-1, 15592745.
    • (2004) J Neurol , vol.251 , pp. 1418-1419
    • Zuhlke, C.1    Budnik, A.2    Gehlken, U.3    Dalski, A.4    Purmann, S.5    Naumann, M.6    Schmidt, M.7    Burk, K.8    Schwinger, E.9
  • 30
  • 39
    • 67349211531 scopus 로고    scopus 로고
    • The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study
    • 10.1007/s00415-009-0015-2, 19259763
    • Wardle M, Majounie E, Muzaimi MB, Williams NM, Morris HR, Robertson NP. The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. J Neurol 2009, 256:343-348. 10.1007/s00415-009-0015-2, 19259763.
    • (2009) J Neurol , vol.256 , pp. 343-348
    • Wardle, M.1    Majounie, E.2    Muzaimi, M.B.3    Williams, N.M.4    Morris, H.R.5    Robertson, N.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.