메뉴 건너뛰기




Volumn 53, Issue 5, 2003, Pages 616-623

Tremor and ataxia in fragile X premutation carriers: Blinded videotape study

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GUANINE;

EID: 0038754166     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10522     Document Type: Article
Times cited : (95)

References (31)
  • 1
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat co-incident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJMH, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat co-incident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.M.H.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 2
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • Pieretti M, Zhang F, Fu Y-H, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991;66:817-822.
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.2    Fu, Y.-H.3
  • 3
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
    • Devys D, Lutz Y, Rouyer N, et al. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-340.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3
  • 4
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability and resolution of the Sherman paradox
    • Fu Y-H, Kohl DPA, Pizzuit A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability and resolution of the Sherman paradox. Cell 1991;67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.-H.1    Kohl, D.P.A.2    Pizzuit, A.3
  • 5
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene, and implications for the population genetics of the fragile X syndrome
    • Rousseau F, Rouillard P, Morel ML, et al. Prevalence of carriers of premutation-size alleles of the FMR1 gene, and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995;57:1006-1018.
    • (1995) Am J Hum Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.L.3
  • 6
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C, Levesque S, Morel ML, et al. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002;11:371-378.
    • (2002) Hum Mol Genet , vol.11 , pp. 371-378
    • Dombrowski, C.1    Levesque, S.2    Morel, M.L.3
  • 7
    • 0001966753 scopus 로고    scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Cronister A, eds. Baltimore: Johns Hopkins University Press
    • Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Cronister A, eds. Fragile X syndrome: diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 1996:3-87.
    • (1996) Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 3-87
    • Hagerman, R.J.1
  • 8
    • 0032696337 scopus 로고    scopus 로고
    • Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females
    • Franke P, Leboyer M, Hardt J, et al. Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females. Psychiatry Res 1999;87:223-231.
    • (1999) Psychiatry Res , vol.87 , pp. 223-231
    • Franke, P.1    Leboyer, M.2    Hardt, J.3
  • 9
    • 0034016083 scopus 로고    scopus 로고
    • Clinical involvement and protein expression in individuals with the FMR1 premutation
    • Tassone F, Hagerman RJ, Taylor AK, et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000;91:144-152.
    • (2000) Am J Med Genet , vol.91 , pp. 144-152
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3
  • 10
    • 0030054149 scopus 로고    scopus 로고
    • Learning disabled males with a fragile X CGG expansion in the upper premutation size range
    • Hagerman RJ, Staley LW, O'Connor R, et al. Learning disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics 1996;97:122-126.
    • (1996) Pediatrics , vol.97 , pp. 122-126
    • Hagerman, R.J.1    Staley, L.W.2    O'Connor, R.3
  • 11
    • 0029899583 scopus 로고    scopus 로고
    • Fragile X carrier females: Evidence for a distinct psychopathological phenotype
    • Franke P, Maier W, Hautzinger M, et al. Fragile X carrier females: evidence for a distinct psychopathological phenotype. Am J Med Genet 1996;64:334-339.
    • (1996) Am J Med Genet , vol.64 , pp. 334-339
    • Franke, P.1    Maier, W.2    Hautzinger, M.3
  • 13
    • 0034522229 scopus 로고    scopus 로고
    • Premature ovarian failure in the fragile X syndrome
    • Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;97:189-194.
    • (2000) Am J Med Genet , vol.97 , pp. 189-194
    • Sherman, S.L.1
  • 14
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in fragile X syndrome. Am J Hum Genet 2000;66:6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3
  • 15
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 16
    • 0000483330 scopus 로고    scopus 로고
    • Clinical Rating Scale for Tremor
    • Jankovic J, Tolosa E, eds. Baltimore, Munich: Urban and Schwarzenberg
    • Fahn S, Tolosa E, Marin C. Clinical Rating Scale for Tremor. In: Jankovic J, Tolosa E, eds. Parkinson's disease and movement disorders. Baltimore, Munich: Urban and Schwarzenberg, 1998:225-234.
    • (1998) Parkinson's Disease and Movement Disorders , pp. 225-234
    • Fahn, S.1    Tolosa, E.2    Marin, C.3
  • 17
    • 0030939011 scopus 로고    scopus 로고
    • International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome
    • Trouillas P, Takayanagi T, Hallet M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 1997;45:205-211.
    • (1997) J Neurol Sci , vol.45 , pp. 205-211
    • Trouillas, P.1    Takayanagi, T.2    Hallet, M.3
  • 18
    • 0000224448 scopus 로고
    • Unified Parkinson's Disease Rating Scale
    • Fahn S, Marsden CD, Calne DB, Godstein M, eds. Florham Park, NJ: Macmillan Health Care Information
    • Fahn S, Elton RL, and members of the UPDRS Development Committee. Unified Parkinson's Disease Rating Scale. In: Fahn S, Marsden CD, Calne DB, Godstein M, eds. Recent developments in Parkinson's disease. Florham Park, NJ: Macmillan Health Care Information, 1987:153-164.
    • (1987) Recent Developments in Parkinson's Disease , pp. 153-164
    • Fahn, S.1    Elton, R.L.2
  • 19
    • 0029007037 scopus 로고
    • Teaching tape for the motor section of the Unified Parkinson's Disease Rating Scale videotape accompanies text
    • Goetz CG, Stebbins GT, Chmura TA, et al. Teaching tape for the motor section of the Unified Parkinson's Disease Rating Scale videotape accompanies text. Mov Disord 1995;10:263-266.
    • (1995) Mov Disord , vol.10 , pp. 263-266
    • Goetz, C.G.1    Stebbins, G.T.2    Chmura, T.A.3
  • 20
    • 0036651239 scopus 로고    scopus 로고
    • Parkinsonism in multiple system atrophy: Natural history, severity (UODRS-III), and disability assessment compared with Parkinson's disease
    • Tison F, Yekhlef F, Chrysostome V, et al. Parkinsonism in multiple system atrophy: natural history, severity (UODRS-III), and disability assessment compared with Parkinson's disease. Mov Disord 2002;17:701-709.
    • (2002) Mov Disord , vol.17 , pp. 701-709
    • Tison, F.1    Yekhlef, F.2    Chrysostome, V.3
  • 21
    • 0028245479 scopus 로고
    • Improved sizing of fragile X CCG repeats by nested polymerase chain reaction
    • Levinson G, Maddalena A, Palmer FT, et al. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 1994;51:527-534.
    • (1994) Am J Med Genet , vol.51 , pp. 527-534
    • Levinson, G.1    Maddalena, A.2    Palmer, F.T.3
  • 22
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-1681.
    • (1991) N Engl J Med , vol.325 , pp. 1673-1681
    • Rousseau, F.1    Heitz, D.2    Biancalana, V.3
  • 23
    • 0031876080 scopus 로고    scopus 로고
    • Factor structure of the Unified Parkinson's Disease Rating Scale: Motor Examination Section
    • Stebbins GT, Goetz CG. Factor structure of the Unified Parkinson's Disease Rating Scale: Motor Examination Section. Mov Disord 1998;13:633-636.
    • (1998) Mov Disord , vol.13 , pp. 633-636
    • Stebbins, G.T.1    Goetz, C.G.2
  • 24
    • 0033428824 scopus 로고    scopus 로고
    • Factor analysis of the motor section of the Unified Parkinson's Disease Rating Scale during the off-state
    • Stebbins GT, Goetz CG, Lang AE, Cubo E. Factor analysis of the motor section of the Unified Parkinson's Disease Rating Scale during the off-state. Mov Disord 1999;13:585-589.
    • (1999) Mov Disord , vol.13 , pp. 585-589
    • Stebbins, G.T.1    Goetz, C.G.2    Lang, A.E.3    Cubo, E.4
  • 25
    • 0038521838 scopus 로고    scopus 로고
    • Tremor/ataxia syndrome in fragile X carrier males
    • Leehey M, Hagerman RJ, Landau WM, et al. Tremor/ataxia syndrome in fragile X carrier males. Mov Disord 2002;17:744-745.
    • (2002) Mov Disord , vol.17 , pp. 744-745
    • Leehey, M.1    Hagerman, R.J.2    Landau, W.M.3
  • 26
    • 0028989063 scopus 로고
    • Translational suppression by trinucleotide repeat expansion at FMR1
    • Feng Y, Zhang F, Lokey LK, et al. Translational suppression by trinucleotide repeat expansion at FMR1. Science 1995;268:731-734.
    • (1995) Science , vol.268 , pp. 731-734
    • Feng, Y.1    Zhang, F.2    Lokey, L.K.3
  • 27
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    • Primerano B, Tassone F, Hagerman RJ, et al. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002;8:1482-1488.
    • (2002) RNA , vol.8 , pp. 1482-1488
    • Primerano, B.1    Tassone, F.2    Hagerman, R.J.3
  • 28
    • 0035800470 scopus 로고    scopus 로고
    • Reconstructing myotonic dystrophy
    • Tapscott SJ, Thornton CA. Reconstructing myotonic dystrophy. Science 2001;293:816-817.
    • (2001) Science , vol.293 , pp. 816-817
    • Tapscott, S.J.1    Thornton, C.A.2
  • 29
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by CCTG expansion in intron of ZNF9
    • Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by CCTG expansion in intron of ZNF9. Science 2001;293:864-867.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3
  • 30
    • 0034622926 scopus 로고    scopus 로고
    • Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
    • Mankodi A, Logigian E, Callahan L, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000;289:1769-1772.
    • (2000) Science , vol.289 , pp. 1769-1772
    • Mankodi, A.1    Logigian, E.2    Callahan, L.3
  • 31
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur RS, Phillips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nature Genet 2001;29:40-47.
    • (2001) Nature Genet , vol.29 , pp. 40-47
    • Savkur, R.S.1    Phillips, A.V.2    Cooper, T.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.