메뉴 건너뛰기




Volumn 39, Issue 3, 2005, Pages 226-229

Fragile X-associated tremor/ataxia syndrome;Zespół drżenia i ataksji zwiazany z zespołem łamliwego chromosomu X

Author keywords

Fragile X syndrome; Genetic counseling; Neurodegenerative disorder; Premutation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FMR1 PROTEIN, HUMAN; NERVE PROTEIN; RNA BINDING PROTEIN;

EID: 21644458533     PISSN: 00283843     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (17)
  • 1
    • 21644487262 scopus 로고    scopus 로고
    • OMIM Adres
    • OMIM Adres: http://WWW.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550.
  • 2
    • 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 M.L. 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
  • 3
    • 0141994818 scopus 로고    scopus 로고
    • Fragile balance: FMR1 expression levels
    • Oostra B.A., Willemsen R.A fragile balance: FMR1 expression levels. Hum Mol Genet 2003; 12: 249-257.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 249-257
    • Oostra, B.A.1    Willemsen, R.A.2
  • 4
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • i wsp
    • Hagerman R.J., Leehey M., Heinrichs W. i wsp. 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
  • 5
    • 0037384643 scopus 로고    scopus 로고
    • Fragile X premutation tremor/ataxia syndrome: Molecular, clinical and neuroimaging correlates
    • i wsp
    • Jacquemont S., Hagerman R.J., Leehey M. i wsp. Fragile X premutation tremor/ataxia syndrome: molecular, clinical and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-878.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3
  • 6
    • 9144252520 scopus 로고    scopus 로고
    • Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
    • i wsp
    • Jacquemont S., Hagerman R.J., Leehey M.A. i wsp. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004; 291: 460-469.
    • (2004) JAMA , vol.291 , pp. 460-469
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.A.3
  • 7
    • 0038754166 scopus 로고    scopus 로고
    • Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
    • i wsp
    • Berry-Kravis E., Lewin F., Wuu J. i wsp. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 2003; 53: 616-623.
    • (2003) Ann. Neurol. , vol.53 , pp. 616-623
    • Berry-Kravis, E.1    Lewin, F.2    Wuu, J.3
  • 8
    • 0037229944 scopus 로고    scopus 로고
    • The fragile X premutation presenting as essential tremor
    • i wsp
    • Leehey M.A., Munhoz R.P., Lang A.E. i wsp. The fragile X premutation presenting as essential tremor. Arch Neurol 2003; 60: 117-121.
    • (2003) Arch. Neurol. , vol.60 , pp. 117-121
    • Leehey, M.A.1    Munhoz, R.P.2    Lang, A.E.3
  • 9
    • 0038281167 scopus 로고    scopus 로고
    • Observation of an excess of fragile-X premutations in population of males referred with spinocerebellar ataxia
    • i wsp
    • Macpherson J., Waghorn A., Hammans S. i wsp. Observation of an excess of fragile-X premutations in 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
  • 10
    • 0041630707 scopus 로고    scopus 로고
    • Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome
    • Rogers C., Partington M.W., Turner G.M. Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome. Clin Genet 2003; 64: 54-56.
    • (2003) Clin. Genet. , vol.64 , pp. 54-56
    • Rogers, C.1    Partington, M.W.2    Turner, G.M.3
  • 11
    • 0036846189 scopus 로고    scopus 로고
    • Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    • i wsp
    • Brunberg J.A., Jacquemont S., Hagerman R.J. i wsp. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR 2002; 23: 1757-1766.
    • (2002) AJNR , vol.23 , pp. 1757-1766
    • Brunberg, J.A.1    Jacquemont, S.2    Hagerman, R.J.3
  • 12
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • i wsp
    • Greco C.M., Hagerman R.J., Tassone F. i wsp. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002; 125: 1760-1771.
    • (2002) Brain , vol.125 , pp. 1760-1771
    • Greco, C.M.1    Hagerman, R.J.2    Tassone, F.3
  • 13
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    • i wsp
    • Primerano B., Tassone F., Hagerman R.J. i wsp. 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
  • 14
    • 0036591683 scopus 로고    scopus 로고
    • The fragile X premutation: Into the phenotypic fold
    • Hagerman R.J., Hagerman P.J. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002; 12: 278-283.
    • (2002) Curr. Opin. Genet. Dev. , vol.12 , pp. 278-283
    • Hagerman, R.J.1    Hagerman, P.J.2
  • 15
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR 1 mRNA in carrier males: A new mechanism of involvement in the fragile X syndrome
    • i wsp
    • Tassone F., Hagerman R.J., Taylor A.K. i wsp. Elevated levels of FMR 1 mRNA in carrier males: a new mechanism of involvement in the 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
  • 16
    • 14944385602 scopus 로고    scopus 로고
    • Parkinsonism, FXTAS and FMR1 premutation
    • i wsp
    • Toft M., Aasly J., Bisceglio G. i wsp. Parkinsonism, FXTAS and FMR1 premutation. Mov Disord 2005; 20: 230-233.
    • (2005) Mov. Disord. , vol.20 , pp. 230-233
    • Toft, M.1    Aasly, J.2    Bisceglio, G.3
  • 17
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: A maturing perspective
    • Hagerman P.J., Hagerman R.J. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004; 74: 805-816.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.