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Volumn 12, Issue 1, 2008, Pages 135-138

Screening for FXTAS in 95 Spanish patients negative for Huntington disease

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 41449087951     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0074     Document Type: Article
Times cited : (14)

References (24)
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    • Deng, H.1    Le, W.2    Jankovic, J.3
  • 7
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    • The fragile-X premutation: A maturing perspective
    • Hagerman PJ, Hagerman RJ (2004) The fragile-X premutation: a maturing perspective. Am J Hum Genet 74:805-816.
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    • Hagerman, P.J.1    Hagerman, R.J.2
  • 9
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    • Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: Two faces of FMR1
    • Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA (2007) Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 6:45-55.
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    • Jacquemont, S.1    Hagerman, R.J.2    Hagerman, P.J.3    Leehey, M.A.4
  • 12
    • 23444442557 scopus 로고    scopus 로고
    • Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T; European Multiple System Atrophy Study Group (2005) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 128:1855-1860.
    • Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T; European Multiple System Atrophy Study Group (2005) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 128:1855-1860.
  • 14
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    • 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 (2003) Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum Genet 112:619-620.
    • (2003) Hum Genet , vol.112 , pp. 619-620
    • Macpherson, J.1    Waghorn, A.2    Hammans, S.3    Jacobs, P.4
  • 15
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    • Fragile X carrier screening and spinocerebellar ataxia in older males
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    • Tan EK, Zhao Y, Puong KY, Law HY, Chan LL, Yew K, Tan C, Shen H, Chandran VR, Teoh ML, Yih Y, Pavanni R, Wong MC, Ng IS (2004) Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 2006: 63: 362-363.
    • Tan EK, Zhao Y, Puong KY, Law HY, Chan LL, Yew K, Tan C, Shen H, Chandran VR, Teoh ML, Yih Y, Pavanni R, Wong MC, Ng IS (2004) Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 2006: 63: 362-363.
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    • Should we screen for FMR1 premutations in female subjects presenting with ataxia?
    • van Esch H, Matthijs G, Fryns JP (2005b) Should we screen for FMR1 premutations in female subjects presenting with ataxia? Ann Neurol 57:932-933.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.