메뉴 건너뛰기




Volumn 156, Issue 4, 2011, Pages 502-506

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism

Author keywords

Fragile X; MRI changes; Parkinson's disease

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; REPETITIVE DNA;

EID: 79955114553     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31189     Document Type: Article
Times cited : (17)

References (17)
  • 4
    • 58349111158 scopus 로고    scopus 로고
    • Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease
    • Hall DA, Howard K, Hagerman R, Leehey MA. 2009. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord 15: 156-159.
    • (2009) Parkinsonism Relat Disord , vol.15 , pp. 156-159
    • Hall, D.A.1    Howard, K.2    Hagerman, R.3    Leehey, M.A.4
  • 5
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ. 1992. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55: 181-184.
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 8
    • 70349508331 scopus 로고    scopus 로고
    • An improved diagnostic PCR assay for identification of cryptic heterozygosity for CGG triplet repeat alleles in the fragile X gene (FMR1)
    • Khaniani MS, Kalitsis P, Burgess T, Slater HR. 2008. An improved diagnostic PCR assay for identification of cryptic heterozygosity for CGG triplet repeat alleles in the fragile X gene (FMR1). Mol Cytogenet 1: 5.
    • (2008) Mol Cytogenet , vol.1 , pp. 5
    • Khaniani, M.S.1    Kalitsis, P.2    Burgess, T.3    Slater, H.R.4
  • 9
    • 74249119235 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: Clinical phenotype, diagnosis, and treatment
    • Leehey MA. 2009. Fragile X-associated tremor/ataxia syndrome: Clinical phenotype, diagnosis, and treatment. J Investig Med 57: 830-836.
    • (2009) J Investig Med , vol.57 , pp. 830-836
    • Leehey, M.A.1
  • 10
    • 17644421040 scopus 로고    scopus 로고
    • Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
    • Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F. 2005. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet 67: 412-417.
    • (2005) Clin Genet , vol.67 , pp. 412-417
    • Loesch, D.Z.1    Churchyard, A.2    Brotchie, P.3    Marot, M.4    Tassone, F.5
  • 11
    • 34147169493 scopus 로고    scopus 로고
    • Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
    • Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. 2007a. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet 44: 200-204.
    • (2007) J Med Genet , vol.44 , pp. 200-204
    • Loesch, D.Z.1    Bui, Q.M.2    Huggins, R.M.3    Mitchell, R.J.4    Hagerman, R.J.5    Tassone, F.6
  • 15
    • 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
    • Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. 2001. 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 3: 200-205.
    • (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
  • 16
    • 77951211393 scopus 로고    scopus 로고
    • Hyperintensity in the basis pontis: Atypical neuroradiological findings in a woman with FXTAS
    • Morís G, Arias M, López MV, Álvarez V. 2010. Hyperintensity in the basis pontis: Atypical neuroradiological findings in a woman with FXTAS. Move Disord 25: 649-650.
    • (2010) Move Disord , vol.25 , pp. 649-650
    • Morís, G.1    Arias, M.2    López, M.V.3    Álvarez, V.4
  • 17
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. 2000. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66: 6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.