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Volumn 14, Issue 6, 2007, Pages

16q-linked autosomal dominant cerebellar ataxia in a Korean family [10]

Author keywords

Cerebellar ataxia; Korean family; Puratrophin 1

Indexed keywords

PROTEIN; PURATROPHIN 1; UNCLASSIFIED DRUG;

EID: 34249799937     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01818.x     Document Type: Letter
Times cited : (12)

References (7)
  • 1
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    • A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III
    • Owada K, Ishikawa K, Toru S, et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005 65 : 629 632.
    • (2005) Neurology , vol.65 , pp. 629-632
    • Owada, K.1    Ishikawa, K.2    Toru, S.3
  • 2
    • 22544448383 scopus 로고    scopus 로고
    • An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains
    • Ishikawa K, Toru S, Tsunemi T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. American Journal Human Genetics 2005 77 : 280 286.
    • (2005) American Journal Human Genetics , vol.77 , pp. 280-286
    • Ishikawa, K.1    Toru, S.2    Tsunemi, T.3
  • 3
    • 33744969581 scopus 로고    scopus 로고
    • A -16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
    • Ohata T, Yoshida K, Sakai H, et al. A -16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. Journal of Human Genetics 2006 51 : 461 466.
    • (2006) Journal of Human Genetics , vol.51 , pp. 461-466
    • Ohata, T.1    Yoshida, K.2    Sakai, H.3
  • 4
    • 33646448422 scopus 로고    scopus 로고
    • Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population
    • Wieczorek S, Arning L, Alheite I, Epplen JT. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. Journal of Human Genetics 2006 51 : 363 367.
    • (2006) Journal of Human Genetics , vol.51 , pp. 363-367
    • Wieczorek, S.1    Arning, L.2    Alheite, I.3    Epplen, J.T.4
  • 5
    • 0033081705 scopus 로고    scopus 로고
    • Consensus statement on the diagnosis of multiple system atrophy
    • Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. Journal of the Neurological Sciences 1999 163 : 94 98.
    • (1999) Journal of the Neurological Sciences , vol.163 , pp. 94-98
    • Gilman, S.1    Low, P.A.2    Quinn, N.3
  • 6
    • 0344009437 scopus 로고    scopus 로고
    • Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds
    • Bang OY, Huh K, Lee PH, Kim HJ. Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. Archives of Neurology 2003 60 : 1566 1574.
    • (2003) Archives of Neurology , vol.60 , pp. 1566-1574
    • Bang, O.Y.1    Huh, K.2    Lee, P.H.3    Kim, H.J.4
  • 7
    • 33748082650 scopus 로고    scopus 로고
    • 16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
    • Ouyang Y, Sakoe K, Shimazaki H, et al. 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. Journal of Neurological Sciences 2006 247 : 180 186.
    • (2006) Journal of Neurological Sciences , vol.247 , pp. 180-186
    • Ouyang, Y.1    Sakoe, K.2    Shimazaki, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.