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Volumn 25, Issue 6, 2010, Pages 771-773

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Author keywords

Ataxia; Genetics; Inositol 1,4,5 triphosphate receptor type 1; SCA15; Spinocerebellar

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; INOSITOL 1,4,5 TRIPHOSPHATE RECEPTOR TYPE 1; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; UNCLASSIFIED DRUG;

EID: 77951810214     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22970     Document Type: Article
Times cited : (14)

References (8)
  • 1
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    • Molecular pathogenesis of spinocerebellar ataxias
    • Duenas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006;129:1357-1370.
    • (2006) Brain , vol.129 , pp. 1357-1370
    • Duenas, A.M.1    Goold, R.2    Giunti, P.3
  • 2
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 6
    • 40649126738 scopus 로고    scopus 로고
    • "SCA16" is really SCA15
    • Gardner RJ. "SCA16" is really SCA15. J Med Genet 2008;45:192.
    • (2008) J Med Genet , vol.45 , pp. 192
    • Gardner, R.J.1
  • 8
    • 54749151920 scopus 로고    scopus 로고
    • Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
    • Hara K, Shiga A, Nozaki H, et al. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology 2008;71:547-551.
    • (2008) Neurology , vol.71 , pp. 547-551
    • Hara, K.1    Shiga, A.2    Nozaki, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.