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Volumn 48, Issue 2, 2017, Pages 131-

Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 14; FIBROBLAST GROWTH FACTOR;

EID: 85012922014     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0037-1598110     Document Type: Note
Times cited : (14)

References (5)
  • 1
    • 33645536601 scopus 로고    scopus 로고
    • Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype
    • Brusse E de Koning I Maat-Kievit A Oostra B A Heutink P van Swieten J C Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype Mov Disord 2006 21 3 396 401
    • (2006) Mov Disord , vol.21 , Issue.3 , pp. 396-401
    • Brusse, E.1    De Koning, I.2    Maat-Kievit, A.3    Oostra, B.A.4    Heutink, P.5    Van Swieten, J.C.6
  • 2
    • 0037219826 scopus 로고    scopus 로고
    • A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
    • Erratum in: Am J Hum Genet 2003 Apr;72(4):1078
    • van Swieten J C Brusse E de Graaf B M, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected] Am J Hum Genet 2003 72 1 191 199 Erratum in: Am J Hum Genet 2003 Apr;72(4):1078
    • (2003) Am J Hum Genet , vol.72 , Issue.1 , pp. 191-199
    • Van Swieten, J.C.1    Brusse, E.2    De Graaf, B.M.3
  • 4
    • 84892443614 scopus 로고    scopus 로고
    • FGF14 regulates presynaptic Ca2+ channels and synaptic transmission
    • Yan H Pablo J L Pitt G S FGF14 regulates presynaptic Ca2+ channels and synaptic transmission Cell Reports 2013 4 1 66 75
    • (2013) Cell Reports , vol.4 , Issue.1 , pp. 66-75
    • Yan, H.1    Pablo, J.L.2    Pitt, G.S.3
  • 5
    • 12744261497 scopus 로고    scopus 로고
    • Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias
    • Dalski A Atici J Kreuz F R Hellenbroich Y Schwinger E Zühlke C Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias Eur J Hum Genet 2005 13 1 118 120
    • (2005) Eur J Hum Genet , vol.13 , Issue.1 , pp. 118-120
    • Dalski, A.1    Atici, J.2    Kreuz, F.R.3    Hellenbroich, Y.4    Schwinger, E.5    Zühlke, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.