메뉴 건너뛰기




Volumn 258, Issue 7, 2011, Pages 1223-1227

Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic

Author keywords

Ataxia; Genetic instability; Pentanucleotide repeat; SCA31; SCA4

Indexed keywords

ATAXIN 1; GENOMIC DNA; SPINOCEREBELLAR ATAXIA TYPE 31 PROTEIN; SPINOCEREBELLAR ATAXIA TYPE 4 PROTEIN; UNCLASSIFIED DRUG;

EID: 79961030577     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5905-4     Document Type: Article
Times cited : (15)

References (13)
  • 1
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
    • DOI 10.1016/S1474-4422(04)00737-9, PII S1474442204007379
    • L Schöls P Bauer T Schmidt T Schulte O Riess 2004 Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis Lancet Neurol 3 291 304 15099544 10.1016/S1474-4422(04)00737-9 (Pubitemid 38510200)
    • (2004) Lancet Neurology , vol.3 , Issue.5 , pp. 291-304
    • Schols, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 2
    • 77955480316 scopus 로고    scopus 로고
    • Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias
    • 19890685 10.1007/s12311-009-0144-2
    • A Matilla-Dueñas I Sánchez M Corral-Juan A Dávalos R Alvarez P Latorre 2010 Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias Cerebellum 9 148 166 19890685 10.1007/s12311-009-0144-2
    • (2010) Cerebellum , vol.9 , pp. 148-166
    • Matilla-Dueñas, A.1    Sánchez, I.2    Corral-Juan, M.3    Dávalos, A.4    Alvarez, R.5    Latorre, P.6
  • 4
    • 0038119658 scopus 로고    scopus 로고
    • Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region
    • DOI 10.1007/s00415-003-1052-x
    • Y Hellenbroich S Bubel H Pawlack S Opitz P Vieregge E Schwinger C Zühlke 2003 Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region J Neurol 250 668 671 12796826 10.1007/s00415-003-1052-x 1:CAS:528: DC%2BD3sXnvVKju7s%3D (Pubitemid 36718352)
    • (2003) Journal of Neurology , vol.250 , Issue.6 , pp. 668-671
    • Hellenbroich, Y.1    Bubel, S.2    Pawlack, H.3    Opitz, S.4    Vieregge, P.5    Schwinger, E.6    Zuhlke, C.7
  • 6
    • 78650043023 scopus 로고    scopus 로고
    • Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
    • 20424877 10.1007/s10048-010-0245-6 1:CAS:528:DC%2BC3cXht1Smu7jN
    • H Sakai K Yoshida Y Shimizu H Morita S Ikeda N Matsumoto 2010 Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan Neurogenetics 11 409 415 20424877 10.1007/s10048-010-0245-6 1:CAS:528:DC%2BC3cXht1Smu7jN
    • (2010) Neurogenetics , vol.11 , pp. 409-415
    • Sakai, H.1    Yoshida, K.2    Shimizu, Y.3    Morita, H.4    Ikeda, S.5    Matsumoto, N.6
  • 9
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • 8421960 1:STN:280:DyaK3s7jsFSnuw%3D%3D
    • AE Harding 1993 Clinical features and classification of inherited ataxias Adv Neurol 61 1 14 8421960 1:STN:280:DyaK3s7jsFSnuw%3D%3D
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 10
    • 33745513217 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration
    • DOI 10.1007/s00702-005-0362-9
    • Y Hellenbroich K Gierga E Reusche E Schwinger T Deller RA de Vos C Zühlke U Rüb 2006 Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration J Neural Transm 113 829 843 16362839 10.1007/s00702-005-0362-9 1:STN:280:DC%2BD28zoslGksw%3D%3D (Pubitemid 43962778)
    • (2006) Journal of Neural Transmission , vol.113 , Issue.7 , pp. 829-843
    • Hellenbroich, Y.1    Gierga, K.2    Reusche, E.3    Schwinger, E.4    Deller, T.5    De Vos, R.A.I.6    Zuhlke, C.7    Rub, U.8
  • 11
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • K Flanigan K Gardner K Alderson B Galster B Otterud MF Leppert C Kaplan LJ Ptácek 1996 Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 Am J Hum Genet 59 392 399 8755926 1:CAS:528: DyaK28XkvFGrs7w%3D (Pubitemid 26266355)
    • (1996) American Journal of Human Genetics , vol.59 , Issue.2 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6    Kaplan, C.7    Ptacek, L.J.8
  • 12
    • 42549150241 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic
    • 18293026 10.1007/s00415-008-0771-4 1:CAS:528:DC%2BD1cXosValu7Y%3D
    • Y Hellenbroich V Bernard C Zühlke 2008 Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic J Neurol 255 612 613 18293026 10.1007/s00415-008-0771-4 1:CAS:528:DC%2BD1cXosValu7Y%3D
    • (2008) J Neurol , vol.255 , pp. 612-613
    • Hellenbroich, Y.1    Bernard, V.2    Zühlke, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.