메뉴 건너뛰기




Volumn 80, Issue 5, 2011, Pages 503-504

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA NEOENDORPHIN; DYNORPHIN A; DYNORPHIN B; PDYN PROTEIN; PROTEIN PRECURSOR; UNCLASSIFIED DRUG;

EID: 80053533227     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01651.x     Document Type: Letter
Times cited : (9)

References (6)
  • 1
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
    • Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004: 3: 291-304.
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schols, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 2
    • 36549023424 scopus 로고    scopus 로고
    • Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
    • Houlden H, Johnson J, Gardner-Thorpe C et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet 2007: 39: 1434-1436.
    • (2007) Nat Genet , vol.39 , pp. 1434-1436
    • Houlden, H.1    Johnson, J.2    Gardner-Thorpe, C.3
  • 3
    • 77950298030 scopus 로고    scopus 로고
    • Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
    • Di Bella D, Lazzaro F, Brusco A et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 2010: 42: 313-321.
    • (2010) Nat Genet , vol.42 , pp. 313-321
    • Di Bella, D.1    Lazzaro, F.2    Brusco, A.3
  • 4
    • 78249278153 scopus 로고    scopus 로고
    • Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
    • Bakalkin G, Watanabe H, Jezierska J et al. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet 2010: 87: 593-603.
    • (2010) Am J Hum Genet , vol.87 , pp. 593-603
    • Bakalkin, G.1    Watanabe, H.2    Jezierska, J.3
  • 5
    • 78649565715 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
    • Bauer P, Stevanin G, Beetz C et al. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 2010: 81: 1229-1232.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 1229-1232
    • Bauer, P.1    Stevanin, G.2    Beetz, C.3
  • 6
    • 77954916656 scopus 로고    scopus 로고
    • Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
    • Edener U, Wollner J, Hehr U et al. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur J Hum Genet 2010: 18: 965-968.
    • (2010) Eur J Hum Genet , vol.18 , pp. 965-968
    • Edener, U.1    Wollner, J.2    Hehr, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.