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Volumn 20, Issue 7, 2005, Pages 619-620

Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children

Author keywords

[No Author keywords available]

Indexed keywords

APRATAXIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 24344472210     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200071701     Document Type: Article
Times cited : (8)

References (9)
  • 1
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    • The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
    • Moreira MC, Barbot C, Tachi N, et al: The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001;29:189-193.
    • (2001) Nat. Genet. , vol.29 , pp. 189-193
    • Moreira, M.C.1    Barbot, C.2    Tachi, N.3
  • 2
    • 0034790947 scopus 로고    scopus 로고
    • Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
    • Date H, Onodera O, Tanaka H, et al: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001;29:184-188.
    • (2001) Nat. Genet. , vol.29 , pp. 184-188
    • Date, H.1    Onodera, O.2    Tanaka, H.3
  • 3
    • 0035125621 scopus 로고    scopus 로고
    • Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
    • Moreira MC, Barbot C, Tachi N, et al: Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001; 68:501-508.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 501-508
    • Moreira, M.C.1    Barbot, C.2    Tachi, N.3
  • 4
    • 0034513418 scopus 로고    scopus 로고
    • Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23
    • Bomont P, Watanabe M, Gershoni-Barrush R, et al: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000;8:890-986.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 890-986
    • Bomont, P.1    Watanabe, M.2    Gershoni-Barrush, R.3
  • 5
    • 0033754489 scopus 로고    scopus 로고
    • Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
    • Nemeth AH, Bochukova E, Dunne E, et al: Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000;67:1320-1326.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1320-1326
    • Nemeth, A.H.1    Bochukova, E.2    Dunne, E.3
  • 6
    • 10744228698 scopus 로고    scopus 로고
    • Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein
    • Sano Y, Date H, Igarashi S, et al: Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol 2004;55:241-249.
    • (2004) Ann. Neurol. , vol.55 , pp. 241-249
    • Sano, Y.1    Date, H.2    Igarashi, S.3
  • 7
    • 0037432279 scopus 로고    scopus 로고
    • Phenotypic variability of aprataxin gene mutations
    • Tranchant C, Fleury M, Moreira MC, et al: Phenotypic variability of aprataxin gene mutations. Neurology 2003; 60:868-870.
    • (2003) Neurology , vol.60 , pp. 868-870
    • Tranchant, C.1    Fleury, M.2    Moreira, M.C.3
  • 8
    • 0344875066 scopus 로고    scopus 로고
    • Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies
    • Le Ber I, Moreira MC, Rivaud-Pechoux S, et al: Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain 2003;126:2761-2772.
    • (2003) Brain , vol.126 , pp. 2761-2772
    • Le Ber, I.1    Moreira, M.C.2    Rivaud-Pechoux, S.3
  • 9
    • 0035109757 scopus 로고    scopus 로고
    • Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients
    • Barbot C, Coutinoho P, Chorao R, et al: Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients. Arch Neurol 2001;58:201-205.
    • (2001) Arch. Neurol. , vol.58 , pp. 201-205
    • Barbot, C.1    Coutinoho, P.2    Chorao, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.