메뉴 건너뛰기
Neurogenetics
Volumn 9, Issue 4, 2008, Pages 295-299
Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2)
Author keywords

AOA2; Ataxia; Duplication; Senataxin
Indexed keywords

ADULT; APRAXIA; ARTICLE; ATAXIA; ATAXIA WITH OCULAR APRAXIA TYPE 2; CASE REPORT; DNA SEQUENCE; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; HOMOLOGOUS RECOMBINATION; HUMAN; MALE; MORPHOLOGICAL TRAIT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SENATAXIN GENE;
EID: 52649152361     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0139-z     Document Type: Article
Times cited : (22)
References (12)
  • 1
    • 10744230604 scopus 로고    scopus 로고
    • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
    • MC Moreira S Klur M Watanabe AH Nemeth I Le Ber JC Moniz 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 Nat Genet 36 225 227
    • (2004) Nat Genet , vol.36 , pp. 225-227
    • Moreira, M.C.1    Klur, S.2    Watanabe, M.3    Nemeth, A.H.4    Le Ber, I.5    Moniz, J.C.6
  • 2
    • 11144355513 scopus 로고    scopus 로고
    • Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients
    • I Le Ber N Bouslam S Rivaud-Pechoux J Guimaraes A Benomar C Chamayou 2004 Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients Brain 127 759 767
    • (2004) Brain , vol.127 , pp. 759-767
    • Le Ber, I.1    Bouslam, N.2    Rivaud-Pechoux, S.3    Guimaraes, J.4    Benomar, A.5    Chamayou, C.6
  • 3
    • 5744246254 scopus 로고    scopus 로고
    • MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia telangiectasia-like disorder
    • D Delia M Piane G Buscemi C Savio S Palmeri P Lulli 2004 MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia telangiectasia-like disorder Hum Mol Genet 13 2155 2163
    • (2004) Hum Mol Genet , vol.13 , pp. 2155-2163
    • Delia, D.1    Piane, M.2    Buscemi, G.3    Savio, C.4    Palmeri, S.5    Lulli, P.6
  • 4
    • 12744273401 scopus 로고    scopus 로고
    • Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
    • M Fernet M Gribaa MA Salih MZ Seidahmed J Hall M Koenig 2005 Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder Hum Mol Genet 14 307 318
    • (2005) Hum Mol Genet , vol.14 , pp. 307-318
    • Fernet, M.1    Gribaa, M.2    Salih, M.A.3    Seidahmed, M.Z.4    Hall, J.5    Koenig, M.6
  • 6
    • 33746164726 scopus 로고    scopus 로고
    • Spinocerebellar ataxia with ocular motor apraxia and DNA repair
    • O Onodera 2006 Spinocerebellar ataxia with ocular motor apraxia and DNA repair Neuropathology 26 361 367
    • (2006) Neuropathology , vol.26 , pp. 361-367
    • Onodera, O.1
  • 7
    • 0026612460 scopus 로고
    • Ataxia telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals
    • CG Woods AM Taylor 1992 Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals Q J Med 82 169 179
    • (1992) Q J Med , vol.82 , pp. 169-179
    • Woods, C.G.1    Taylor, A.M.2
  • 8
    • 2442658908 scopus 로고    scopus 로고
    • DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
    • YZ Chen CL Bennett HM Huynh IP Blair I Puls J Irobi 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am J Hum Genet 74 1128 1135
    • (2004) Am J Hum Genet , vol.74 , pp. 1128-1135
    • Chen, Y.Z.1    Bennett, C.L.2    Huynh, H.M.3    Blair, I.P.4    Puls, I.5    Irobi, J.6
  • 9
    • 33845715490 scopus 로고    scopus 로고
    • Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2
    • BL Fogel S Perlman 2006 Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2 Neurology 67 2083 2084
    • (2006) Neurology , vol.67 , pp. 2083-2084
    • Fogel, B.L.1    Perlman, S.2
  • 10
    • 42549106475 scopus 로고    scopus 로고
    • "pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2)
    • L Schöls L Arning R Schüle JT Epplen D Timmann 2008 "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2) J Neurol 255 495 501
    • (2008) J Neurol , vol.255 , pp. 495-501
    • Schöls, L.1    Arning, L.2    Schüle, R.3    Epplen, J.T.4    Timmann, D.5

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.