메뉴 건너뛰기




Volumn 29, Issue 9, 2014, Pages 1193-1196

Screening of mutations in GNAL in sporadic dystonia patients

Author keywords

GNAL; Isolated dystonia; Mutation; Next generation sequencing

Indexed keywords

APOPTOSIS REGULATORY PROTEIN; DNA BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; NUCLEAR PROTEIN; OLFACTORY G PROTEIN SUBUNIT ALPHA OLF; THAP1 PROTEIN, HUMAN;

EID: 84906098377     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25794     Document Type: Article
Times cited : (16)

References (12)
  • 2
    • 84880772785 scopus 로고    scopus 로고
    • Phenomenology and classification of dystonia: a consensus update
    • Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873.
    • (2013) Mov Disord , vol.28 , pp. 863-873
    • Albanese, A.1    Bhatia, K.2    Bressman, S.B.3
  • 3
    • 81255135711 scopus 로고    scopus 로고
    • Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
    • Phukan J, Albanese A, Gasser T, Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol 2011;10:1074-1085.
    • (2011) Lancet Neurol , vol.10 , pp. 1074-1085
    • Phukan, J.1    Albanese, A.2    Gasser, T.3    Warner, T.4
  • 4
    • 84862825134 scopus 로고    scopus 로고
    • Mutations in CIZ1 cause adult onset primary cervical dystonia
    • Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012;71:458-469.
    • (2012) Ann Neurol , vol.71 , pp. 458-469
    • Xiao, J.1    Uitti, R.J.2    Zhao, Y.3
  • 5
    • 84870889212 scopus 로고    scopus 로고
    • Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
    • Charlesworth G, Plagnol V, Holmstrom KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012;91:1041-1050.
    • (2012) Am J Hum Genet , vol.91 , pp. 1041-1050
    • Charlesworth, G.1    Plagnol, V.2    Holmstrom, K.M.3
  • 6
    • 84879556861 scopus 로고    scopus 로고
    • Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
    • Epub ahead of print].
    • Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2012 [Epub ahead of print].
    • (2012) Ann Neurol
    • Lohmann, K.1    Wilcox, R.A.2    Winkler, S.3
  • 7
    • 84878709763 scopus 로고    scopus 로고
    • Mutations in the autoregulatory domain of betatubulin 4a cause hereditary dystonia
    • Epub ahead of print].
    • Hersheson J, Mencacci NE, Davis M, et al. Mutations in the autoregulatory domain of betatubulin 4a cause hereditary dystonia. Ann Neurol 2012 [Epub ahead of print].
    • (2012) Ann Neurol
    • Hersheson, J.1    Mencacci, N.E.2    Davis, M.3
  • 8
    • 84871945164 scopus 로고    scopus 로고
    • Mutations in GNAL cause primary torsion dystonia
    • Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2012;45:88-92.
    • (2012) Nat Genet , vol.45 , pp. 88-92
    • Fuchs, T.1    Saunders-Pullman, R.2    Masuho, I.3
  • 10
    • 0031955518 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using phred. I. Accuracy assessment
    • Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 1998;8:175-185.
    • (1998) Genome Res , vol.8 , pp. 175-185
    • Ewing, B.1    Hillier, L.2    Wendl, M.C.3    Green, P.4
  • 11
    • 0031978181 scopus 로고    scopus 로고
    • Base-calling of automated sequencer traces using phred. II. Error probabilities
    • Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998;8:186-194.
    • (1998) Genome Res , vol.8 , pp. 186-194
    • Ewing, B.1    Green, P.2
  • 12
    • 84883285366 scopus 로고    scopus 로고
    • Mutation screening of GNAL gene in patients with primary dystonia from Northeast China
    • Miao J, Wan XH, Sun Y, Feng JC, Cheng FB: Mutation screening of GNAL gene in patients with primary dystonia from Northeast China. Parkinsonism Relat Disord 2013;19:910-912.
    • (2013) Parkinsonism Relat Disord , vol.19 , pp. 910-912
    • Miao, J.1    Wan, X.H.2    Sun, Y.3    Feng, J.C.4    Cheng, F.B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.