메뉴 건너뛰기




Volumn 29, Issue 9, 2014, Pages 1190-1193

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

Author keywords

De novo mutation; DYT25; GNAL; Isolated dystonia

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; OLFACTORY G PROTEIN SUBUNIT ALPHA OLF;

EID: 84906080438     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25876     Document Type: Article
Times cited : (14)

References (23)
  • 1
    • 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
  • 2
    • 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
  • 3
    • 84876874253 scopus 로고    scopus 로고
    • Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
    • Doi: 10.1002/ana.23829.
    • Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2012; Doi: 10.1002/ana.23829.
    • (2012) Ann Neurol
    • Lohmann, K.1    Wilcox, R.A.2    Winkler, S.3
  • 4
    • 84878408023 scopus 로고    scopus 로고
    • Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia
    • Doi: 10.1002/ana.23832.
    • Hersheson J, Mencacci NE, Davis M, et al. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann Neurol 2012; Doi: 10.1002/ana.23832.
    • (2012) Ann Neurol
    • Hersheson, J.1    Mencacci, N.E.2    Davis, M.3
  • 5
    • 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
  • 6
    • 84878508579 scopus 로고    scopus 로고
    • Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia
    • Vemula SR, Puschmann A, Xiao J, et al. Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet 2013;22:2510-2519.
    • (2013) Hum Mol Genet , vol.22 , pp. 2510-2519
    • Vemula, S.R.1    Puschmann, A.2    Xiao, J.3
  • 7
    • 84880784410 scopus 로고    scopus 로고
    • Genetics of dystonia: what's known? What's new? What's next?
    • Lohmann K, Klein C. Genetics of dystonia: what's known? What's new? What's next? Mov Disord 2013;28:899-905.
    • (2013) Mov Disord , vol.28 , pp. 899-905
    • Lohmann, K.1    Klein, C.2
  • 8
    • 84887628011 scopus 로고    scopus 로고
    • No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families
    • Doi: 10.1002/mds.25542.
    • Ma L, Chen R, Wang L, Yang Y, Wan X. No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families. Mov Disord 2013; Doi: 10.1002/mds.25542.
    • (2013) Mov Disord
    • Ma, L.1    Chen, R.2    Wang, L.3    Yang, Y.4    Wan, X.5
  • 9
    • 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
  • 10
    • 84899031959 scopus 로고    scopus 로고
    • Mutations in GNAL: a novel cause of craniocervical dystonia
    • Doi: 10.1001/jamaneurol.2013.4677.
    • Kumar KR, Lohmann K, Masuho I, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014; Doi: 10.1001/jamaneurol.2013.4677.
    • (2014) JAMA Neurol
    • Kumar, K.R.1    Lohmann, K.2    Masuho, I.3
  • 11
    • 7144256520 scopus 로고    scopus 로고
    • De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
    • Klein C, Brin MF, de Leon D, et al. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998;7:1133-1136.
    • (1998) Hum Mol Genet , vol.7 , pp. 1133-1136
    • Klein, C.1    Brin, M.F.2    de Leon, D.3
  • 12
    • 0016905990 scopus 로고
    • Definition of dystonia and classification of the dystonic states
    • Fahn S, Eldridge R. Definition of dystonia and classification of the dystonic states. Adv Neurol 1976;14:1-5.
    • (1976) Adv Neurol , vol.14 , pp. 1-5
    • Fahn, S.1    Eldridge, R.2
  • 13
    • 84876481227 scopus 로고    scopus 로고
    • Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia
    • Dobricic VS, Kresojevic ND, Svetel MV, et al. Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. J Neurol 2013;260:1037-1042.
    • (2013) J Neurol , vol.260 , pp. 1037-1042
    • Dobricic, V.S.1    Kresojevic, N.D.2    Svetel, M.V.3
  • 14
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 15
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 16
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 17
    • 70350671733 scopus 로고    scopus 로고
    • Automated inference of molecular mechanisms of disease from amino acid substitutions
    • Li B, Krishnan VG, Mort ME, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009;25:2744-2750.
    • (2009) Bioinformatics , vol.25 , pp. 2744-2750
    • Li, B.1    Krishnan, V.G.2    Mort, M.E.3
  • 18
    • 67749137351 scopus 로고    scopus 로고
    • Functional annotations improve the predictive score of human disease-related mutations in proteins
    • Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 2009;30:1237-1244.
    • (2009) Hum Mutat , vol.30 , pp. 1237-1244
    • Calabrese, R.1    Capriotti, E.2    Fariselli, P.3    Martelli, P.L.4    Casadio, R.5
  • 20
    • 84855252084 scopus 로고    scopus 로고
    • Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID:139). Available from:
    • Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID:139). Available from: http://www.ncbi.nlm.nih.gov/SNP/.
    • Database of Single Nucleotide Polymorphisms (dbSNP)
  • 21
    • 84870523554 scopus 로고    scopus 로고
    • Exome Variant Server, Seattle, WA. Available from: [Accessed September 2013].
    • Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. Available from: http://evs.gs.washington.edu/EVS/) [Accessed September 2013].
    • NHLBI GO Exome Sequencing Project (ESP)
  • 22
    • 0026026818 scopus 로고
    • The GTPase superfamily: conserved structure and molecular mechanism
    • Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature 1991;349:117-127.
    • (1991) Nature , vol.349 , pp. 117-127
    • Bourne, H.R.1    Sanders, D.A.2    McCormick, F.3
  • 23
    • 84975795680 scopus 로고    scopus 로고
    • The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes
    • McVean
    • McVean, The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012;491:56-65.
    • (2012) Nature , vol.491 , pp. 56-65


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.