메뉴 건너뛰기




Volumn 29, Issue 7, 2014, Pages 928-934

The phenotypic spectrum of DYT24 due to ANO3 mutations

Author keywords

ANO3; Cervical dystonia; Cranial dystonia; Dystonic tremor; DYT24; Laryngeal dystonia

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; ANOCTAMIN 3, HUMAN; CHLORIDE CHANNEL;

EID: 84902263798     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25802     Document Type: Article
Times cited : (92)

References (24)
  • 1
    • 84870889212 scopus 로고    scopus 로고
    • Mutations in ANO3 cause cranio-cervical dystonia: a novel molecular mechanism
    • Charlesworth G, Plagnol V, Holmstrom KM, et al. Mutations in ANO3 cause cranio-cervical dystonia: a novel molecular mechanism. Am J Hum Genet 2012;91:1040-1050.
    • (2012) Am J Hum Genet , vol.91 , pp. 1040-1050
    • Charlesworth, G.1    Plagnol, V.2    Holmstrom, K.M.3
  • 2
    • 77949372189 scopus 로고    scopus 로고
    • THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    • Houlden H, Schneider SA, Paudel R, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010;74:846-850.
    • (2010) Neurology , vol.74 , pp. 846-850
    • Houlden, H.1    Schneider, S.A.2    Paudel, R.3
  • 3
    • 0033814985 scopus 로고    scopus 로고
    • A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
    • Munchau A, Valente EM, Davis MB, et al. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 2000;15:954-959.
    • (2000) Mov Disord , vol.15 , pp. 954-959
    • Munchau, A.1    Valente, E.M.2    Davis, M.B.3
  • 4
    • 80054715409 scopus 로고    scopus 로고
    • DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene
    • Blanchard A, Ea V, Roubertie A, et al. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat 2011;32:1213-1224.
    • (2011) Hum Mutat , vol.32 , pp. 1213-1224
    • Blanchard, A.1    Ea, V.2    Roubertie, A.3
  • 5
    • 84866299000 scopus 로고    scopus 로고
    • THAP1 mutations and dystonia phenotypes: genotype phenotype correlations
    • Xiromerisiou G, Houlden H, Scarmeas N, et al. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord 2012;27:1290-1294.
    • (2012) Mov Disord , vol.27 , pp. 1290-1294
    • Xiromerisiou, G.1    Houlden, H.2    Scarmeas, N.3
  • 7
    • 79951554515 scopus 로고    scopus 로고
    • Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
    • Clot F, Grabli D, Burbaud P, et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics 2011;12:87-89.
    • (2011) Neurogenetics , vol.12 , pp. 87-89
    • Clot, F.1    Grabli, D.2    Burbaud, P.3
  • 9
    • 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 2013;45:88-92.
    • (2013) Nat Genet , vol.45 , pp. 88-92
    • Fuchs, T.1    Saunders-Pullman, R.2    Masuho, I.3
  • 11
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
    • Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997;42:670-673.
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 12
    • 61349178832 scopus 로고    scopus 로고
    • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    • Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009;41:286-288.
    • (2009) Nat Genet , vol.41 , pp. 286-288
    • Fuchs, T.1    Gavarini, S.2    Saunders-Pullman, R.3
  • 13
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
    • Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009;8:447-452.
    • (2009) Lancet Neurol , vol.8 , pp. 447-452
    • Djarmati, A.1    Schneider, S.A.2    Lohmann, K.3
  • 14
    • 73949087195 scopus 로고    scopus 로고
    • Mutation screening of the DYT6/THAP1 gene in Italy
    • Bonetti M, Barzaghi C, Brancati F, et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009;24:2424-2427.
    • (2009) Mov Disord , vol.24 , pp. 2424-2427
    • Bonetti, M.1    Barzaghi, C.2    Brancati, F.3
  • 15
    • 77958521426 scopus 로고    scopus 로고
    • DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation
    • Groen JL, Ritz K, Contarino MF, et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010;25:2420-2427.
    • (2010) Mov Disord , vol.25 , pp. 2420-2427
    • Groen, J.L.1    Ritz, K.2    Contarino, M.F.3
  • 16
    • 84856710214 scopus 로고    scopus 로고
    • THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression
    • Cheng FB, Ozelius LJ, Wan XH, et al. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol 2012;259:342-347.
    • (2012) J Neurol , vol.259 , pp. 342-347
    • Cheng, F.B.1    Ozelius, L.J.2    Wan, X.H.3
  • 18
    • 84858648229 scopus 로고    scopus 로고
    • Overview of primary monogenic dystonia
    • Spatola M, Wider C. Overview of primary monogenic dystonia. Parkinsonism Relat Disord 2012;18(suppl 1):S158-S161.
    • (2012) Parkinsonism Relat Disord , vol.18 , Issue.1 SUPPL.
    • Spatola, M.1    Wider, C.2
  • 19
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 20
    • 37549028382 scopus 로고    scopus 로고
    • Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
    • Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord 2007;22:2104-2109.
    • (2007) Mov Disord , vol.22 , pp. 2104-2109
    • Asmus, F.1    Devlin, A.2    Munz, M.3    Zimprich, A.4    Gasser, T.5    Chinnery, P.F.6
  • 21
    • 77951944550 scopus 로고    scopus 로고
    • Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity
    • Wong SH, Steiger MJ, Larner AJ, Fletcher NA. Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity. Mov Disord 2010;25:956-957.
    • (2010) Mov Disord , vol.25 , pp. 956-957
    • Wong, S.H.1    Steiger, M.J.2    Larner, A.J.3    Fletcher, N.A.4
  • 22
    • 44449104234 scopus 로고    scopus 로고
    • Cortical excitability in DYT-11 positive myoclonus dystonia
    • Roze E, Apartis E, Trocello JM. Cortical excitability in DYT-11 positive myoclonus dystonia. Mov Disord 2008;23(5):761-764.
    • (2008) Mov Disord , vol.23 , Issue.5 , pp. 761-764
    • Roze, E.1    Apartis, E.2    Trocello, J.M.3
  • 23
    • 57049180145 scopus 로고    scopus 로고
    • A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome
    • Marelli C, Canafoglia L, Zibordi F, et al. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord 2008;23:2041-2048.
    • (2008) Mov Disord , vol.23 , pp. 2041-2048
    • Marelli, C.1    Canafoglia, L.2    Zibordi, F.3
  • 24
    • 0031740582 scopus 로고    scopus 로고
    • Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee
    • Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord 1998;13(suppl 3):2-23.
    • (1998) Mov Disord , vol.13 , Issue.3 SUPPL. , pp. 2-23
    • Deuschl, G.1    Bain, P.2    Brin, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.