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Volumn 23, Issue 14, 2008, Pages 1998-2003

Clinical and genetic characterization of a large Dutch family with primary focal dystonia

Author keywords

Family; Focal dystonia; Genetic; Geographical isolate

Indexed keywords

BINDING PROTEIN; DYSTONIA 1 PROTEIN; DYSTONIA 13 PROTEIN; DYSTONIA 16 PROTEIN; DYSTONIA 6 PROTEIN; DYSTONIA 7 PROTEIN; UNCLASSIFIED DRUG;

EID: 57049134065     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22206     Document Type: Article
Times cited : (6)

References (16)
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    • Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family
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    • Leube, B.1    Kessler, K.R.2    Goecke, T.3    Auburger, G.4    Benecke, R.5
  • 4
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    • Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites
    • Saunders-Pullman R, Raymond D, Senthil G, et al. Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A 2007;143:2098-2105.
    • (2007) Am J Med Genet A , vol.143 , pp. 2098-2105
    • Saunders-Pullman, R.1    Raymond, D.2    Senthil, G.3
  • 5
    • 10244255192 scopus 로고    scopus 로고
    • Exclusion of the DYT1 locus in familial torticollis
    • Bressman SB, Warner TT, Almasy L, et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996;40:681-684.
    • (1996) Ann Neurol , vol.40 , pp. 681-684
    • Bressman, S.B.1    Warner, T.T.2    Almasy, L.3
  • 6
    • 0027494629 scopus 로고
    • Adult onset familial cervical dystonia: Report of a family including monozygotic twins
    • Uitti RJ, Maraganore DM. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993;8:489-494.
    • (1993) Mov Disord , vol.8 , pp. 489-494
    • Uitti, R.J.1    Maraganore, D.M.2
  • 8
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    • Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
    • Brancati F, Defazio G, Caputo V, et al. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Mov Disord 2002;17:392-397.
    • (2002) Mov Disord , vol.17 , pp. 392-397
    • Brancati, F.1    Defazio, G.2    Caputo, V.3
  • 10
    • 33750993730 scopus 로고    scopus 로고
    • Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
    • Gambarin M, Valente EM, Liberini P, et al. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. Mov Disord 2006;21:1782-1784.
    • (2006) Mov Disord , vol.21 , pp. 1782-1784
    • Gambarin, M.1    Valente, E.M.2    Liberini, P.3
  • 11
    • 39149087968 scopus 로고    scopus 로고
    • DYT16, a novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress-response protein PRKRA
    • Camargos S, Scholz S, Simón-Sánchez J, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008;7:207-215.
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    • Camargos, S.1    Scholz, S.2    Simón-Sánchez, J.3
  • 13
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    • 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
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  • 14
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    • DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset
    • Valente EM, Bentivoglio AR, Cassetta E, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 2001;49:362-366.
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    • Valente, E.M.1    Bentivoglio, A.R.2    Cassetta, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.