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Volumn 74, Issue 3, 2010, Pages 192-193

Editorial: THAP1: Role in focal dystonia?

Author keywords

[No Author keywords available]

Indexed keywords

EDITORIAL; FOCAL DYSTONIA; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; THAP1 GENE; DYSTONIC DISORDER; GENETICS; ONSET AGE; PATHOPHYSIOLOGY; PHYSIOLOGY;

EID: 74949097181     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181cbf069     Document Type: Editorial
Times cited : (3)

References (9)
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    • Schwarz, C.S.1    Bressman, S.B.2
  • 2
    • 67749110057 scopus 로고    scopus 로고
    • The monogenic primary dystonias
    • Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
    • (2009) Brain , vol.132 , pp. 2005-2025
    • Muller, U.1
  • 3
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius L, Hewett J, Page C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-46.
    • (1997) Nat Genet , vol.17 , pp. 40-46
    • Ozelius, L.1    Hewett, J.2    Page, C.3
  • 4
    • 61349178832 scopus 로고    scopus 로고
    • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    • Fuchs T, Gavarini G, 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, G.2    Saunders-Pullman, R.3
  • 5
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Menno-nite families
    • Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Menno-nite 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
  • 6
    • 38449113934 scopus 로고    scopus 로고
    • 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
  • 8
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalized dystonia with prominent spasmodic dysphonia: A genetic screening study
    • Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalized 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
  • 9
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    • Novel THAP1 sequence variants in primary dystonia
    • Xiao J, Zhao Y, Bastian RW, et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010;74:229-238.
    • Neurology , vol.2010 , Issue.74 , pp. 229-238
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.