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;
APOPTOSIS REGULATORY PROTEIN;
DNA BINDING PROTEIN;
NUCLEAR PROTEIN;
THAP1 PROTEIN, HUMAN;
AGE OF ONSET;
APOPTOSIS REGULATORY PROTEINS;
DNA-BINDING PROTEINS;
DYSTONIC DISORDERS;
HUMANS;
MUTATION, MISSENSE;
NUCLEAR PROTEINS;
1
67449149588
Genetics and treatment of dys-tonia
Schwarz CS, Bressman SB. Genetics and treatment of dys-tonia. Neurol Clin 2009;27:697-718.
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Schwarz, C.S.1
Bressman, S.B.2
2
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The monogenic primary dystonias
Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
(2009)
Brain
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Muller, U.1
3
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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
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Ozelius, L.1
Hewett, J.2
Page, C.3
4
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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
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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
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Almasy, L.1
Bressman, S.B.2
Raymond, D.3
6
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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.
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Saunders-Pullman, R.1
Raymond, D.2
Senthil, G.3
7
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Mutations in THAP1 (DYT6) in early-onset dystonia: A genetic screening study
Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009;8:441-446.
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Lancet Neurol
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Bressman, S.B.1
Raymond, D.2
Fuchs, T.3
Heiman, G.A.4
Ozelius, L.J.5
Saunders-Pullman, R.6
8
64749086402
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
74949103804
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
Xiao, J.1
Zhao, Y.2
Bastian, R.W.3