意大利散发性和家族性原发性扭转性肌张力障碍的临床表现与病情进展 - Suppr

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超能文献

Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy.

作者信息

Bentivoglio Anna Rita, Elia Antonio E, Filippini Graziella, Valente Enza Maria, Fasano Alfonso, Albanese Alberto

机构信息

Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy.

出版信息

Adv Neurol. 2004;94:171-8.

PMID:14509671

Abstract

摘要

相似文献

Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy.

Adv Neurol. 2004;94:171-8.

Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12.

Adv Neurol. 2004;94:109-12.

Inherited and de novo mutations in sporadic cases of DYT1-dystonia.

Eur J Hum Genet. 2002 Mar;10(3):213-6. doi: 10.1038/sj.ejhg.5200782.

Intrafamilial phenotypic and genetic heterogeneity of dystonia.

J Neurol Sci. 2006 Dec 1;250(1-2):92-6. doi: 10.1016/j.jns.2006.07.010. Epub 2006 Oct 5.

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.

Mov Disord. 2006 Oct;21(10):1782-4. doi: 10.1002/mds.21056.

Three brothers with a very-late-onset writer's cramp.

Mov Disord. 2005 Oct;20(10):1375-7. doi: 10.1002/mds.20568.

No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.

J Med Genet. 2001 Oct;38(10):E35. doi: 10.1136/jmg.38.10.e35.

[Molecular-genetic analysis of torsion dystonia in Russia].

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Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.

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Clinical and genetic evaluation in a French population presenting with primary focal dystonia.

Mov Disord. 2005 Jul;20(7):822-5. doi: 10.1002/mds.20398.

引用本文的文献

Spread of primary dystonia in relation to initially affected region.

J Neurol. 2007 Jul;254(7):879-83. doi: 10.1007/s00415-006-0457-8. Epub 2007 Apr 2.

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Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy.

作者信息

Bentivoglio Anna Rita, Elia Antonio E, Filippini Graziella, Valente Enza Maria, Fasano Alfonso, Albanese Alberto

机构信息

Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy.

出版信息

Adv Neurol. 2004;94:171-8.

PMID:14509671

Abstract

摘要

相似文献

Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy.

Adv Neurol. 2004;94:171-8.

Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12.

Adv Neurol. 2004;94:109-12.

Inherited and de novo mutations in sporadic cases of DYT1-dystonia.

Eur J Hum Genet. 2002 Mar;10(3):213-6. doi: 10.1038/sj.ejhg.5200782.

Intrafamilial phenotypic and genetic heterogeneity of dystonia.

J Neurol Sci. 2006 Dec 1;250(1-2):92-6. doi: 10.1016/j.jns.2006.07.010. Epub 2006 Oct 5.

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.

Mov Disord. 2006 Oct;21(10):1782-4. doi: 10.1002/mds.21056.

Three brothers with a very-late-onset writer's cramp.

Mov Disord. 2005 Oct;20(10):1375-7. doi: 10.1002/mds.20568.

No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.

J Med Genet. 2001 Oct;38(10):E35. doi: 10.1136/jmg.38.10.e35.

[Molecular-genetic analysis of torsion dystonia in Russia].

Genetika. 2000 Jul;36(7):952-8.

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.

Ann Neurol. 1998 Sep;44(3):394-8. doi: 10.1002/ana.410440318.

Clinical and genetic evaluation in a French population presenting with primary focal dystonia.

Mov Disord. 2005 Jul;20(7):822-5. doi: 10.1002/mds.20398.

引用本文的文献

Spread of primary dystonia in relation to initially affected region.

J Neurol. 2007 Jul;254(7):879-83. doi: 10.1007/s00415-006-0457-8. Epub 2007 Apr 2.