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Page 1
Genetics of dystonia.
Fuchs T, Ozelius LJ. Fuchs T, et al. Semin Neurol. 2011 Nov;31(5):441-8. doi: 10.1055/s-0031-1299783. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266882 Review.
Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dy
Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inh
Brain Stimulation for Torsion Dystonia.
Fox MD, Alterman RL. Fox MD, et al. JAMA Neurol. 2015 Jun;72(6):713-9. doi: 10.1001/jamaneurol.2015.51. JAMA Neurol. 2015. PMID: 25894231 Free PMC article. Review.
FINDINGS: Strong (level B) evidence supports the use of DBS for the treatment of primary generalized or segmental dystonia, especially when due to mutation in the DYT1 gene, as well as for patients with cervical dystonia. Large effect sizes have also been reported f …
FINDINGS: Strong (level B) evidence supports the use of DBS for the treatment of primary generalized or segmental dystonia, especiall …
Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.
Taiwo FT, Adebayo PB. Taiwo FT, et al. Brain Behav. 2023 Jun;13(6):e3023. doi: 10.1002/brb3.3023. Epub 2023 May 11. Brain Behav. 2023. PMID: 37165749 Free PMC article. Review.
BACKGROUND: Primary generalized dystonia due to the DYT1 gene is an autosomal dominant disorder caused by a GAG deletion on chromosome 9q34. It is a well-defined, genetically proven, isolated dystonia syndrome. However, its pathophysiology remains unclear. OBJECTIVE …
BACKGROUND: Primary generalized dystonia due to the DYT1 gene is an autosomal dominant disorder caused by a GAG deletion on chromosom …
Torsins: not your typical AAA+ ATPases.
Rose AE, Brown RS, Schlieker C. Rose AE, et al. Crit Rev Biochem Mol Biol. 2015;50(6):532-49. doi: 10.3109/10409238.2015.1091804. Epub 2015 Oct 13. Crit Rev Biochem Mol Biol. 2015. PMID: 26592310 Free PMC article. Review.
Studying Torsins has significant medical relevance since mutations in Torsins or Torsin-associated proteins result in a variety of congenital human disorders, the most frequent of which is early-onset torsion (DYT1) dystonia, a severe movement disorder. A better und …
Studying Torsins has significant medical relevance since mutations in Torsins or Torsin-associated proteins result in a variety of congenita …
Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5.
Segawa M, Nomura Y. Segawa M, et al. Semin Neurol. 2014 Jul;34(3):306-11. doi: 10.1055/s-0034-1386768. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192508 Review.
Ages of onset of postural-type dystonia are around 6 years, and 8 to 10 years in cases of action-type dystonia. ...Clinically, there are two types: postural and action. Postural-type dystonia occurs around 6 years of age, with postural dyston
Ages of onset of postural-type dystonia are around 6 years, and 8 to 10 years in cases of action-type dystonia. ...Clin …
[Genetics of dystonia].
Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P. Klein C, et al. Nervenarzt. 2000 Jun;71(6):431-41. doi: 10.1007/s001150050604. Nervenarzt. 2000. PMID: 10919137 Review. German.
To date, at least 12 types of primary dystonia can be distinguished on a genetic basis. A 3-bp deletion in the DYT1 gene causes early onset, generalized torsion dystonia (TD), and mutations in the GTP cyclohydrolase I and the tyrosine hydroxylase genes result …
To date, at least 12 types of primary dystonia can be distinguished on a genetic basis. A 3-bp deletion in the DYT1 gene causes early …
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, Martin M, Coquart C, Claustres M, Béroud C, Collod-Béroud G. Blanchard A, et al. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21793105 Free article. Review.
By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, early-onset, nonfocal, primary dystonia
By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain …
TorsinA and dystonia: from nuclear envelope to synapse.
Granata A, Schiavo G, Warner TT. Granata A, et al. J Neurochem. 2009 Jun;109(6):1596-609. doi: 10.1111/j.1471-4159.2009.06095.x. Epub 2009 Apr 8. J Neurochem. 2009. PMID: 19457118 Free article. Review.
A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by involuntary sustained muscle contractions and abnormal posturing of the limbs. ...
A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia
Dystonia.
Korczyn AD, Inzelberg R. Korczyn AD, et al. Curr Opin Neurol Neurosurg. 1993 Jun;6(3):350-7. Curr Opin Neurol Neurosurg. 1993. PMID: 8507905 Review.
Dystonia has moved from the status of a rare disease or an uncommon clinical manifestation to the center stage of research in movement disorders. ...
Dystonia has moved from the status of a rare disease or an uncommon clinical manifestation to the center stage of research in movemen
Dystonia: phenotypes and genotypes.
Bressman SB. Bressman SB. Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):849-56. Rev Neurol (Paris). 2003. PMID: 14628853 Review.
Despite clinical and genetic complexity of dystonia, knowledge of primary torsion dystonia and dystonia-plus syndromes was recently expanded. ...Dopa-responsive-dystonia is a heterogeneous group with several causes (GCH1 mutations, compound muta …
Despite clinical and genetic complexity of dystonia, knowledge of primary torsion dystonia and dystonia-plus syn …
21 results