Associated Papers
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Xu L et al.
Neurobiology of Disease, 2020
The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?
Milanowski Ł et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Gonzalez-Alegre P
Neurobiology of Disease, 2019
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Kariminejad A et al.
Brain : a Journal of Neurology, 2017
A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese.
Long Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
KMT2B rare missense variants in generalized dystonia.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?
Cascalho A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
Demircioglu FE et al.
Elife, 2016
Clinical and genetic features of cervical dystonia in a large multicenter cohort.
LeDoux MS et al.
Neurology. Genetics, 2016
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V et al.
Parkinsonism & Related Disorders, 2015
Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 ΔGAG heterozygous knock-in mice.
Yokoi F et al.
Behavioural Brain Research, 2015
Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.
Yokoi F et al.
Plos One, 2015
Torsins: not your typical AAA+ ATPases.
Rose AE et al.
Critical Reviews in Biochemistry and Molecular Biology, 2015
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.
Hettich J et al.
Human Mutation, 2014
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.
Vulinovic F et al.
Human Mutation, 2014
Addressing variant pathogenicity: the TorsinA (TOR1A) gene as a model.
Harata NC
Human Mutation, 2014
Genetic variants in diseases of the extrapyramidal system.
Oczkowska A et al.
Current Genomics, 2014
Genetic issues in the diagnosis of dystonias.
Petrucci S et al.
Frontiers in Neurology, 2013
Pre-synaptic release deficits in a DYT1 dystonia mouse model.
Yokoi F et al.
Plos One, 2013
Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out.
Yokoi F et al.
Behavioural Brain Research, 2012
An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 ΔGAG knock-in mice.
Dang MT et al.
Behavioural Brain Research, 2012
Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction.
Atai NA et al.
International Journal of Cell Biology, 2012
Genetic and clinical features of primary torsion dystonia.
Ozelius LJ et al.
Neurobiology of Disease, 2011
EFNS guidelines on diagnosis and treatment of primary dystonias.
Albanese A et al.
European Journal of Neurology, 2011
Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice.
Yokoi F et al.
Plos One, 2011
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
Yokoi F et al.
Journal of Biochemistry, 2010
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
Calakos N et al.
Journal of Medical Genetics, 2010
Increased c-fos expression in the central nucleus of the amygdala and enhancement of cued fear memory in Dyt1 DeltaGAG knock-in mice.
Yokoi F et al.
Neuroscience Research, 2009
High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao J et al.
Bmc Medical Genetics, 2009
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
Zirn B et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008