Associated Papers
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A et al.
Brain : a Journal of Neurology, 2023
Characterization of the direct pathway in Dyt1 ΔGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice.
Yokoi F et al.
Behavioural Brain Research, 2021
Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Xu L et al.
Neurobiology of Disease, 2020
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Gonzalez-Alegre P
Neurobiology of Disease, 2019
Modern approaches for modelling dystonia and Huntington's disease in vitro and in vivo.
Zhunina OA et al.
International Journal of Experimental Pathology, 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
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
Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Bhagat SL et al.
Neurobiology of Disease, 2016
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
Demircioglu FE et al.
Elife, 2016
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V et al.
Parkinsonism & Related Disorders, 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
[Dystonia genes and elucidation of their roles in dystonia pathogenesis].
Kawarai T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
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
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
Calakos N et al.
Journal of Medical Genetics, 2010