Associated Papers
DYT-TOR1A dystonia: an update on pathogenesis and treatment.
Fan Y et al.
Frontiers in Neuroscience, 2023
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
Extended Study of NUS1 Gene Variants in Parkinson's Disease.
Yuan L et al.
Frontiers in Neurology, 2020
33193043 (PubMed )
Supplement: Table_1.doc
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Gonzalez-Alegre P
Neurobiology of Disease, 2019
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
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
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
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