Associated Papers
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
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V et al.
Parkinsonism & Related Disorders, 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
The genetics of dystonia: new twists in an old tale.
Charlesworth G et al.
Brain : a Journal of Neurology, 2013
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Mutations in DYT1: extension of the phenotypic and mutational spectrum.
Kabakci K et al.
Neurology, 2004
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