Associated Papers
Genetic screening in patients of Meige syndrome and blepharospasm.
Teng X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG et al.
Acta Neurologica Scandinavica, 2017
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.
Wang L et al.
Clinical Neurology and Neurosurgery, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia.
Groen JL et al.
Parkinsonism & Related Disorders, 2014
Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Groen JL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
Clarimon J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients.
Naiya T et al.
Acta Neurologica Scandinavica, 2006
Clinical and molecular genetic evaluation of patients with primary dystonia.
Shang H et al.
European Journal of Neurology, 2005
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