The monogenic primary dystonias

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

(2009) Susan B Bressman et al.   LANCET NEUROLOGY

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

(2009) Ana Djarmati et al.   LANCET NEUROLOGY

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS

Myoclonus-Dystonia Due to Maternal Uniparental Disomy

(2008) Émilie Guettard et al.   ARCHIVES OF NEUROLOGY

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

(2008) F. C. Nery et al.   JOURNAL OF CELL SCIENCE

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

(2008) B Zirn et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

(2008) Sarah Camargos et al.   LANCET NEUROLOGY

The pathophysiological basis of dystonias

(2008) Xandra O. Breakefield et al.   NATURE REVIEWS NEUROSCIENCE

Frontotemporal and Striatal SPECT Abnormalities in Myoclonus-Dystonia: Phenotypic and Pathogenetic Considerations

(2008) Spiridon Papapetropoulos et al.   Neurodegenerative Diseases

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

(2008) E. Chouery et al.   NEUROGENETICS

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

(2008) E. Roze et al.   NEUROLOGY

SUSCEPTIBILITY TO DYT1 DYSTONIA IN EUROPEAN PATIENTS IS MODIFIED BY THE D216H POLYMORPHISM

(2008) C. Kamm et al.   NEUROLOGY

Neuropathology of primary adult-onset dystonia

(2008) J. L. Holton et al.   NEUROLOGY

Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia

(2008) K. Sato et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Frequency of GCH1 deletions in Dopa-responsive dystonia

(2007) B Zirn et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

(2007) Nardo Nardocci et al.   MOVEMENT DISORDERS