Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Mutations in CIZ1 cause adult onset primary cervical dystonia

(2012) Jianfeng Xiao et al.   ANNALS OF NEUROLOGY

Update on dystonia

(2012) Alberto Albanese et al.   CURRENT OPINION IN NEUROLOGY

Phenotypes and genetic architecture of focal primary torsion dystonia

(2012) Justus L Groen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

(2011) Max A Tischfield et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

(2011) Daniah Trabzuni et al.   JOURNAL OF NEUROCHEMISTRY

Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis

(2011) Julie Phukan et al.   LANCET NEUROLOGY

Milestones in dystonia

(2011) Laurie J. Ozelius et al.   MOVEMENT DISORDERS

Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal

(2011) Robert A. Wilcox et al.   MOVEMENT DISORDERS

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3

(2011) Nina Norgren et al.   NEUROGENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

Functional imaging in hereditary dystonia

(2010) M. Carbon et al.   EUROPEAN JOURNAL OF NEUROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

(2010) H. Houlden et al.   NEUROLOGY

The monogenic primary dystonias

(2009) U. Muller   BRAIN

Pathophysiology of dystonia

(2009) Marie Vidailhet et al.   CURRENT OPINION IN NEUROLOGY

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

(2009) Tania Fuchs et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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

(2008) E. Chouery et al.   NEUROGENETICS