Mutations in CIZ1 cause adult onset primary cervical dystonia

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

(2011) Jianfeng Xiao et al.   MOVEMENT DISORDERS

The functional neuroanatomy of dystonia

(2011) Vladimir K. Neychev et al.   NEUROBIOLOGY OF DISEASE

An African–American family with dystonia

(2011) Andreas Puschmann et al.   PARKINSONISM & RELATED DISORDERS

Altered Dendritic Morphology of Purkinje cells in Dyt1 ΔGAG Knock-In and Purkinje Cell-Specific Dyt1 Conditional Knockout Mice

(2011) Lin Zhang et al.   PLoS One

Differential detection of alternatively spliced variants of Ciz1 in normal and cancer cells using a custom exon-junction microarray

(2010) Faisal A Rahman et al.   BMC CANCER

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Molecular pathways in dystonia

(2010) D. Cristopher Bragg et al.   NEUROBIOLOGY OF DISEASE

Novel THAP1 sequence variants in primary dystonia

(2010) J. Xiao et al.   NEUROLOGY

Structural determinants of specific DNA-recognition by the THAP zinc finger

(2010) Sébastien Campagne et al.   NUCLEIC ACIDS RESEARCH

NLStradamus: a simple Hidden Markov Model for nuclear localization signal prediction

(2009) Alex N Nguyen Ba et al.   BMC BIOINFORMATICS

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

(2009) M. Anheim et al.   BRAIN

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

(2009) Tania Fuchs et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Neural cell cycle dysregulation and central nervous system diseases

(2009) Wei Wang et al.   PROGRESS IN NEUROBIOLOGY

Altered splicing in exon 8 of the DNA replication factor CIZ1 affects subnuclear distribution and is associated with Alzheimer's disease

(2008) Christina Mackeprang Dahmcke et al.   MOLECULAR AND CELLULAR NEUROSCIENCE