Related references
Note: Only part of the references are listed.Mutations in CIZ1 cause adult onset primary cervical dystonia
Jianfeng Xiao et al.
ANNALS OF NEUROLOGY (2012)
Update on dystonia
Alberto Albanese et al.
CURRENT OPINION IN NEUROLOGY (2012)
Phenotypes and genetic architecture of focal primary torsion dystonia
Justus L. Groen et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
Max A. Tischfield et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
Daniah Trabzuni et al.
JOURNAL OF NEUROCHEMISTRY (2011)
Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
Julie Phukan et al.
LANCET NEUROLOGY (2011)
Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
Robert A. Wilcox et al.
MOVEMENT DISORDERS (2011)
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
Nina Norgren et al.
NEUROGENETICS (2011)
Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
Tom Walsh et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance
Max A. Tischfield et al.
CELL (2010)
Functional imaging in hereditary dystonia
M. Carbon et al.
EUROPEAN JOURNAL OF NEUROLOGY (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
H. Houlden et al.
NEUROLOGY (2010)
Pathophysiology of dystonia
Marie Vidailhet et al.
CURRENT OPINION IN NEUROLOGY (2009)
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Tania Fuchs et al.
NATURE GENETICS (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12
E. Chouery et al.
NEUROGENETICS (2008)
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
JW Hewett et al.
NEUROBIOLOGY OF DISEASE (2006)
Mega2: data-handling for facilitating genetic linkage and association analyses
N Mukhopadhyay et al.
BIOINFORMATICS (2005)
ALOHOMORA:: a tool for linkage analysis using 10K SNP array data
F Rüschendorf et al.
BIOINFORMATICS (2005)
Autosomal recessive, DYT2-like primary torsion dystonia - A new family
NL Khan et al.
NEUROLOGY (2003)
Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees
E Sobel et al.
HUMAN HEREDITY (2001)
Share Paper
