Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

Mutations inANO3andGNALgene in thirty-three isolated dystonia families

(2015) Ling-Yan Ma et al.   MOVEMENT DISORDERS

The phenotypic spectrum of DYT24 due to ANO3 mutations

(2014) Maria Stamelou et al.   MOVEMENT DISORDERS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls

(2013) Michael Zech et al.   MOVEMENT DISORDERS

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

(2011) Damien Paulet et al.   BMC BIOINFORMATICS