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Human genetics / DNA sequencing / Exome sequencing / Molecular biology / Dystonia / Torsion dystonia / Focal dystonia / Mutation / Human genome / Biology / Genetics / Neurological disorders


Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
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Document Date: 2013-07-11 11:44:22

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City

Kiel / Riyadh / Shenzhen / Johnson / Ingelheim / Surrey / St. Louis / Davis / Anheim / Valencia / Belfast / Clarke / Kent / San Diego / Edinburgh / /

Company

Schneider S.A. / Park S.P. / Halley Stewart Trust / Orion Pharma / GlaxoSmithKline / Pullman / Caci / Sun Health Corporation / Linde / Roher A.E. / Wellcome Trust / Affymetrix / Tissue Bank / Illumina / Collaborative Group / CBC / Suzuki / /

Continent

Europe / /

Country

Canada / United Kingdom / China / Germany / Saudi Arabia / United States / Spain / /

/

Event

Natural Disaster / /

Facility

UCL Institute of Neurology / Blood Institute / Health’s National Institute / University of Edinburgh / University of Kiel / King’s College / Hospital Universitario La Fe / 2University College / Illumina Design Studio / Sun Health Research Institute / University College London / University College London Institute of Neurology / Queen Square / Genetics Institute / University College London Hospitals / /

IndustryTerm

pharmaceutical agents / heterozygous mutation carrier / imaging / https /

MedicalCondition

Introduction Cervical dystonia / autosomaldominant cervical dystonia / myoclonic jerks / ANO3 Cause Dominant Craniocervical Dystonia / autosomal-dominant craniocervical dystonia / laryngeal dystonia / dysarthria / craniocervical dystonia / autosomal-recessive cerebellar ataxia / early-onset torsion dystonia gene / dystonic upper-limb tremor / apparently autosomal-dominant craniocervical dystonia / adult onset primary cervical dystonia / dystonia samples / autosomal-dominant cervical dystonia / primary dystonias / Idiopathic cervical dystonia / cancer / cervical dystonia / MMD3 muscular dystrophies / unrelated diseases / familial dystonia / dystonic head tremor / primary dystonia / upper-limb tremor / DYT6 primary torsion dystonia / adult-onset cranio-cervical primary torsion dystonia / mild cognitive impairment / diseases / dystonia / prediction cervical dystonia / associated upper-limb dystonic tremor / primary adult-onset cranial cervical dystonia / ulous cervical dystonia / Scott syndrome / muscular dystrophy / myoclonus / upperlimb dystonic tremor / oromandibular dystonia / benign cervical dystonia / tremor / mild truncal ataxia / neck pain / autosomal-dominant disease / tauopathies / upper-limb dystonic tremor / disease / Cervical dystonia pathophysiology / focal dystonia / familial essential tremor / jerky cervical dystonia / tremulous cervical dystonia / dystonic tremor / subtle left-sided torticollis / /

Organization

Department of Molecular Neuroscience / King’s College London / National Heart / Lung / and Blood Institute / Department of Genetics / Department of Health’s National Institute for Health Research Biomedical Research Centres / University of Edinburgh / 6King Faisal Specialist Hospital / Genetics Institute / UCL Institute of Neurology / American Society of Human Genetics / University College London / Research Centre / Medical Research Council / University College London Institute of Neurology / University of Kiel / UK Human Brain Expression Consortium / 3Sobell Department for Movement Disorders / /

Person

Gene Expr / John A. Hardy / Colin Smith / Nat / Robert Walker / Cell Physiol / Xiao / Michael Weale / Mina Ryten / Blackwood / Sabbagh / Harrison / Connor / Shiwarski / Daniah Trabzuni / Adaikalavan Ramasamy / Gandhi / /

Position

advisor / Butler / General / D.J. / Queen / /

Product

fluoxetine / potassium chloride / penicillin / /

ProgrammingLanguage

C / /

ProvinceOrState

M.B. / British Columbia / N.F. / /

PublishedMedium

The American Journal of Human Genetics / /

Region

Northern England / /

Technology

Neuroscience / genotyping / CytoSNP-12 chip / genotype / Genomics / hybridization / http / SNP / /

URL

http /

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