Phenotypic insights intoADCY5-associated disease

ADCY5mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

(2015) Jennifer R. Friedman et al.   MOVEMENT DISORDERS

Paroxysmal Movement Disorders

(2015) Olga Waln et al.   NEUROLOGIC CLINICS

ADCY5-related dyskinesia

(2015) Dong-Hui Chen et al.   NEUROLOGY

ADCY5mutations are another cause of benign hereditary chorea

(2015) Niccolo E. Mencacci et al.   NEUROLOGY

Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia

(2014) Ying-Zhang Chen et al.   ANNALS OF NEUROLOGY

Ade novoADCY5mutation causes early-onset autosomal dominant chorea and dystonia

(2014) Raphael Carapito et al.   MOVEMENT DISORDERS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

4-Phenylbutyrate Attenuates the ER Stress Response and Cyclic AMP Accumulation in DYT1 Dystonia Cell Models

(2014) Jin A. Cho et al.   PLoS One

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

(2013) Satya R. Vemula et al.   HUMAN MOLECULAR GENETICS

Phenomenology and classification of dystonia: A consensus update

(2013) Alberto Albanese et al.   MOVEMENT DISORDERS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Autosomal Dominant Familial Dyskinesia and Facial Myokymia

(2012) Ying-Zhang Chen   ARCHIVES OF NEUROLOGY

G olf Mutation Allows Parsing the Role of cAMP-Dependent and Extracellular Signal-Regulated Kinase-Dependent Signaling in L-3,4-Dihydroxyphenylalanine-Induced Dyskinesia

(2012) C. Alcacer et al.   JOURNAL OF NEUROSCIENCE

Mutations in GNAL cause primary torsion dystonia

(2012) Tania Fuchs et al.   NATURE GENETICS

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

Myoclonus-dystonia: An update

(2009) Kiyoka Kinugawa et al.   MOVEMENT DISORDERS

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

(2009) Prateek Kumar et al.   Nature Protocols

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

(2008) E. Roze et al.   NEUROLOGY

Paroxysmal movement disorders in GLUT1 deficiency syndrome

(2008) G. Zorzi et al.   NEUROLOGY