CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria

(2013) Miryam Carecchio et al.   MOVEMENT DISORDERS

Control of neuronal voltage-gated calcium ion channels from RNA to protein

(2013) Diane Lipscombe et al.   TRENDS IN NEUROSCIENCES

Cognition and psychopathology in myoclonus-dystonia

(2012) Mirjam J van Tricht et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A new familial syndrome with dystonia and lower limb action myoclonus

(2011) Justus Groen et al.   MOVEMENT DISORDERS

The crystal structure of a voltage-gated sodium channel

(2011) Jian Payandeh et al.   NATURE

The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population

(2010) Mai Yamaguchi et al.   HEREDITAS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Strong synaptic transmission impact by copy number variations in schizophrenia

(2010) J. T. Glessner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Case–case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes

(2010) David Curtis et al.   PSYCHIATRIC GENETICS

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

(2008) K Ritz et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2008) E. Roze et al.   NEUROLOGY