A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

(2013) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Na+,K+-ATPase as a docking station: protein–protein complexes of the Na+,K+-ATPase

(2012) Linda Reinhard et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Clinical spectrum of disease associated with ATP1A3 mutations

(2012) Laurie J Ozelius   LANCET NEUROLOGY

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

(2012) Hendrik Rosewich et al.   LANCET NEUROLOGY

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

P-Type ATPases

(2011) Michael G. Palmgren et al.   Annual Review of Biophysics

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis

(2011) Ulrike Friedrich et al.   HUMAN MOLECULAR GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

(2009) P. Blanco-Arias et al.   HUMAN MOLECULAR GENETICS

Distribution of the Na,K-ATPase α Subunit in the Rat Spiral Ganglion and Organ of Corti

(2008) Will J. McLean et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY