De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

SVA: software for annotating and visualizing sequenced human genomes

(2011) Dongliang Ge et al.   BIOINFORMATICS

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

(2010) Eleni Panagiotakaki et al.   BRAIN

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Infrastructure for the life sciences: design and implementation of the UniProt website

(2009) Eric Jain et al.   BMC BIOINFORMATICS

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

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

Rapid-onset dystonia-parkinsonism: case report

(2009) Marina Svetel et al.   JOURNAL OF NEUROLOGY

RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION

(2009) I. A. Anselm et al.   NEUROLOGY

Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome

(2009) M. T. Sweney et al.   PEDIATRICS

Mutation I810N in the  3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

(2009) S. J. Clapcote et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Crystal structure of the sodium-potassium pump (Na+,K+-ATPase) with bound potassium and ouabain

(2009) H. Ogawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NOVEL ATP1A3 MUTATION IN A SPORADIC RDP PATIENT WITH MINIMAL BENEFIT FROM DEEP BRAIN STIMULATION

(2008) C. Kamm et al.   NEUROLOGY