相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings
Adrian L. Oblak et al.
ACTA NEUROPATHOLOGICA (2014)
Cognitive Impairment in Rapid-Onset Dystonia-Parkinsonism
Jared F. Cook et al.
MOVEMENT DISORDERS (2014)
Genotype-phenotype correlations in alternating hemiplegia of childhood
Masayuki Sasaki et al.
NEUROLOGY (2014)
The expanding clinical and genetic spectrum of ATP1A3-related disorders
Hendrik Rosewich et al.
NEUROLOGY (2014)
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Michelle K. Demos et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients
Xiaoling Yang et al.
PLOS ONE (2014)
A pathophysiological link between dystonia, striatal interneurons and neuropeptide Y
Paolo Calabresi et al.
BRAIN (2013)
A Specific and Essential Role for Na,K-ATPase α3 in Neurons Co-expressing α1 and α3
Guillaume Azarias et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice
Keiko Ikeda et al.
JOURNAL OF PHYSIOLOGY-LONDON (2013)
The Multiple Faces of the ATP1A3-Related Dystonic Movement Disorder
Anne Roubergue et al.
MOVEMENT DISORDERS (2013)
Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients
Atsushi Ishii et al.
PLOS ONE (2013)
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia
Allison Brashear et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
Clinical spectrum of disease associated with ATP1A3 mutations
Laurie J. Ozelius
LANCET NEUROLOGY (2012)
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
Hendrik Rosewich et al.
LANCET NEUROLOGY (2012)
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Erin L. Heinzen et al.
NATURE GENETICS (2012)
Psychiatric disorders in rapid-onset dystonia-parkinsonism
Allison Brashear et al.
NEUROLOGY (2012)
Distribution of Na/K-ATPase Alpha 3 Isoform, a Sodium-Potassium P-Type Pump Associated With Rapid-Onset of Dystonia Parkinsonism (RDP) in the Adult Mouse Brain
Pernille Bottger et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2011)
Selective Inhibition of Striatal Fast-Spiking Interneurons Causes Dyskinesias
Aryn H. Gittis et al.
JOURNAL OF NEUROSCIENCE (2011)
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults
Eleni Panagiotakaki et al.
BRAIN (2010)
Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood
Yoshiaki Saito et al.
EPILEPSY RESEARCH (2010)
Rapid-onset dystonia-parkinsonism: case report
Marina Svetel et al.
JOURNAL OF NEUROLOGY (2010)
Differential effects of Na plus -K plus ATPase blockade on cortical layer V neurons
Trent R. Anderson et al.
JOURNAL OF PHYSIOLOGY-LONDON (2010)
Crystal structure of the sodium-potassium pump at 2.4 Å resolution
Takehiro Shinoda et al.
NATURE (2009)
TEMPORAL AND TOPOGRAPHIC ALTERATIONS IN EXPRESSION OF THE α3 ISOFORM OF Na+,K+-ATPase IN THE RAT FREEZE LESION MODEL OF MICROGYRIA AND EPILEPTOGENESIS
Y. Chu et al.
NEUROSCIENCE (2009)
Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome
Matthew T. Sweney et al.
PEDIATRICS (2009)
Mutation I810N in the α3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS
Steven J. Clapcote et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Differential expression of Na+/K+-ATPase α-subunits in mouse hippocampal interneurones and pyramidal cells
Kathryn S. Richards et al.
JOURNAL OF PHYSIOLOGY-LONDON (2007)
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATPIA3 gene
Allison Brashear et al.
BRAIN (2007)
Na,K-ATPase subunit heterogeneity as a mechanism for tissue-specific ion regulation
G Blanco
SEMINARS IN NEPHROLOGY (2005)
Neuronal function and ALPHA3 isoform of the Na/K-ATPase
M Dobretsov et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2005)
Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
PD Aguiar et al.
NEURON (2004)
Alternating hemiplegia of childhood: Clinical manifestations and long-term outcome
MA Mikati et al.
PEDIATRIC NEUROLOGY (2000)