A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

Migraine is a risk factor for sudden sensorineural hearing loss: A nationwide population-based study

(2012) Chia-Huei Chu et al.   CEPHALALGIA

Genetics of hearing loss: where are we standing now?

(2012) Hossein Mahboubi et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Vestibular migraine: Long-term follow-up of clinical symptoms and vestibulo-cochlear findings

(2012) A. Radtke et al.   NEUROLOGY

A Case of Familial Hemiplegic Migraine Associated With a Novel ATP1A2 Gene Mutation

(2012) Angela De Cunto et al.   PEDIATRIC NEUROLOGY

Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology

(2010) Jeong-In Baek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Prolonged Sporadic Hemiplegic Migraine Associated With a Novel De Novo Missense ATP1A2 Gene Mutation

(2010) Sara De Sanctis et al.   HEADACHE

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

Functional Roles of High-Affinity Glutamate Transporters in Cochlear Afferent Synaptic Transmission in the Mouse

(2010) Zhiqiang Chen et al.   JOURNAL OF NEUROPHYSIOLOGY

Structural insights into the high affinity binding of cardiotonic steroids to the Na+,K+-ATPase

(2010) Laure Yatime et al.   JOURNAL OF STRUCTURAL BIOLOGY

Different functional consequences of two missense mutations in theGJB2gene associated with non-syndromic hearing loss

(2009) Soo-Young Choi et al.   HUMAN MUTATION

Glutamate Transporter Coupling to Na,K-ATPase

(2009) E. M. Rose et al.   JOURNAL OF NEUROSCIENCE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Familial Clustering of Migraine, Episodic Vertigo, and Ménière's Disease

(2009) Yoon-Hee Cha et al.   OTOLOGY & NEUROTOLOGY

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

Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8

(2009) Elmar Krieger et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Is migraine a genetic illness? The various forms of migraine share a common genetic cause

(2008) Michael Bjørn Russell   NEUROLOGICAL SCIENCES

The non-gastric H,K-ATPase as a tool to study the ouabain-binding site in Na,K-ATPase

(2008) Jan Joep H. H. M. De Pont et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY