Associated Papers
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
Picillo E et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2024
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Li H et al.
Neuromuscular Disorders : Nmd, 2020
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Krych M et al.
Journal of Cardiology, 2017
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
Díaz-Manera J et al.
Journal of Human Genetics, 2014
Conformational changes underlying pore dilation in the cytoplasmic domain of mammalian inward rectifier K+ channels.
Inanobe A et al.
Plos One, 2013
Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
Díaz-Manera J et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2011
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