January 2022 in “Function” This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.
January 2017 in “Elsevier eBooks” This chapter discusses charnolopharmacotherapeutics for various medical conditions and suggests antioxidant-loaded nanoparticles may improve treatment by enhancing central nervous system delivery and inducing charnolophagy.
148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
119 citations
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June 2005 in “Journal of Molecular and Cellular Cardiology” This article reviews the therapeutic potential of potassium channel openers for various conditions related to metabolic distress but does not report new clinical results; it emphasizes the need for further research.