Search Results - "Goldberg, Yigal Paul"
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BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis
Published in Journal of human genetics (01-12-2015)“…Diaphanospondylodysostosis (DSD), caused by loss of bone morphogenetic protein-binding endothelial regulator (BMPER), has been considered a lethal skeletal…”
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Pridopidine Does Not Significantly Prolong the QTc Interval at the Clinically Relevant Therapeutic Dose
Published in Neurology and therapy (01-04-2023)“…Introduction Pridopidine is a highly selective sigma-1 receptor (S1R) agonist in development for the treatment of Huntington’s disease (HD) and amyotrophic…”
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Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker
Published in Pain (Amsterdam) (01-01-2012)“…A novel small molecule inhibitor of Nav1.7 has been developed, and favorable efficacy using this therapeutic in erythromelalgia patients with Nav1.7…”
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Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker
Published in Pain (Amsterdam) (01-01-2012)“…Mutations in the SCN9A gene leading to deficiency of its protein product, Na(v)1.7, cause congenital indifference to pain (CIP). CIP is characterized by the…”
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Treatment of Na v1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker
Published in Pain (Amsterdam) (2012)“…A novel small molecule inhibitor of Na v1.7 has been developed, and favorable efficacy using this therapeutic in erythromelalgia patients with Na v1.7…”
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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Published in Clinical genetics (01-04-2007)“…Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We…”
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