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Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia

Zhan F, Zhang C, Wang S, Zhu Z, Chen G, Zhao M, Cao L

Background and Purpose Hyperekplexia (HPX), a rare neurogenetic disorder, is classically characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli and followed by a shortly general stiffness....
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Urinary Hypoxia-Inducible Factor-1alpha Levels Are Associated with Histologic Chronicity Changes and Renal Function in Patients with Lupus Nephritis

Ma C, Wei J, Zhan F, Wang R, Fu K, Wan X, Li Z

PURPOSE: Tubulointerstitial hypoxia in the kidney is considered a hallmark of injury and a mediator of the progression of tubulointerstitial fibrosis. Hypoxia-inducible factor-1alpha (HIF-1alpha), a master transcription factor in cellular...
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