Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…TETRAS applicability and study design in randomized, placebo controlled clinical trial of Cav3 modulation for essential tremor patients.
Objective: We will study CX-8998, a selective Cav3 antagonist with safety data in 194 patients, in the treatment of ET. Few large controlled ET trials…Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish
Objective: To further elucidate the interaction between mitochondrial calcium homeostasis and PINK1 deficiency in a zebrafish (Danio rerio) model of Parkinson's disease (PD). Background: Loss…Gene expression analysis using the Parkinson’s disease map reveals early effects of alpha-synuclein on PD pathogenesis
Objective: The identification of early disease markers for Parkinson's disease (PD) is essential, since the disease is already in an advanced state when motor symptoms…Fahr’s syndrome in a Filipino female with hearing loss and polycystic ovaries: A case report
Objective: The objective of this case report is to document a case of Fahr's syndrome including its varied clinical manifestations. Background: Idiopathic basal ganglia calcification,…
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