PHENOTYPICAL AND MYOPATHOLOGICAL CONSEQUENCES OF COMPOUND HETEROZYGOUS MISSENSE AND NONSENSE VARIANTS IN SLC18A3

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine (ACh) have recently been described.SLC18A3 encodes the vesicular ACh transporter (VAChT), modulating the active transport of ACh at the neuromuscular junction, and homozygous loss of VAC

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Wakeup Call: Reviewing the Effects of Sleep on Decision-Making in Athletes and Implications for Sports Officials

Although sports officials are essential in the adjudication of rules during competitions, research into officiating populations is preliminary.This review explores existing research on the effects of sleep loss on decision-making in athlete populations, to gain relevant Snow Cone Maker insight into sports officials and the growing decision-making d

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Cluster PEACE observations of electrons of spacecraft origin

The two PEACE (Plasma Electron And Current Experiment) sensors on board each Cluster spacecraft sample the electron velocity distribution across the full 4<pi> solid angle and the energy range 0.7 eV to 26 keV with a time resolution of 4 s.We present high energy and angular resolution 3D observations of electrons of spacecraft origin in the v

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