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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

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E.WitteM.HondiusD.RozemullerA

Some mutations can lead to various neurological conditions, including neonatal mitochondrial encephalopathy, sensorineural hearing loss, axonal neuropathy, and, less commonly, motor neuron disease (9)

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