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NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model

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Neuronal intranuclear inclusion disease (NIID) patients frequently exhibit ocular abnormalities, yet the pathogenic mechanisms remain unclear. Using a transgenic mouse model ubiquitously expressing NOTCH2NLC with 98GGC repeats, we revealed that polyglycine agg... ...