Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

Reviewing primary proteasompathies associated with #CognitiveImpairment, the cellular changes induced by genomic alterations in #proteasome genes & their relevance as #biomarkers for diagnosis & treatment of #proteasompathies. @cnrs.fr @inserm.fr

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