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Article

Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Jul 2020

Kruizinga Matthijs D, Zuiker Rob G J A, Sali Elif, de Kam Marieke L, Doll Robert J, Groeneveld Geert Jan, Santen Gijs W E, Cohen Adam F

Abstract excerpt

There is a lack of reliable, repeatable, and non-invasive clinical endpoints when investigating treatments for intellectual disability (ID). The aim of this study is to explore a novel approach towards developing new endpoints for neurodevelopmental disorders, in this case for ARID1B-related ID. In this study, twelve subjects with ARID1B-related ID and twelve age-matched controls were included in this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32462407
DOI: 10.1007/s13311-020-00868-9
PMCID: PMC7609730

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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