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List of works by Ben Distel

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

scientific article published on 05 September 2020

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

scientific article published on 4 January 2018

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

scientific article published on 24 June 2019

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

scientific article published on 01 March 2021

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

scientific article published on 13 April 2015

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