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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

Acta neuropathologica - 1 Apr 2020

AlMuhaizea Mohammed, AlMass Rawan, AlHargan Aljouhra, AlBader Anoud, Medico Salsench Eva, Howaidi Jude, Ihinger Jacie, Karachunski Peter, Begtrup Amber, Segura Castell Monica, Bauer Peter, Bertoli-Avella Aida, Kaya Ibrahim H, AlSufayan Jumanah, AlQuait Laila, Chedrawi Aziza, Arold Stefan T, Colak Dilek, Barakat Tahsin Stefan, Kaya Namik

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PMID: 32006098
DOI: 10.1007/s00401-020-02128-8

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