LAUSR

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

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0 Published in 2020 at "Annals of Neurology"

DOI: 10.1002/ana.25973

Abstract: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. read more here.

Keywords: eif2ak2 missense; early onset; generalized dystonia; onset generalized ... See more keywords

A Recurrent EIF2AK2 Missense Variant Causes Autosomal‐Dominant Isolated Dystonia

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0 Published in 2021 at "Annals of Neurology"

DOI: 10.1002/ana.26081

Abstract: A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia Thomas Musacchio, MD, Michael Zech, MD , Martin M. Reich, MD, Juliane Winkelmann, MD,2,3,4,5‡ and Jens Volkmann, MD1‡ We read with interest the article by Kuipers… read more here.

Keywords: 388g gly130arg; recurrent eif2ak2; eif2ak2 missense; missense variant ... See more keywords