학술논문

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Correspondence
Document Type
Academic Journal
Source
Acta Neuropathologica. April 2020, Vol. 139 Issue 4, p791, 4 p.
Subject
Genetic aspects
Movement disorders -- Genetic aspects
Neurosciences
Epilepsy -- Genetic aspects
Medical schools
Medical colleges
Language
English
ISSN
0001-6322
Abstract
Author(s): Mohammed AlMuhaizea [sup.1] [sup.2], Rawan AlMass [sup.3], Aljouhra AlHargan [sup.3], Anoud AlBader [sup.3], Eva Medico Salsench [sup.4], Jude Howaidi [sup.3], Jacie Ihinger [sup.5], Peter Karachunski [sup.6], Amber Begtrup [sup.7], [...]