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

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

Saved in:
Bibliographic Details
Published in:Acta neuropathologica Vol. 139; no. 4; pp. 791 - 794
Main Authors: 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
Format: Journal Article
Language:English
Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-04-2020
Springer
Springer Nature B.V
Subjects:
Brain Diseases - genetics
Brain Diseases - pathology
Child
Child, Preschool
Correspondence
Encephalopathy
Epilepsy
Epilepsy - genetics
Epilepsy - pathology
Female
Genetic aspects
Humans
Male
Medical colleges
Medicine
Medicine & Public Health
Microcephaly - genetics
Microcephaly - pathology
Microencephaly
Movement disorders
Movement Disorders - genetics
Movement Disorders - pathology
Mutation
Neurosciences
Pathology
Pedigree
Vesicular Transport Proteins - genetics
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0001-6322
1432-0533
DOI:10.1007/s00401-020-02128-8