TY  - GEN
AU  - AlMuhaizea,Mohammed
AU  - AlMass,Rawan
AU  - AlHargan,Aljouhra
AU  - AlBader,Anoud
AU  - Medico Salsench,Eva
AU  - Howaidi,Jude
AU  - Ihinger,Jacie
AU  - Karachunski,Peter
AU  - Begtrup,Amber
AU  - Segura Castell,Monica
AU  - Bauer,Peter
AU  - Bertoli-Avella,Aida
AU  - Kaya,Ibrahim H
AU  - AlSufayan,Jumanah
AU  - AlQuait,Laila
AU  - Chedrawi,Aziza
AU  - Arold,Stefan T
AU  - Colak,Dilek
AU  - Barakat,Tahsin Stefan
AU  - Kaya,Namik
TI  - Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
SN  - 1432-0533
PY  - 2021///0517
KW  - Brain Diseases
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Epilepsy
KW  - Female
KW  - Humans
KW  - Male
KW  - Microcephaly
KW  - Movement Disorders
KW  - Mutation
KW  - Pedigree
KW  - Vesicular Transport Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00401-020-02128-8
ER  -