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

被引：17

作者：

AlMuhaizea, Mohammed ^{[1
,2
]}

AlMass, Rawan ^{[3
]}

AlHargan, Aljouhra ^{[3
]}

AlBader, Anoud ^{[3
]}

Medico Salsench, Eva ^{[4
]}

Howaidi, Jude ^{[3
]}

Ihinger, Jacie ^{[5
]}

Karachunski, Peter ^{[6
]}

Begtrup, Amber ^{[7
]}

Segura Castell, Monica ^{[8
]}

Bauer, Peter ^{[8
]}

Bertoli-Avella, Aida ^{[8
]}

Kaya, Ibrahim H. ^{[2
]}

AlSufayan, Jumanah ^{[3
]}

AlQuait, Laila ^{[3
]}

Chedrawi, Aziza ^{[1
]}

Arold, Stefan T. ^{[9
,10
]}

Colak, Dilek ^{[11
]}

Barakat, Tahsin Stefan ^{[4
]}

Kaya, Namik ^{[3
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr KFSHRC, Dept Neurosci, Riyadh, Saudi Arabia

[2] AlFaisal Univ, Coll Med, Riyadh, Saudi Arabia

[3] KFSHRC, Dept Genet, Riyadh, Saudi Arabia

[4] Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands

[5] Univ Minnesota, Med Ctr, Minneapolis, MN 55455 USA

[6] Univ Minnesota, Dept Neurol, Minneapolis, MN 55455 USA

[7] GeneDx, Gaithersburg, MD 20877 USA

[8] CENTOGENE AG, Strande 7, D-18055 Rostock, Germany

[9] King Abdullah Univ Sci & Technol KAUST, Computat Biosci Res Ctr CBRC, Div Biol & Environm Sci & Engn BESE, Thuwal 239556900, Saudi Arabia

[10] Univ Montpellier, Ctr Biochim Struct, CNRS, INSERM, F-34090 Montpellier, France

[11] KFSHRC, Dept Biostat Epidemiol & Sci Comp, Riyadh, Saudi Arabia

来源：

ACTA NEUROPATHOLOGICA | 2020年 / 139卷 / 04期

关键词：

D O I：

10.1007/s00401-020-02128-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：791 / 794

页数：4

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