Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive-Reference-Cited by-同舟云学术

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Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive

Published:2018-08 Issue:4 Volume:20 Page:313-318
ISSN:1294-9361
Container-title:Epileptic Disorders
language:
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Author:

Daida Atsuro,Hamano Shin-ichiro,Ikemoto Satoru,Matsuura Ryuki,Nakashima Mitsuko,Matsumoto Naomichi,Kato Mitsuhiro

Publisher

John Libbey Eurotext

Subject

Neurology (clinical),Neurology,General Medicine

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Eg5 UFMylation promotes spindle organization during mitosis;Cell Death & Disease;2024-07-31

2. Patient derived model ofUBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies;2024-01-27

3. Eg5 UFMylation promotes spindle organization during mitosis;2024-01-18

4. The UFM1 system: Working principles, cellular functions, and pathophysiology;Molecular Cell;2024-01

5. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays;eLife;2023-12-11

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