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FUS positive juvenile ALS-diagnostic and therapeutic insights from a 16-year-old female patient.

作者信息

Philip Anu, Sureshbabu Sachin, Nikitha K, Pachat Divya, Janardhanan Sujith, Narayanan Rekha, Peter Sudhir, Chindrippu Sobhana, Joseph Merisin, Mohanlal Smilu

机构信息

Department of General Medicine, Aster MIMS Hospital, Kozhikode, Kerala, India.

Department of Neurology, Aster MIMS Hospital, Kozhikode, 673016, Kerala, India.

出版信息

Acta Neurol Belg. 2023 Apr;123(2):637-639. doi: 10.1007/s13760-021-01825-9. Epub 2022 Mar 15.

DOI:10.1007/s13760-021-01825-9
PMID:35290622
Abstract
摘要

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2
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本文引用的文献

1
Edaravone for amyotrophic lateral sclerosis: barriers to access and lifeboat ethics.依达拉奉治疗肌萎缩侧索硬化症：获取药物的障碍与救生艇伦理
CMAJ. 2020 Mar 23;192(12):E319-E320. doi: 10.1503/cmaj.191236.
2
Epidemiology of amyotrophic lateral sclerosis: an update of recent literature.肌萎缩侧索硬化症的流行病学：最新文献的更新。
Curr Opin Neurol. 2019 Oct;32(5):771-776. doi: 10.1097/WCO.0000000000000730.
3
Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome.基因确诊的布朗-维亚莱托-范莱尔综合征的核黄素治疗
J Pediatr Neurosci. 2018 Oct-Dec;13(4):471-473. doi: 10.4103/JPN.JPN_131_17.
4
The epidemiology of amyotrophic lateral sclerosis.肌萎缩侧索硬化症的流行病学
Handb Clin Neurol. 2016;138:225-38. doi: 10.1016/B978-0-12-802973-2.00013-6.
5
Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations.具有嗜碱性包涵体的青少年型肌萎缩侧索硬化症是一种 FUS 蛋白病，伴有 FUS 突变。
Neurology. 2010 Aug 17;75(7):611-8. doi: 10.1212/WNL.0b013e3181ed9cde. Epub 2010 Jul 28.