A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis
Author:
Affiliation:
1. Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1, Janshe East Road, Zhengzhou, Henan Province, 450000, China
Funder
Science and Technology Development of Henan Province of China
Publisher
Informa UK Limited
Subject
Clinical Neurology,Neurology
Link
https://www.tandfonline.com/doi/pdf/10.1080/21678421.2020.1775256
Reference8 articles.
1. ALS: A bucket of genes, environment, metabolism and unknown ingredients
2. Rethinking ALS: The FUS about TDP-43
3. Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases
4. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
5. The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis
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3. Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations;Chinese Medical Journal;2023-01-20
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