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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 21, 2020 - Issue 7-8
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Brief Report

A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis

Li ChenDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1, Janshe East Road, Zhengzhou, Henan Province, 450000, ChinaCorrespondence[email protected]
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,
Junmin LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1, Janshe East Road, Zhengzhou, Henan Province, 450000, ChinaView further author information
,
Hong LuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1, Janshe East Road, Zhengzhou, Henan Province, 450000, ChinaView further author information
&
Yanru LiuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1, Janshe East Road, Zhengzhou, Henan Province, 450000, ChinaView further author information
Pages 635-637 | Received 01 Apr 2020, Accepted 22 May 2020, Published online: 05 Jun 2020

Citations (7)

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Read on this site (3)

Xiaoxuan Liu, Ji He, Weiyi Yu & Dongsheng Fan. (2022) A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:7-8, pages 634-637.
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Ting Lu, Jie Yang, Lijun Luo & Dongsheng Wei. (2022) FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:7-8, pages 580-584.
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Ying Wu, Chunyu Li, Tianmi Yang, Junyu Lin & Huifang Shang. (2022) A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:3-4, pages 313-314.
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Articles from other publishers (4)

Peishan WangQiao WeiHongfu LiZhi-Ying Wu. (2023) Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations. Chinese Medical Journal 136:2, pages 176-183.
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Tanya Lehky & Christopher Grunseich. (2021) Juvenile Amyotrophic Lateral Sclerosis: A Review. Genes 12:12, pages 1935.
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Serena Lattante, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Marcella Zollino & Mario Sabatelli. (2020) High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines. Genes 11:10, pages 1123.
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Li Chen, Yali Wang & Jie Xie. (2020) A Human iPSC Line Carrying a de novo Pathogenic FUS Mutation Identified in a Patient With Juvenile ALS Differentiated Into Motor Neurons With Pathological Characteristics. Frontiers in Cellular Neuroscience 14.
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