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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 17, 2016 - Issue 7-8
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H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression

Zhang-Yu ZouDepartment of Neurology, Fujian Medical University Union Hospital, Fuzhou, and ;Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
,
Ming-Sheng LiuDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
,
Xiao-Guang LiDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
&
Li-Ying CuiDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaCorrespondence[email protected]
Pages 610-613 | Received 01 Apr 2016, Accepted 13 May 2016, Published online: 27 Jun 2016

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Ola Nakken, Jonas Christoffer Lindstrøm, Ole-Bjørn Tysnes & Trygve Holmøy. (2018) Assessing amyotrophic lateral sclerosis prevalence in Norway from 2009 to 2015 from compulsory nationwide health registers. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:3-4, pages 303-310.
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Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal & A. Nazlı Başak. (2023) Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report. Frontiers in Genetics 14.
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Eva Bagyinszky, John Hulme & Seong Soo A. An. (2023) Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy. Cells 12:15, pages 1948.
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Naoki Suzuki, Ayumi Nishiyama, Hitoshi Warita & Masashi Aoki. (2022) Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy. Journal of Human Genetics 68:3, pages 131-152.
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Munishikha Kalia, Mattia Miotto, Deborah Ness, Sarah Opie-Martin, Thomas P. Spargo, Lorenzo Di Rienzo, Tommaso Biagini, Francesco Petrizzelli, Ahmad Al Khleifat, Renata Kabiljo, Tommaso Mazza, Giancarlo Ruocco, Edoardo Milanetti, Richard JB Dobson, Ammar Al-Chalabi & Alfredo Iacoangeli. (2023) Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression. Computational and Structural Biotechnology Journal 21, pages 5296-5308.
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Shirong Li, Junyu Lin, Chunyu Li, Yongping Chen, Bei Cao, Tianmi Yang, Qianqian Wei, Bi Zhao, Xueping Chen & Huifang Shang. (2022) Clinical and genetic study of a Chinese family affected by both amyotrophic lateral sclerosis and autosomal dominant polycystic kidney disease. Frontiers in Neurology 13.
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Rishabh Chaudhary, Vipul Agarwal, Mujeeba Rehman, Arjun Singh Kaushik & Vikas Mishra. (2022) Genetic architecture of motor neuron diseases. Journal of the Neurological Sciences 434, pages 120099.
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Dongchao Shen, Xunzhe Yang, Yanying Wang, Di He, Xiaohan Sun, Zhengyi Cai, Jinyue Li, Mingsheng Liu & Liying Cui. (2021) The Gold Coast criteria increases the diagnostic sensitivity for amyotrophic lateral sclerosis in a Chinese population. Translational Neurodegeneration 10:1.
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Lu Tang, Yan Ma, Xiao-lu Liu, Lu Chen & Dong-sheng Fan. (2019) Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history. Translational Neurodegeneration 8:1.
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Ammar Al-Chalabi, Leonard H. van den Berg & Jan Veldink. (2016) Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nature Reviews Neurology 13:2, pages 96-104.
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