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Original Article

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

, , , , , , , , & show all
Pages 232-236 | Received 10 Feb 2009, Accepted 13 Mar 2009, Published online: 26 Feb 2010

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Si-Qi Dong, Xiao-Ni Liu, Wen-Bo Yang, Yan-Ni Zhou, Jiu-Cun Wang & Xiang-Jun Chen. (2020) An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:5-6, pages 473-476.
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Hui-Xia Lin, Qing-Qing Tao, Qiao Wei, Cong-Xin Chen, Yu-Chao Chen, Hong-Fu Li, Aaron D. Gitler & Zhi-Ying Wu. (2019) Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:3-4, pages 222-228.
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Ted Pfister, Ramnik Sekhon, Mitchell White, Patrick Scott, Susan Munro, Megan Johnston, Sanjay Kalra & Lawrence Korngut. (2013) Familial amyotrophic lateral sclerosis in Alberta, Canada. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:4, pages 273-277.
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Jonathan S. Katz, Hans D. Katzberg, Susan C. Woolley, Stefan L. Marklund & Peter M. Andersen. (2012) Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. Amyotrophic Lateral Sclerosis 13:6, pages 567-569.
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Imen Kacem, Benoît Funalot, Frédéric Torny, Géraldine Lautrette, Peter M. Andersen & Philippe Couratier. (2012) Early onset Parkinsonism associated with an intronic SOD1 mutation. Amyotrophic Lateral Sclerosis 13:3, pages 315-317.
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