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Elisa De La Cruz, Claire Guissart, Florence Esselin, Anne Polge, Nicolas Pageot, Guillaume Taieb, Serge Lumbroso, William Camu & Kevin Mouzat. (2022) Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:5-6, pages 458-461.
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Ilaria Martinelli, Elisabetta Zucchi, Annalisa Gessani, Nicola Fini, Adriano Chiò, Valentina Pecoraro, Tommaso Trenti & Jessica Mandrioli. (2020) A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:3-4, pages 296-300.
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Zhang-Yu Zou, Ming-Sheng Liu, Xiao-Guang Li & Li-Ying Cui. (2016) Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 17:3-4, pages 249-252.
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Articles from other publishers (5)
Tanya Lehky & Christopher Grunseich. (2021) Juvenile Amyotrophic Lateral Sclerosis: A Review. Genes 12:12, pages 1935.
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Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso & Kevin Mouzat. (2020) Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study. International Journal of Molecular Sciences 21:18, pages 6807.
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Vincent Picher-Martel, Francis BrunetNicolas Dupré & Nicolas Chrestian. (2020) The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature. Journal of Child Neurology 35:8, pages 556-562.
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QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang & Hui-Fang Shang. (2017) Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review. Scientific Reports 7:1.
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Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou & Xun-Zhe Yang. (2013) De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiology of Aging 34:4, pages 1312.e1-1312.e8.
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