References
- Brown RH, Al-Chalabi A. Amyotrophic lateral sclerosis. N Engl J Med. 2017;377:162–72.
- Cook C, Petrucelli L. Genetic convergence brings clarity to the enigmatic red line in ALS. Neuron 2019;101:1057–69.
- Wei Q, Chen X, Chen Y, Ou R, Cao B, Hou Y, et al. Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China. Sci China Life Sci. 2019;62:517–25.
- Richards S, ACMG Laboratory Quality Assurance Committee, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody W, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
- Akimoto C, Morita M, Atsuta N, Sobue G, Nakano I. High-resolution melting (HRM) analysis of the Cu/Zn superoxide dismutase (SOD1) gene in Japanese sporadic amyotrophic lateral sclerosis (SALS) patients. Neurol Res Int. 2011;2011:165415.
- Cui F, Cai W, Wang Z, Ren Y, Li M, Sun Z, et al. New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:635–7.
- Watanabe M, Aoki M, Abe K, Shoji M, Iizuka T, Ikeda Y, et al. A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease. Hum Mutat. 1997;9:69–71.
- Marucci G, Morandi L, Bartolomei I, Salvi F, Pession A, Righi A, et al. Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome. Neuromuscul Disord. 2007;17:673–6.