| 1 | SOD1, STHAP |
| SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis. | |
| Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T. | |
| Brain Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182. 2019 | |
| 2 | SOD1, STHAP |
| Phenotype in an Infant with SOD1 Homozygous Truncating Mutation | |
| Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R. | |
| N Engl J Med. Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. 2019 | |