References
- Abel O, Powell JF, Andersen PM, Al-Chalabi A. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat. 2012;33:1345–51.
- Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the Cu/Zn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.
- Hayward C, Swingler RJ, Simpson SA, Brock DJH. A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis. Am J Hum Genet. 1996;59:1165–7.
- Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, et al. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a cis-acting disease modifier in the recessive haplotype. Hum Mutat. 2002;20:473.
- Alavi A, Nafissi S, Rohani M, Zamani B, Sedighi B, Shamshiri H, et al. Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients. Neurobiol Aging. 2013;34:1516.e1–8.
- Broom WJ, Johnson DV, Auwarter KE, Iafrate AJ, Russ C, Al-Chalabi A, et al. SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia. Neurosci Lett. 2008;430:241–5.
- Rosen DR. A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation. Clin Genet. 2004;66:247–50.
- Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology. 2009;72:1634–9.
- Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, et al. Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect. J Neurol Neurosurg Psychiatry. 2004;75:1186–8.
- Battistini S, Ricci C, Giannini F, Calzavara S, Greco G, Del Corona A, et al. G41S SOD1 mutation: a common ancestor for six ALS Italian families with an aggressive phenotype. Amyotroph Lateral Scler. 2010;11:210–5.
- Gamez J, Caponnetto C, Ferrera L, Syriani E, Marini V, Morales M, et al. I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families. Amyotroph Lateral Scler. 2011;12:70–5.
- Lattante S, Marangi G, Luigetti M, Conte A, Mandrioli J, Del Grande A, et al. Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler. 2012;13:241–2.
- Chiò A, Calvo A, Moglia C, Mazzini L, Mora G, PARALS study group. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82:740–6.