References
- Andersen PM. Genetics of sporadic ALS. Amyotroph Lateral Scler Other Motor Neuron Disord. 2001;2(Suppl 1): S37–41.
- Rosen DR. Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
- Taupenot L, Harper KL, O'Connor DT. The chromogranin-secretogranin family. N Engl J Med. 2003;348: 1134–49.
- Urushitani M, Sik A, Sakurai T, Nukina N, Takahashi R, Julien JP. Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis. Nat Neurosci. 2006;9:108–18.
- Furukawa Y, Fu R, Deng HX, Siddique T, O'Halloran TV. Disulphide cross-linked protein represents a significant fraction of ALS-associated Cu/Zn superoxide dismutase aggregates in spinal cords of model mice. Proc Natl Acad Sci U S A. 2006;103:7148–53.
- Rakhit R, Crow JP, Lepock JR, Kondejewski LH, Cashman NR, Chakrabartty A. Monomeric Cu/Zn superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis. J Biol Chem. 2004;279:15499–504.
- Ezzi SA, Urushitani M, Julien JP. Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation. J Neurochem. 2007;102:170–8.
- Schrott-Fischer A, Bitsche M, Humpel C, Walcher C, Maier H, Jellinger K, . Chromogranin peptides in amyotrophic lateral sclerosis. Regul Pept. 2009;152:13–21.
- Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, . Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009;106: 21777–82.
- Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
- Wittwer CT. High resolution DNA melting analysis: advancements and limitations. Hum Mutat. 2009;30:857–9.
- Logroscino G, Traynor BJ, Hardiman O, Chio A, Couratier P, Mitchell JD, . Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry. 2008;79:6–11.
- Van Vught PW, Veldink JH, van den Berg LH. P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population. Proc Natl Acad Sci U S A. 2010; 107:19.
- Van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, . Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009;41: 1083–7.