| 1 | ATP7A, DSMAX |
| ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A. | |
| Yi L, Kaler S. | |
| Ann N Y Acad Sci 1314:49-54. doi: 10.1111/nyas.12427. Epub 2014 Apr 22. 2014 | |
| 2 | ATP7a, DSMAX |
| Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders. | |
| Merner ND, Dion PA, Rouleau GA. | |
| Clin Genet 79(1):23-34. doi: 10.1111/j.1399-0004.2010.01591.x. 2011 | |
| 3 | ATP7A, DSMAX |
| Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. | |
| Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. | |
| Am J Hum Genet 86(3):343-52. Epub 2010 Feb 18.PMID: 20170900 2010 | |
| 4 | CBSMA, CMT2C, DMNJ, DSMAVA, DSMAX, SMAR, SMARD1, SPSMA |
| A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. | |
| Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M. | |
| J Med Genet 41(3):224-9. No abstract available. 2004 | |