| 1 | ATP1A3, DYT12
|
| ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.
|
| Yu L, Peng G, Yuan Y, Tang M, Liu P, Liu X, Ni J, Li Y, Ji C, Fan Z, Zhu W, Luo B, Ke Q.
|
| Front Aging Neurosci. Aug 1;14:933893. doi: 10.3389/fnagi.2022.933893. 2022
|
| 2 | ATP1A2, ATP1A3, DYT12, FHM2
|
| Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.
|
| Poulsen H, Khandelia H, Morth JP, Bublitz M, Mouritsen OG, Egebjerg J, Nissen P.
|
| Nature 467(7311):99-102. Epub 2010 Aug 15.PMID: 20720542 2010
|
| 3 | ATP1A3, DYT12
|
| A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.
|
| Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutiérrez-de-Terán H, Romero J, Toustrup-Jensen MS, Carracedo A, Jen JC, Vilsen B, Sobrido MJ.
|
| Hum Mol Genet 18(13):2370-7. Epub 2009 Apr 7.
2009
|
| 4 | ATP1A2, ATP1A3, DYT12, MHP2
|
| Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.
|
| Ashmore LJ, Hrizo SL, Paul SM, Van Voorhies WA, Beitel GJ, Palladino MJ.
|
| Hum Genet 126(3):431-47. Epub 2009 May 12.PMID: 19455355 2009
|
| 5 | DYT1, DYT11, DYT12, DYT13, DYT15, DYT3, DYT5, DYT6, DYT7, DYT7, DYT8, DYT9, EKD1, EKD2
|
| The pathophysiological basis of dystonias.
|
| Breakefield XO, Blood AJ, Li Y, Hallett M, Hanson PI, Standaert DG.
|
| Nat Rev Neurosci 9(3):222-34. 2008
|
| 6 | ATP1A3, DYT12
|
| The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
|
| Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ.
|
| Brain 130(Pt 3):828-35. Epub 2007 Feb 4.
2007
|
| 7 | ATP1A3, DYT12
|
| ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
|
| Lee JY, Gollamudi S, Ozelius LJ, Kim JY, Jeon BS.
|
| Mov Disord 22(12):1808-9.PMID: 17595045 2007
|
| 8 | ATP1A3, DYT12, DYT8, DYT9, EKD1, EKD2
|
| What happens when the pumps fail? Mutations in ATP1A3 are linked to dystonia.
|
| Warby S.
|
| Clin Genet 66(5):393-5. No abstract available. 2004
|
| 9 | ATP1A3, DYT12
|
| Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
|
| de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ.
|
| Neuron 43(2):169-75.
2004
|
| 10 | DYT12
|
| Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
|
| Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A.
|
| Ann Neurol 46(2):176-82 1999
|