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Literature for OMIM 128235: DYSTONIA 12; DYT12
Xenbase Articles:
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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. September 2, 2010; 467(7311):0143-5221. |
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.,
Lazarov E,Hillebrand M,Schröder S,Ternka K,Hofhuis J,Ohlenbusch A,Barrantes-Freer A,Pardo LA,Fruergaard MU,Nissen P,Brockmann K,Gärtner J,Rosewich H,
Neurobiol Dis. September 1, 2020; 143:1095-953X.
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