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Literature for DOID 480: movement disease
Xenbase Articles :
( Denotes literature images)
Modification of Kv2.1 K+ currents by the silent Kv10 subunits., Vega-Saenz de Miera EC, Brain Res Mol Brain Res. April 7, 2004; 123(1-2):0169-328X. |
An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing., Yang J,Krishnamoorthy G,Saxena A,Zhang G,Shi J,Yang H,Delaloye K,Sept D,Cui J, Neuron. June 24, 2010; 66(6):0896-6273. |
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. |
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome., Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJ, Blood. November 10, 2011; 118(19):1528-0020. |
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus., Piard J,Béreau M,XiangWei W,Wirth T,Amsallem D,Buisson L,Richard P,Liu N,Xu Y,Xu Y,Myers SJ,Traynelis SF,Chelly J,Anheim M,Raynaud M,Maldergem LV,Yuan H, Mov Disord. July 1, 2020; 35(7):1531-8257. |
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. |
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759. |
Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family., Custódio TF,Paulsen PA,Frain KM,Pedersen BP, Life Sci Alliance. February 3, 2021; 4(4):2575-1077. |
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684. |