hyperekplexia

Literature (4)

Literature for DOID 0060695: hyperekplexia

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.
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.
A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors., Sheipouri D,Gallagher CI,Shimmon S,Rawling T,Vandenberg RJ, Biomolecules. November 30, 2020; 10(12):2218-273X.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.

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.

A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors., Sheipouri D,Gallagher CI,Shimmon S,Rawling T,Vandenberg RJ, Biomolecules. November 30, 2020; 10(12):2218-273X.