hereditary ataxia

Literature (3)

Literature for DOID 0050951: hereditary ataxia

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

:
(

Denotes literature images)

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia., Chen H,von Hehn C,Kaczmarek LK,Ment LR,Pober BR,Hisama FM, Neurogenetics. April 1, 2007; 8(2):1364-6745.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia., Chen H,von Hehn C,Kaczmarek LK,Ment LR,Pober BR,Hisama FM, Neurogenetics. April 1, 2007; 8(2):1364-6745.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.