cerebellar ataxia

Literature (5)

Literature for DOID 0050753: cerebellar ataxia

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

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ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair., Cosentino C,Grieco D,Costanzo V, EMBO J. February 2, 2011; 30(3):0261-4189.
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A., García Segarra N,Gautschi I,Mittaz-Crettol L,Kallay Zetchi C,Al-Qusairi L,Van Bemmelen MX,Maeder P,Bonafé L,Schild L,Roulet-Perez E, J Neurol Sci. July 15, 2014; 342(1-2):1878-5883.
Mechanosensory Stimulation Evokes Acute Concussion-Like Behavior by Activating GIRKs Coupled to Muscarinic Receptors in a Simple Vertebrate., Li WC,Zhu XY,Ritson E, eNeuro. January 1, 2017; 4(2):2373-2822.
The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region., Tapken D,Steffensen TB,Leth R,Kristensen LB,Gerbola A,Gajhede M,Jørgensen FS,Olsen L,Kastrup JS, Sci Rep. April 7, 2017; 7:2045-2322.
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia., Stendel C,D'Adamo MC,Wiessner M,Dusl M,Cenciarini M,Belia S,Nematian-Ardestani E,Bauer P,Senderek J,Klopstock T,Pessia M, Int J Mol Sci. May 27, 2020; 21(11):1422-0067.

ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair., Cosentino C,Grieco D,Costanzo V, EMBO J. February 2, 2011; 30(3):0261-4189.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A., García Segarra N,Gautschi I,Mittaz-Crettol L,Kallay Zetchi C,Al-Qusairi L,Van Bemmelen MX,Maeder P,Bonafé L,Schild L,Roulet-Perez E, J Neurol Sci. July 15, 2014; 342(1-2):1878-5883.

The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region., Tapken D,Steffensen TB,Leth R,Kristensen LB,Gerbola A,Gajhede M,Jørgensen FS,Olsen L,Kastrup JS, Sci Rep. April 7, 2017; 7:2045-2322.

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia., Stendel C,D'Adamo MC,Wiessner M,Dusl M,Cenciarini M,Belia S,Nematian-Ardestani E,Bauer P,Senderek J,Klopstock T,Pessia M, Int J Mol Sci. May 27, 2020; 21(11):1422-0067.