Detalhe da pesquisa
1.
Striatal Indirect Pathway Dysfunction Underlies Motor Deficits in a Mouse Model of Paroxysmal Dyskinesia.
J Neurosci
; 42(13): 2835-2848, 2022 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165171
2.
Episodic and electrical nervous system disorders caused by nonchannel genes.
Annu Rev Physiol
; 77: 525-41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340963
3.
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
Proc Natl Acad Sci U S A
; 112(10): 2935-41, 2015 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25730884
4.
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
Muscle Nerve
; 51(2): 192-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24861851
5.
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
Hum Mol Genet
; 20(12): 2322-32, 2011 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21487022
6.
Familial cortical myoclonus with a mutation in NOL3.
Ann Neurol
; 72(2): 175-83, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22926851
7.
Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred.
Eur Neurol
; 61(1): 39-41, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18948699
8.
Casein kinase iδ mutations in familial migraine and advanced sleep phase.
Sci Transl Med
; 5(183): 183ra56, 1-11, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636092
9.
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
J Clin Invest
; 122(2): 507-18, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22214848
10.
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Cell Rep
; 1(1): 2-12, 2012 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832103
11.
Augmented upregulation by c-fos of angiotensin subtype 1 receptor in nucleus tractus solitarii of spontaneously hypertensive rats.
Hypertension
; 40(3): 335-41, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12215476
12.
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Hum Mol Genet
; 13(24): 3161-70, 2004 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15496428