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65 Newest Publications about the topic dyskinesia
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Riding the wave of ependymal cilia: Genetic susceptibility to hydrocephalus in primary ciliary dyskinesia
17-05-2013 | Lance Lee, Journal of Neuroscience Research, 2013
Congenital hydrocephalus is a relatively common and debilitating birth defect with several known physiological causes. Dysfunction of motile cilia on the ependymal cells that line the ventricular surface of the brain can result in hydrocephalus by hindering the proper flow of cerebrospinal ...
Multilocus genetic models of handedness closely resemble single‐locus models in explaining family data and are compatible with genome‐wide association studies
30-04-2013 | I. C. McManus, Angus Davison, John A. L. Armour, Annals of the New York Academy of Sciences, 2013
Right‐ and left‐handedness run in families, show greater concordance in monozygotic than dizygotic twins, and are well described by single‐locus Mendelian models. Here we summarize a large genome‐wide association study (GWAS) that finds no significant associations with handedness and is ...
Association of the dopamine β‐hydroxylase 19 bp insertion/deletion polymorphism with positive symptoms but not tardive dyskinesia in schizophrenia
05-04-2013 | Na Zhou, Qiong Yu, Xiaokun Li, Yaqin Yu, Changgui Kou, Wenjun Li, Hongqin Xu, Xingguang Luo, Lingjun Zuo, Thomas R. ..., Human Psychopharmacology: Clinical and Experimental, 2013
Objective Overactivity of dopaminergic neurotransmission is a putative mechanism of tardive dyskinesia (TD). Dopamine beta‐hydroxylase (DBH) is a key enzyme in the conversion of dopamine to norepinephrine, and plasma DBH activity is altered in TD patients. This study examined whether the ...
Haloperidol‐induced striatal Nur77 expression in a non‐human primate model of tardive dyskinesia
01-04-2013 | Souha Mahmoudi, Pierre J. Blanchet, Daniel Lévesque, European Journal of Neuroscience, 2013
Abstract Tardive dyskinesia (TD) is a delayed and potentially irreversible motor complication arising in patients chronically exposed to antipsychotic drugs. As several modern (so‐called atypical) antipsychotic drugs are common offenders, combined with the widening clinical indications ...
Clinico‐genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations
29-03-2013 | L. C. S. Tan, K. Methawasin, E. W. L. Teng, A. R. J. Ng, S. H. Seah, W. L. Au, J. J. Liu, J. N. Foo, Y. Zhao, E. K. Tan, European Journal of Neurology, 2013
Background and purpose Mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesias (PKD); however, not many detailed clinico‐genetic correlations have been performed. Methods To investigate PRRT2 mutations in a mixed Asian PKD population and ...
Movement disorders in patients with schizophrenia and a history of substance abuse
27-03-2013 | Lars K. Hansen, Bina Nausheen, Deborah Hart, David Kingdon, Human Psychopharmacology: Clinical and Experimental, 2013
Objective The movement disorders acute dystonia, akathisia, Parkinsonian symptoms and tardive dyskinesia [extrapyramidal side effects (EPSs)] are recognized adverse effects of antipsychotic medication. Previous studies have indicated that substance abuse in patients with schizophrenia can ...
PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China
17-03-2013 | Y. P. Chen, W. Song, J. Yang, Z.‐Z. Zheng, R. Huang, K. Chen, B. Zhao, X. P. Chen, J.‐M. Burgunder, H.‐F. Shang, European Journal of Neurology, 2013
Background and purpose Proline‐rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely ...
Loss of function mutations in CCDC114 cause Primary Ciliary Dyskinesia
25-02-2013 | Daniel Heqing Wu, Roshni R Singaraja, Clinical Genetics, 2013
References (1) Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung bronchiectasien bei situs viscerum inversus. Betr Klin Tuberk. 83, 498–501 (1933). (2) Afzelius BA. A human syndrome caused by immotile cilia. Science 193, 317–319 (1976). Splice‐site mutations in the ...
PRRT2 mutations and paroxysmal disorders
09-02-2013 | A. Méneret, C. Gaudebout, F. Riant, M. Vidailhet, C. Depienne, E. Roze, European Journal of Neurology, 2013
In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review of the literature on PRRT2 mutation‐associated disorders. Our objectives were to describe the wide clinical spectrum ...
Use of catechol‐O‐methyltransferase inhibition to minimize L‐3,4‐dihydroxyphenylalanine‐induced dyskinesia in the 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine‐lesioned macaque
03-01-2013 | Philippe Huot, Tom H. Johnston, Tessa Snoeren, James B. Koprich, Michael P. Hill, Susan H. Fox, Jonathan M. Brotchie, European Journal of Neuroscience, 2013
Abstract L‐3,4‐dihydroxyphenylalanine (L‐DOPA)‐induced dyskinesia is a complication of dopaminergic treatment in Parkinson's disease. Lowering the L‐DOPA dose reduces dyskinesia but also reduces the antiparkinsonian benefit. A therapy that could enhance the antiparkinsonian action of ...
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