Results 31 to 40 of about 33,626 (284)

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

open access: yesAdvanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li   +22 more
wiley   +1 more source

Benign familial infantile convulsions: A clinical study of seven Dutch families [PDF]

open access: yes, 2002
Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one Dutch-
Arts, W.F.M. (Willem Frans)   +10 more
core   +1 more source

Modulation of Network Plasticity Opens Novel Therapeutic Possibilities in Cancer, Diabetes, and Neurodegeneration

open access: yesAdvanced Science, EarlyView.
Plasticity changes of molecular networks form a cellular learning process. Signaling network plasticity promotes cancer, metastasis, and drug resistance development. 55 plasticity‐related cancer drug targets are listed (20 having already approved drugs, 9 investigational drugs, and 26 being drug target candidates).
Márk Kerestély   +5 more
wiley   +1 more source

Effects of dance therapy on balance, gait and neuro-psychological performances in patients with Parkinson's disease and postural instability [PDF]

open access: yes, 2012
Postural Instability (PI) is a core feature of Parkinson’s Disease (PD) and a major cause of falls and disabilities. Impairment of executive functions has been called as an aggravating factor on motor performances. Dance therapy has been shown effective
Agnetti, Virgilio   +6 more
core  

Pitfalls in measuring the endocannabinoid 2-arachidonoyl glycerol in biological samples [PDF]

open access: yes, 2007
Background: The endocannabinoid 2-arachidonoyl glycerol (2-AG) undergoes spontaneous isomerization to biologically inactive 1-AG. This effect has not been adequately addressed in previous studies that reported 2-AG concentrations in biological samples ...
Schelling, Gustav, Vogeser, Michael
core   +1 more source

Tardive dyskinesia

open access: yesGeriatric Nursing, 1982
Tardive dyskinesia is now widely recognised as a neurological disorder associated with the administration of antipsychotic drugs. Prevalence is higher among the elderly. The cause is unknown but the hypothesis of hypersensitivity of post-synaptic dopamine receptors is currently generally accepted.
V A, Portnoi, J E, Johnson
openaire   +5 more sources

An update on adenosine A2A receptors as drug target in Parkinson's disease [PDF]

open access: yes, 2015
Adenosine receptors are G protein-coupled receptors (GPCRs) that mediate the physiological functions of adenosine. In the central nervous system adenosine A2A receptors (A2ARs) are highly enriched in striatopallidal neurons where they form functional ...
Arnau de Bolós, Josep M.   +4 more
core   +2 more sources

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

open access: yesAnnals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang   +7 more
wiley   +1 more source

Prevalence of Dyskinesia and OFF by 30-Minute Intervals Through the Day and Assessment of Daily Episodes of Dyskinesia and OFF: Novel Analyses of Diary Data from Gocovri Pivotal Trials. [PDF]

open access: yes, 2019
BACKGROUND: Parkinson\u27s disease (PD) patients using levodopa commonly develop dyskinesia and OFF episodes that reduce quality of life. OBJECTIVE: Evaluate prevalence of troublesome dyskinesia and OFF through the day, assessed by 30-minute intervals ...
Elmer, Lawrence W.   +8 more
core   +1 more source

Lack of tolerance for the anti-dyskinetic effects of 7-nitroindazole, a neuronal nitric oxide synthase inhibitor, in rats [PDF]

open access: yes, 2010
7-Nitroindazole (7-NI) inhibits neuronal nitric oxide synthase in vivo and reduces l-DOPA-induced dyskinesias in a rat model of parkinsonism. The aim of the present study was to determine if the anti-dyskinetic effect of 7-NI was subject to tolerance ...
DA-SILVA, C.A.   +4 more
core   +2 more sources

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