Results 161 to 170 of about 5,054,451 (380)

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

open access: yesMovement Disorders, EarlyView.
Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.
Theresa Kühnel   +12 more
wiley   +1 more source

Anti-angiogenic effects of valproic acid in a mouse model of oxygen-induced retinopathy

open access: yesJournal of Pharmacological Sciences, 2018
Pathological retinal angiogenesis contributes to the pathogenesis of several ocular diseases. Valproic acid, a widely used antiepileptic drug, exerts anti-angiogenic effects by inhibiting histone deacetylase (HDAC). Herein, we investigated the effects of
Naoto Iizuka   +7 more
doaj  

Miniaturised control of acidity in multiplexed microreactors [PDF]

open access: yesarXiv, 2019
The control of acidity influences the structural assembly of biopolymers that are essential for a wide range of applications. Its miniaturization can increase the speed and the possibilities of combinatorial throughput for their manipulation, similarly to the way that the miniaturization of transistors allows the high throughput of logical operations ...
arxiv  

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar   +4 more
wiley   +1 more source

1614 FATAL VALPROIC ACID (VPA) HEPATOTOXICITY [PDF]

open access: bronze, 1981
D.A. Taylor   +4 more
openalex   +1 more source

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings

open access: yesPediatric Discovery, EarlyView.
Abstract Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases.
Ethan S. Wong   +13 more
wiley   +1 more source

Measuring the appropriateness of carbamazepine and valproic acid prescribing and utilization using a newly implemented online system in the Tabuk Region of Saudi Arabia

open access: yesSaudi Pharmaceutical Journal, 2020
Epilepsy is a common neurologic disorder, which is efficiently treated with carbamazepine and valproic acid. Moreover, Saudi Ministry of Health implemented a new E-system for Poison Control Centers called Awtar to enhance technology utilization in ...
Reem S Al-Balawi   +5 more
doaj  

Prevalence of Fetal Alcohol Spectrum Disorders: A Pilot Study in Western Sweden

open access: yesActa Paediatrica, EarlyView.
ABSTRACT Aim To develop and trial a method for estimating the prevalence of fetal alcohol spectrum disorders (FASD) in Sweden. Methods A school‐based study with a full physical examination, including a dysmorphology assessment, neuropsychological testing, behavioural ratings, academic evaluation and maternal nutritional interview conducted as an add‐on
Valdemar Landgren   +6 more
wiley   +1 more source

Adverse effect of valproic acid on mating behaviour and fertility in Drosophila melanogaster [PDF]

open access: yes, 2012
Drosophila melanogaster, the model organism that has been widely used to study various diseases and also the adverse effects. D. melanogaster can be extrapolated to human system which could facilitate the effect of drugs on reprodn.
Gayathri, D.S., Harini, B.P.
core  

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