Results 161 to 170 of about 5,054,451 (380)
Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy
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
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]
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
Variable in vivo binding of valproic acid in epilepsy patients being medicated with other anticonvulsants. [PDF]
Dan Haidukewych, Ernst A. Rodin
openalex +1 more source
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]
D.A. Taylor+4 more
openalex +1 more source
Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings
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
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
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]
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