Results 91 to 100 of about 1,173,672 (312)
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
Ketogenic diet for infantile epileptic spasms
Epilepsia Open, EarlyView.Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury +3 more
wiley +1 more source
Effects of scopolamine on matching to sample paradigm and related tests in human subjects [PDF]
, 2003 This was a double-blind placebo-controlled study with a cross-over design to examine the effects of scopolamine on cognitive functions in young healthy subjects.
Adam, M. +6 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objective Cenobamate (CNB) is a highly effective antiseizure medication (ASM) for focal drug‐resistant epilepsy (DRE); nevertheless, even with CNB treatment and optimized therapy, a substantial proportion of patients continued to experience seizures.
Ilaria Ciullo +8 more
wiley +1 more source
Pedagogics, Psychology, Medical-Biological Problems of Physical Training and Sports, 2014 Purpose: to identify indicators of development of psychomotor function deaf children aged 7-10 years and find out the characteristic features of their manifestation. Material : the study involved 242 children aged 7-10 years, 128 of them deaf.
A.A. Іvahnenko
doaj +1 more source
A decision model applied to alcohol effects on driver signal light behavior [PDF]
, 1978 A decision model including perceptual noise or inconsistency is developed from expected value theory to explain driver stop and go decisions at signaled intersections.
Allen, R. W., Schwartz, S. H.
core +1 more source
Genetic landscape of patients with atypical absence status epilepticus: A systematic review
Epilepsia Open, EarlyView.Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu +2 more
wiley +1 more source
Thousand Aviator Study - Nonvestibular Contributions to Postural Equilibrium Functions [PDF]
Psychomotor performance and postural equilibrium functioning defined by quantitative ataxia test battery, and relation to pilot selection and ...
Fregly, A. R. +3 more
core +1 more source
Environmental Toxicology and Chemistry, EarlyView.Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz +9 more
wiley +1 more source
MatriksMovie: Building The Nation Character Through Movie-Based Realistic Mathematics Education [PDF]
, 2011 The root of RME is Hans Freudenthal’s interpretations, mathematics as human activity and mathematics must be connected to reality. This study developed a mathematics teaching and learning model that includes the characteristics of RME packaged in ...
Adi , Nur Cahyono
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