Results 131 to 140 of about 339,219 (259)
Commentary: Towards a unifying mechanism for cancelling movements
Frontiers in Psychology, 2019 Olivier A. Coubard
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Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Open EngineeringThe determination of stopping power and the range of protons present in CH3OH, CH2O, and CO2 was accomplished within the energy range of 0.01–1,000 MeV by employing the Bethe equation and Ziegler equation.
Taha Abrar, Kadhim Rashid O.
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Multi-variate quickest detection of significant change process [PDF]
The paper deals with a mathematical model of a surveillance system based on a net of sensors. The signals acquired by each node of the net are Markovian process, have two different transition probabilities, which depends on the presence or absence of a ...
Szajowski, Krzysztof
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Stopping at the Last Renewal Up to a Terminal Time
, 2013 [[abstract]]Given a renewal process and a fixed terminal time , we want to find a strategy that maximizes the probability of stopping, without recall, at the last renewal up to .
Hsiau, Shoou-Ren
core
Glucagon‐Like Peptide‐1 Receptor Agonists in Multiple Sclerosis: A Topical Narrative Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The glucagon‐like peptide‐1 (GLP‐1) receptor agonists (RAs) are a relatively new class of drugs that were initially approved by the US Food and Drug Administration to improve glycemic control in patients with type 2 diabetes mellitus and, subsequently, weight reduction in patients with obesity.
Audrey Y. Chang, Farrah J. Mateen
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey +52 more
wiley +1 more source