Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Separation and quantitative evaluation for the nonlinear effects in the motion response of floating structures [PDF]
Shujian Gao +4 more
openalex +1 more source
Segmentation by Color Influences Responses of Motion-Sensitive Neurons in the Cortical Middle Temporal Visual Area [PDF]
, 1999 Lisa J. Croner, Thomas D. Albright
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Steady Response of a Rigid Rotor on Flexible Bearings Subjected to Support Motion
, 1981 Akiyoshi TAMURA +2 more
openalex +2 more sources
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source
Discomfort of seated persons exposed to low frequency lateral and roll motion
, 2012 Passengers of land transport are exposed to horizontal and rotational oscillations at frequencies less than 1 Hz which may cause vibration discomfort and motion sickness.
Beard, George
core
MECHATRONICS MOTION CONTROL DESIGN OF ELECTRIC MACHINES FOR DESIRED DEADBEAT RESPONSE SPECIFICATIONS, SUPPORTED AND VERIFIED BY NEW MATLAB BUILT-IN FUNCTION AND SIMULINK MODEL [PDF]
, 2013 Farhan A. Salem
openalex
Influence of Motion Picture Rating on Adolescent Response to Movie Smoking [PDF]
, 2012 James D. Sargent +2 more
openalex +1 more source