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
Development of Digital Sampling for Spaceborne Fourier Transform Spectrometers Using Dual Reference Channel. [PDF]
Sensors (Basel)Appiani A, Scaccabarozzi D, Saggin B.
europepmc +1 more source
Impact of multiple disturbances on microbiological quality of urban and peri-urban lakes
, 2012 Adélaïde Roguet, Françoise S. Lucas
openalex +1 more source
Generalized Disturbance of DNA Methylation in the Uterine Decidua in the CBA/J × DBA/2 Mouse Model of Pregnancy Failure1 [PDF]
, 2013 Lucia Brown +4 more
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Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth +8 more
wiley +1 more source
Buffering the effects of work stress on anxiety and depression: a moderated mediation model of physical activity enjoyment and sleep disturbance in China. [PDF]
BMC PsycholLi K, Pai CH.
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Spatial heterogeneous relationship between environmental quality and human disturbances: a case study in Ili Valley, China. [PDF]
Sci RepAbulizi A, Yu T, Yerkenhazi A.
europepmc +1 more source
Unsteady transonic small-disturbance theory including entropy and vorticity effects [PDF]
, 1989 John T. Batina
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