Results 151 to 160 of about 738,461 (306)
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
Barriers and enablers of integrated care in the UK: a rapid evidence review of review articles and grey literature 2018-2022. [PDF]
Front Public Health, 2023 Thomson LJM, Chatterjee HJ.
europepmc +1 more source
Grey literature, institutional repositories and the organisational context [PDF]
, 2005 A wide variety of grey literature is produced during the work carried out at a large multidisciplinary scientific research organisation. This paper examines how the grey literature may be managed and the benefits that result. Trends in Technical Reports,
Jones, Catherine (CCLRC) +3 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
An Analysis of Current Grey Literature Document Typology [PDF]
, 2010 This analysis is based on the classification of the systems GreyNet, OpenSIGLE, Czech ASEP, RIV and others. During the analysis of the lists of document types, we have discovered that these typologies contain, besides "real" document types (reports ...
GreyNet, Grey Literature Network Service +2 more
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A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Grey literature in Australian education [PDF]
, 2013 The prevalence of informal publishing or grey literature in education appears to have increased as digital technologies have become main-stream, educators have become more proficient and policies have moved increasingly towards supporting its use.
Weldon, Paul (ACER) +6 more
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Review of grey literature on Ayurveda wound healing formulations and procedures - A systematic review. [PDF]
J Ayurveda Integr Med, 2023 Dudhamal TS.
europepmc +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source