Results 81 to 90 of about 142,714 (291)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

The Functional Significance of Cardiac Looping: Comparative Embryology, Anatomy, and Physiology of the Looped Design of Vertebrate Hearts

open access: yesJournal of Cardiovascular Development and Disease
The flow path of vertebrate hearts has a looped configuration characterized by curved (sigmoid) and twisted (chiral) components. The looped heart design is phylogenetically conserved among vertebrates and is thought to represent a significant determinant
Jörg Männer
doaj   +1 more source

A Reappraisal of the Ascending Systems in Man, with Emphasis on the Medial Lemniscus [PDF]

open access: yes, 2005
This volume of "Advances in Anatomy, Embryology and Cell Biology" is based on material assembled by Dr. Jaap H.R. Schoen who was one of the few neuroanatomists to apply the Nauta method to human material.
Marani, E., Schoen, J.H.R.
core   +4 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals 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

1988-2008: Twenty years of BICA [PDF]

open access: yes, 2008
The celebration of BICA’s twentieth anniversary in 2008 provides a timely opportunity to chart and review the Association’s achievements since its inception and, with an eye to the future, to identify continuing challenges - including those inherent in ...
Blyth, Eric
core  

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao   +6 more
wiley   +1 more source

Conclusion [PDF]

open access: yes, 2012
Concluding analysis of the challenges of regulating ...
Elliston, S., McLean, S.
core  

Embryology [PDF]

open access: yesHuman Reproduction, 2012
G. Gandhi   +201 more
openaire   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

open access: yesAdvanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio   +11 more
wiley   +1 more source

Elinvar Materials: Recent Progress and Challenges

open access: yesAdvanced Engineering Materials, EarlyView.
Elinvar materials, exhibiting temperature‐invariant elastic modulus, are critical for precision instruments and emerging technologies. This article reviews recent progress in the field, with a focus on the anomalous thermoelastic behavior observed in key material systems.
Wenjie Li, Yang Ren
wiley   +1 more source

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