RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
Regional Integration and Productivity: The Experiences of Brazil and Mexico
This document was presented in the Trade and Integration Network of the Regional Policy Dialogue for the 5th Hemispheric Meeting celebrated on August 14th and 15th, 2003.
López Córdova, José Ernesto +1 more
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Navigating the crossroads: Challenges and opportunities for governance reform in Sudan
There is a critical need for comprehensive governance reform in Sudan, a nation navigating the turbulent shift from decades of authoritarian rule to a fragile post-conflict democracy.
Fawzi Ahmed Abdullah Slom
doaj +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
A New Multi-Dimensional Framework for Analyzing Regional Integration: Regional Integration Evaluation (RIE) Methodology [PDF]
Theories of regional integration typically analyze the regional integration process from the perspective of a single discipline, usually economics. However, such one-dimensional analytical frameworks cannot fully capture the richness and complexity of ...
Park, Donghyun +1 more
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ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
Euroscepticism Revisited - Regional Interest Representation in Brussels and the Link to Citizen Attitudes towards European Integration [PDF]
Recent scholarship has suggested that nation-states will gradually fade away in favor of regions and super-regions as the main actors within a European Union characterized by strong regional identities.
Olsson, Anna
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ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Mutual conditioning of factors of regional economic integration in Europe [PDF]
This paper looks into one of the basic theoretical concepts of mutual cooperation of regions in Europe, known as the concept of Europe of the Regions. Through it could be observed the influence of non-economic as well as economic factors participating in
Srzentić Miloš
doaj

