Results 91 to 100 of about 39,061 (262)
Interactions between humans and wildlife are frequent in India, requiring stakeholders to devise mitigation strategies that benefit both humans and wildlife.
Crystal A Crown, Kalli F Doubleday
doaj +1 more source
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
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Narrative Media Framing in Political Discourse
Accepted to ACL 2025 ...
Yulia Otmakhova 0001, Lea Frermann
openaire +4 more sources
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
ANALISIS FRAMING PEMBERITAAN RESPONS AHMAD SAHRONI TERKAIT ISU BUBARKAN DPR
Penelitian ini menganalisis framing pemberitaan media terhadap respons Ahmad Sahroni dalam menanggapi isu pembubaran Dewan Perwakilan Rakyat (DPR). Isu tersebut berkembang menjadi wacana publik yang luas setelah pernyataan Ahmad Sahroni diberitakan dan ...
Syuhada Syuhada, Putrawan Yuliandri
doaj +1 more source
Objective Systemic sclerosis (SSc) is characterized by cardiovascular risk excess not fully explained by traditional factors. Whether the severity of microvascular damage correlates with structural subclinical atherosclerosis remains unclear. We investigated the relationship between nailfold videocapillaroscopy (NVC) abnormalities and carotid ...
Eugenio Capparelli +13 more
wiley +1 more source
This article examines how online news frames environmental issues in the corn development program in Dompu, West Nusa Tenggara, Indonesia. Furthermore, this article uses qualitative-exploratory research to analyze the news content with the analytical ...
Baskoro Wicaksono +4 more
doaj +1 more source

