Results 101 to 110 of about 20,553 (236)
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia +4 more
wiley +1 more source
Fenfluramine in Rett syndrome: A multidimensional clinical study
Abstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder frequently associated with drug‐resistant epilepsy, autonomic dysfunction, respiratory abnormalities, sleep disturbances, and behavioral impairment. Fenfluramine has shown efficacy in developmental and epileptic encephalopathies and may provide broader therapeutic benefits ...
Elena Gonzalez‐Alguacil +11 more
wiley +1 more source
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew +12 more
wiley +1 more source
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin +9 more
wiley +1 more source
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia +4 more
wiley +1 more source
ABSTRACT Research has increasingly highlighted the prevalence of emotionally ambivalent experiences for employees at work, with several self‐regulatory benefits emerging. Yet we do not have a full understanding of which work‐related contexts yield generative or maladaptive consequences of emotional ambivalence.
David F. Arena Jr. +4 more
wiley +1 more source
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches. [PDF]
Lombardi S +3 more
europepmc +1 more source
ABSTRACT Digital platform (DP) enterprises have risen to the top of the global economy by inverting traditional business models. They earn money through matchmaking, transaction facilitation, and efficient orchestration of other stakeholders' resources.
Lukas R. G. Fitz, Jochen Scheeg
wiley +1 more source
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. [PDF]
Bezzerri V +5 more
europepmc +1 more source

