Results 91 to 100 of about 227,548 (263)
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Advanced oxidation technologies: advances and challenges in Iberoamerican countries [PDF]
Environmental Science and Pollution Research, 2014 Vítor J. P. Vilar +2 more
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau +11 more
wiley +1 more source
Heterogeneous electro-Fenton removal of polyacrylamide in aqueous solution over CoFe2O4 catalyst
Water Science and TechnologyPolyacrylamide (PAM) in environmental water has become a major problem in water pollution management due to its high molecular mass, high viscosity and non-absorption by soil.
Shanshan Xu, Yi Yang, Fanxiu Li
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada +7 more
wiley +1 more source
Editorial: Antibiotics in Water: Impacts and Control Technologies
Frontiers in Environmental Science, 2022 Yongjun Zhang +4 more
doaj +1 more source