Results 241 to 250 of about 1,692 (289)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

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

Effects of Biological Sex and Age on Cerebrospinal Fluid Markers—A Retrospective Observational Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebrospinal fluid (CSF) analysis is a key diagnostic tool for neurological diseases. To date, only a few studies have investigated in larger cohorts the effect of age and biological sex on diagnostic markers extracted from CSF. Methods For this retrospective observational study, 4163 CSF findings (2012–2020) were evaluated.
Isabel‐Sophie Hafer   +3 more
wiley   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee   +7 more
wiley   +1 more source

Improvements in Health‐Related Quality of Life With Treat‐to‐Target Urate‐Lowering Therapy in Gout: A Post Hoc Analysis of a Randomized Multicenter Trial

open access: yesArthritis Care &Research, EarlyView.
Objective Although treat‐to‐target urate‐lowering therapy (ULT) is endorsed as best practice in gout management, limited data exist on its impact on health‐related quality of life (HRQoL). We assessed the impact of treat‐to‐target ULT on HRQoL among participants receiving protocolized gout care, identifying factors associated with HRQoL and HRQoL ...
Austin Barry   +16 more
wiley   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

open access: yesArthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla   +13 more
wiley   +1 more source

Adipokines and Associations With Incident Osteoporotic Fracture in Patients With Rheumatoid Arthritis

open access: yesArthritis Care &Research, EarlyView.
Objective We assessed whether circulating adipokines are associated with incident fractures in patients with rheumatoid arthritis (RA). Methods Three adipokines (adiponectin, leptin, and fibroblast growth factor [FGF]‐21) were measured using banked enrollment serum from participants in a longitudinal RA cohort.
Joshua F. Baker   +9 more
wiley   +1 more source

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