Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
Cocaine-Induced Toxic Leukoencephalopathy, Serotonin Syndrome, and Central Diabetes Insipidus Following Cocaine Overdose: A Case Report of a Fatal Outcome. [PDF]
Kumari R +4 more
europepmc +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Integrated Phytoremediation and Microbial Mitigation Strategies for Sustainable Restoration of Toxic Metal-Contaminated Soils. [PDF]
Hammami I +9 more
europepmc +1 more source
microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan +4 more
wiley +1 more source
Understanding the Link Between Toxic Leadership and Employee Well-being: The Interplay of Employee Turnover, Organizational commitment, Shift timing & Industry Sector. [PDF]
Shukla A, Santosh BR, Vinod S.
europepmc +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source
Biopesticidal Potential of the <i>Cannabis sativa</i> L. Metabolites: A Denoised, Docking-Informed QSAR Model. [PDF]
Karamanova D +5 more
europepmc +1 more source
ABSTRACT Background While autoimmune encephalitis (AE) outcomes vary, serostatus‐specific prognostic determinants and institutional clustering effects remain poorly characterized. We aimed to delineate the distinct prognostic architecture of AE, identifying serostatus‐specific risk factors and potential therapeutic windows.
Xiaohong Tang +17 more
wiley +1 more source

