Faroese whole genomes provide insight into ancestry and recent selection. [PDF]
Hamid I +12 more
europepmc +1 more source
Metabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis
ABSTRACT Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...
Matteo Zanovello +10 more
wiley +1 more source
Genetic characterization and meta-analysis of the population of the Northern Black Sea region in the 1st millennium CE based on ancient DNA data. [PDF]
Aituganova ED +5 more
europepmc +1 more source
Association Between Neurofilament Light Chain and Real‐World Ambulatory Function in Progressive MS
ABSTRACT Objective Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in multiple sclerosis (MS), yet associations with functional outcomes remain unclear. Longitudinal associations between serum NfL (sNfL) and daily step count (STEPS) from wearable devices were assessed in a large international progressive MS cohort.
Gabby B. Joseph +5 more
wiley +1 more source
Phylogeography and genetic diversity of Pieris rapae across continents. [PDF]
Siam MAH +6 more
europepmc +1 more source
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
Resilience of Breeding Boreal Waterbirds to Harsh Wintering Conditions: Could Climate Warming Smooth Population Declines? [PDF]
Pöysä H, Lammi E, Väänänen VM.
europepmc +1 more source
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source
Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley +1 more source

