Results 171 to 180 of about 4,780,938 (334)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age‐ and BMI‐Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler   +43 more
wiley   +1 more source

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan   +12 more
wiley   +1 more source

Significance in scale space for Hi-C data. [PDF]

open access: yesBioinformatics
Liu R, Zhang Z, Won H, Marron JS.
europepmc   +1 more source

Event memory uniquely predicts memory for large-scale space. [PDF]

open access: yesMem Cognit, 2019
Sargent JQ   +3 more
europepmc   +1 more source

Association of Elevated Serum S100A8/A9 Levels and Cognitive Impairment in Patients With Systemic Lupus Erythematosus

open access: yesArthritis Care &Research, EarlyView.
Objective Cognitive impairment (CI) is common in patients with systemic lupus erythematosus (SLE). Despite its prevalence, the immune mechanisms are not well understood. We previously reported elevated serum levels of S100A8/A9 and matrix metalloproteinase 9 (MMP‐9) in patients with SLE and CI.
Carolina Muñoz‐Grajales   +18 more
wiley   +1 more source

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