Results 171 to 180 of about 572,637 (334)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

Effects of antioxidant co-supplementation therapy on spermatogenesis dysfunction in relation to the basal oxidation-reduction potential levels in spermatozoa: A pilot study. [PDF]

open access: yesReprod Med Biol, 2022
Yamasaki K   +11 more
europepmc   +1 more source

Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia   +20 more
wiley   +1 more source

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos   +17 more
wiley   +1 more source

Rapid screening of critically ill patients for low plasma vitamin C concentrations using a point-of-care oxidation-reduction potential measurement. [PDF]

open access: yesIntensive Care Med Exp, 2021
Rozemeijer S   +5 more
europepmc   +1 more source

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh   +22 more
wiley   +1 more source

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