Results 261 to 270 of about 3,604,557 (398)
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
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
Capabilities of Human Biotissue Fluorescence Spectroscopy in the Wearable Multimodal Version. [PDF]
Dunaev AV+3 more
europepmc +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Antioxidant potential of tree bark extracts: Insight from the multi-level output of the Antioxidant Power 1 assay. [PDF]
Rehrl J+5 more
europepmc +1 more source
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
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
Metal chelation approach synergized with surfactant for spectrofluorimetric assay of moxifloxacin with method greenness evaluation. [PDF]
Derayea SM+3 more
europepmc +1 more source
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe+4 more
wiley +1 more source