Results 81 to 90 of about 981,180 (299)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Geophysical Research LettersParker Solar Probe (PSP) uses Venus gravity assists (VGA) to achieve the closest orbits to the Sun by a spacecraft. During the third (VGA3) and fourth (VGA4) Venus gravity assists, the PSP entered the Venusian ionosphere.
Speero M. Tannous +3 more
doaj +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals 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
An X-ray and electron microscope study of tropomyosin [PDF]
, 1948 W. T. ASTBURY, R. Reed, L. C. Spark
openalex +1 more source
Annals 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
Interpretation of Electron Densities from Corona Brightness [PDF]
, 1947 C. W. Allen
openalex +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals 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
Small ScienceMetallic nanoparticles are essential materials in various applications, such as nanomedicine, nanotechnology, and catalysis. While it is known that their catalytic performance is determined by their microstructure and thus by their preparation, the ...
Ansgar Meise +3 more
doaj +1 more source