Biallelic Nonsense Variants in NEFL May Cause a Non-Length-Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies. [PDF]
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
da Silva Gomes MVV +2 more
europepmc +2 more sources
The impact of Euro 4 compression ignition engines over the air quality in Europe has been analyzed in this work by comparing them with Euro 6d emissions regulation.
José Ramón Serrano +5 more
doaj +1 more source
Detecting short periods of elevated workload. A comparison of nine workload assessment techniques [PDF]
The present experiment tested the merits of 9 common workload assessment techniques with relatively short periods of workload in a car-driving task.
Veltman, Hans A., Verwey, Willem B.
core +2 more sources
The widespread trend of pursuing higher efficiencies in radial turbochargers led to the prompting of this work. A 3D-printed model of the static parts of a radial variable geometry turbine, the vaned nozzle, and the volute, was developed.
José Ramón Serrano +3 more
doaj +1 more source
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis [PDF]
BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease.
Bacon, C +26 more
core +1 more source
3D‐Printed Sulfur‐Derived Polymers With Controlled Architectures for Lithium‐Sulfur Batteries
Rheology‐guided formulation design for direct ink writing enables the fabrication of 3D sulfur copolymer cathodes with controlled architectures for lithium‐sulfur batteries. The printed electrodes exhibit multiscale porosity and high sulfur utilization, delivering enhanced electrochemical performance compared to conventional cast electrodes.
Bin Ling +7 more
wiley +1 more source
Creating Legal Space for Community-based Fisheries and Customary Marine Tenure in the Pacific: Issues and Opportunities [PDF]
The legal environment within which community-based fisheries management (CBFM) will function should be examined to determine whether it supports or will need necessary enhancement to support the implementation of CBFM.
Blaise Kuemlangan
core
Pilot Decontamination in CMT-based Massive MIMO Networks
Pilot contamination problem in massive MIMO networks operating in time-division duplex (TDD) mode can limit their expected capacity to a great extent.
Aminjavaheri, Amir +4 more
core +1 more source
The engineering of colloidal nanocrystals with complex compositions has emerged as a highly active area of research within nanomaterials science. This review covers key aspects of colloidal solid‐solution nanocrystal formation using pulsed laser irradiation.
Marina T. Candela +4 more
wiley +1 more source
Social audit - an important tool to ensure sustainable development of light industry in the Republic of Moldova [PDF]
This paper highlights one of the important components of social responsibility, social audit, a concept that has recently appeared in the professional literature and which is still under-studied in the Republic of Moldova. At the same time, it is already
GHEORGHIȚA, Maria
doaj +1 more source

