Results 161 to 170 of about 2,663,903 (351)

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

Granger non-causality tests between (non)renewable energy consumption and output in Italy since 1861: the (ir)relevance of structural breaks [PDF]

open access: yes
The present paper considers an Italian dataset with an annual frequency from 1861 to 2000. It implements Granger non-causality tests between energy consumption and output contrasting methods allowing for structural change with those imposing parameter ...
Andrea Vaona
core  

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck   +15 more
wiley   +1 more source

An Agenda for Energy and Material Efficiency Policy – An Element of Technology Policy for a More Sustainable Use of Natural Resources [PDF]

open access: yes
Discussions about the future options of the energy systems of industrialised countries are held almost exclusively in terms of alternative resources of energy supply and related technologies.
Eberhard Jochem
core  

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

Central Dysmyelination in SSADH‐Deficient Humans and Mice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer   +11 more
wiley   +1 more source

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