Results 151 to 160 of about 23,549,597 (312)
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Differences in brain activity induced by imagination of real world and online world activities
Cogent PsychologyThe present study investigated if there are differences in the neural activity of the healthy human brain during the imagination of activities from the real world in comparison to the imagination of activities from the online world. Using functional MRI,
Ariana Barmayoun +2 more
doaj +1 more source
Disrupted functional connectivity of the brain reward system in substance use problems: a meta-analysis of functional neuroimaging studies [PDF]
, 2021 Jules R. Dugré +2 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Ideas are not like other assets. [PDF]
Intellectual Property Rights (IPRs) are supposed to be a system to reward creative thinkers. But Danny Quah finds that all too often they fail both in theory and in practice. Here he explores other possibilities, particularly in relation to computers and
Quah, Danny
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Schizophrenia: from neurophysiological abnormalities to clinical symptoms
Frontiers in Psychology, 2015 Anna eCastelnovo +3 more
doaj +1 more source