Results 121 to 130 of about 1,312,433 (296)
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
Bayesian Multi-line Intensity Mapping
The Astrophysical JournalLine intensity mapping (LIM) has emerged as a promising tool for probing the 3D large-scale structure through the aggregate emission of spectral lines.
Yun-Ting Cheng +4 more
doaj +1 more source
Atomic norm denoising with applications to line spectral estimation [PDF]
, 2012 Badri Narayan Bhaskar +2 more
openalex +1 more source
On the cyclotron absorption line and evidence of the spectral transition in SMC X-2 during 2022 giant outburst [PDF]
, 2023 G. K. Jaisawal +9 more
openalex +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
The Astrophysical JournalWe present a study of spectral line width measurements from the Extreme-ultraviolet Imaging Spectrometer on Hinode. We used spectral line profiles of Fe xvi 262.984 Å, Fe xiv 264.787 Å, Fe xiv 270.519 Å, Fe xiv 274.203 Å, and Fe xv 284.160 Å, and studied
M. Asgari-Targhi +5 more
doaj +1 more source
Submillimeter, millimeter, and microwave spectral line catalogue [PDF]
This report describes a computer accessible catalogue of submillimeter, millimeter, and microwave spectral lines in the frequency range between 0 and 10000 GHz (i.e., wavelengths longer than 30 micrometers).
Pickett, H. M., Poynter, R. L.
core +1 more source
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam +6 more
wiley +1 more source
Empirical determination of atomic line parameters of the 1.5 μm spectral region [PDF]
, 2021 J. C. Trelles Arjona +2 more
openalex +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