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
Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Augmenting Electroencephalogram Transformer for Steady-State Visually Evoked Potential-Based Brain-Computer Interfaces. [PDF]
Cyborg Bionic SystYue J +6 more
europepmc +1 more source
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source
Pharmacogenetics of steady-state metabolism, pharmacokinetics, and adverse effects of voriconazole in healthy participants. [PDF]
Drug Metab DisposWu YP +7 more
europepmc +1 more source
Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong +7 more
wiley +1 more source
Inflammatory signatures during the steady state of sickle cell disease in African children
Allotey EA +14 more
europepmc +1 more source
Study on the relationship between the steady-state rolling resistance of radial tires and energy consumption of electric vehicles. [PDF]
Sci RepWang Q, Li A, Yan J.
europepmc +1 more source
Amyotrophic Lateral Sclerosis Prevalence Projection in 2040: A Less Rare Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To project ALS prevalence across multiple countries through 2040, accounting for both population aging and increased survival. Methods Data from the Piemonte and Valle d'Aosta ALS register (PARALS) was used to estimate the trends in incidence and prevalence from 2005 to 2019. Survival trends over this period were also assessed.
Rosario Vasta +18 more
wiley +1 more source