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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich +10 more
wiley +1 more source
Comparing the Level of Pain and Oral Hygiene Status in Patients Receiving Fixed Appliance Therapy Versus Clear Aligner Therapy During the First Phase of Orthodontic Treatment: An In Vivo Study. [PDF]
CureusB R +6 more
europepmc +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
Can Anthropomorphic Interfaces Improve the Ergonomics and Safety Performance of Human-Machine Collaboration in Multitasking Scenarios?-An Example of Human-Machine Co-Driving in High-Speed Trains. [PDF]
Biomimetics (Basel)Jiang Y, Zhi J.
europepmc +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
Icones plantarum novarum vel imperfecte cognitarum floram Rossicam, imprimis Altaicam, illustrantes
Carl Friedrich von Ledebour
openalex +2 more sources
From data collection to design principles: A study of smartwatch faces for enhanced information visualization. [PDF]
PLoS OneDong M, Bian Z, Zhu Y.
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source