Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall +16 more
wiley +1 more source
Assessment of Health Facility Compliance with Standards and Perception of Adolescents to Quality of Sexual and Reproductive Health Services in Kilindi, Tanga Tanzania [PDF]
Promoting healthy practices during adolescence and taking steps for better protection of young people from health risks is critical to the future of countries‘ health.
Maro, G, Maro, Godson
core
Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati +10 more
wiley +1 more source
Institutional Policy for Open Access to Scientific Publications
The Centre’s compliance to open access principles The Norwegian Knowledge Centre for the Health Services (NOKC) encourages communication and exchange of the research results from our institutional activities, to increase their visibility and impact in ...
Norwegian Knowledge Centre for the Health Services
core
Access to health services during the Colombian armed conflict: a challenge for the population with disabilities in the department of Meta. [PDF]
Rodríguez Caicedo N +3 more
europepmc +1 more source
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Effects of Health Information Access and Health Service Access on Health Literacy and Health Behavior [PDF]
Firda Hidayati +3 more
openaire +1 more source
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source

