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
Evidence on the performance of nature-based solutions interventions for coastal protection in biogenic, shallow ecosystems: a systematic map. [PDF]
Paxton AB +13 more
europepmc +1 more source
Schutzschild Nature-based-Solutions
In der vorliegenden Arbeit wird die zunehmende Bedeutung von Nature-Based Solutions für die Klimaresilienz im urbanen Raum untersucht. Der Fokus liegt auf der Gemeinde Differdingen in Luxemburg, die durch ihre hohe Versiegelungsrate und Bebauungsdichte eine besondere Anfälligkeit für den urbanen Hitzeinseleffekt und Starkregenereignisse zeigt ...
openaire +1 more source
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
Geodesign to advance boundary work in urban planning: A study in Stockholm focused on nature-based solutions. [PDF]
Adem Esmail B +11 more
europepmc +1 more source
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Nature-based solutions in spatial planning and policies for climate change adaptation: A literature review. [PDF]
Corgo J, Cruz SS, Conceição P.
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source

