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
Using Risk-Benefit Analysis and the Analytical Hierarchy Process to Decide on the Implementation of Rapid Salmonella Detection Methods in Large Poultry Industries. [PDF]
Magalhães CRP, de Aquino NSM, Tondo EC.
europepmc +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
Bench to bedside: Bridging the gap. [PDF]
Steel CL, Wirostko BM.
europepmc +1 more source
Institutional animal care and use committees and the challenges of evaluating animal research proposals. [PDF]
Pippin JJ +8 more
europepmc +1 more source
Consumer Acceptance of Sustainable Cat Diets: A Survey of 1380 Cat Guardians. [PDF]
Mace JL, Bauer A, Knight A, Nicholles B.
europepmc +1 more source
Perspective of using <i>in vitro</i> models to understand immunotherapy-induced cytokine release syndrome. [PDF]
Perkins E +9 more
europepmc +1 more source
Revision of the Choices Nutrient Profiling System. [PDF]
Smorenburg H +9 more
europepmc +1 more source
Sensitivity analysis of censored output through polynomial, logistic and tobit models: Theory and case study. [PDF]
Kleijnen, J.P.C. +2 more
core +1 more source

