Results 251 to 260 of about 284,210 (304)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesIndian J Ophthalmol
Steel CL, Wirostko BM.
europepmc   +1 more source

Institutional animal care and use committees and the challenges of evaluating animal research proposals. [PDF]

open access: yesRes Integr Peer Rev
Pippin JJ   +8 more
europepmc   +1 more source

Perspective of using <i>in vitro</i> models to understand immunotherapy-induced cytokine release syndrome. [PDF]

open access: yesFront Immunol
Perkins E   +9 more
europepmc   +1 more source

Revision of the Choices Nutrient Profiling System. [PDF]

open access: yesNutrients
Smorenburg H   +9 more
europepmc   +1 more source

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