Results 221 to 230 of about 40,348 (331)
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Could photoperiodic responses have evolved before the emergence of circadian clocks? [PDF]
Jabbur ML, Johnson CH.
europepmc +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Quantum sensing for NASA science missions. [PDF]
Mercer CR +6 more
europepmc +1 more source
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
Formulation and Characterization of One-Way Radiometric Tracking with the Iris Radio Using a Chip-Scale Atomic Clock [PDF]
Todd Ely, Zaid J. Towfic, Dana Sorensen
openalex +1 more source
Optical frequency comb integration in radio telescopes: advancing signal generation and phase calibration. [PDF]
Hyun M +10 more
europepmc +1 more source
Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen +10 more
wiley +1 more source
Co-transmission of radio frequency reference and data signal over multi-core fiber. [PDF]
Liu L, Liu F, Jin Z, Gui Y, Shieh W.
europepmc +1 more source

