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
Iterative Reconstruction with Dynamic ElasticNet Regularization for Nuclear Medicine Imaging. [PDF]
Kasai R, Otsuka H.
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
A Survey Assessment of Nuclear Medicine Trainees' Participation and Impact in Multidisciplinary Cancer Conferences: A Single-Center Study. [PDF]
Norouzi G +4 more
europepmc +1 more source
Detection of cardiac amyloidosis on routine bone scintigraphy: an important gatekeeper role for the nuclear medicine physician [PDF]
Mohit Nebhwani +12 more
openalex +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
Mini-review and situation report on the role and usefulness of nuclear medicine imaging for malaria. [PDF]
Duvenhage J +3 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
Emerging Radiopharmaceuticals Beyond FDG for Ovarian Cancer: A Review of Advances in Nuclear Medicine. [PDF]
Veenstra MMK +7 more
europepmc +1 more source

