ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Preventive Care and Screening Adherence Among Women Surviving Breast Cancer. [PDF]
Zisa AJ +5 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Cluster-Based Immunization Patterns in Diabetes Mellitus: Insights for Personalized Preventive Care. [PDF]
Gisinger T, Kautzky-Willer A, Leutner M.
europepmc +1 more source
ABSTRACT Paramagnetic rim lesions (PRLs) and choroid plexus (CP) enlargement reflect smoldering inflammation in multiple sclerosis. Their role in cognitive progression remains unexplored. Eighty‐seven early relapsing–remitting MS patients were enrolled at diagnosis and followed longitudinally.
Stefano Ziccardi +15 more
wiley +1 more source
Socio-economic and insurance factors in preventive care: A two-stage weighted structural analysis. [PDF]
Nkouaga F.
europepmc +1 more source
Relocating pediatric, hospital-based care towards preventive care: a qualitative study on modular care provision for children with developmental disabilities. [PDF]
Peters VJT +6 more
europepmc +1 more source
Utilizing Telehealth Counseling Sessions to Improve the Process and Delivery of Secondary Preventive Care for Women with Atherosclerotic Cardiovascular Disease. [PDF]
Zachariah K +5 more
europepmc +1 more source
Barriers to preventive care among US adults of multiple races eligible for type 2 diabetes screening: an observational study. [PDF]
Koyama AK +7 more
europepmc +1 more source

