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
Gestão de sistemas regionais de saúde: um estudo de caso no Rio Grande do Sul, Brasil
Este trabalho tem como objetivo analisar o sistema de gestão de uma região de saúde no Rio Grande do Sul, Brasil, tendo como referencial para análise a Teoria das Macroorganizações.
Juliano de Carvalho Lima +1 more
doaj
Social gains from female education : a cross-national study [PDF]
The authors explore the strength of female secondary education relative to, and in combination with, family planning and health programs in reducing fertility and infant mortality. They find that family planning and health programs do influence fertility
Raney, Laura, Subbarao, Kalanidhi
core
Maternal health planning and prioritization in Chad: developing a supportive tool. [PDF]
Krause A +5 more
europepmc +1 more source
Enablers and inhibitors of community participation in Ghana's Community-based Health Planning and Services programme: a qualitative study in the Builsa North Municipality. [PDF]
Agalga S, Alatinga KA, Abiiro GA.
europepmc +1 more source
Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz +9 more
wiley +1 more source
Utilising a livestock model for wildlife health planning. [PDF]
Patterson S.
europepmc +1 more source
Effects of the community-based health planning and services on anemia and acute malnutrition amongst under-fives in Ghana: A comparative study. [PDF]
Bigool M, Osei Owusu N, Frimpong AA.
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Dr. Abolghasem Bahrami (1894–1950): Physician, Pasteurian, and a Pioneer of Microbiology and Public Health Planning in Iran [PDF]
Bahrami F, Mostafavi E.
europepmc +1 more source

