Results 211 to 220 of about 14,999,889 (355)

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

Gestão de sistemas regionais de saúde: um estudo de caso no Rio Grande do Sul, Brasil

open access: yesCadernos de Saúde Pública
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]

open access: yes
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]

open access: yesHealth Policy Plan
Krause A   +5 more
europepmc   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

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

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

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

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