Results 221 to 230 of about 368,632 (278)

Patriarchy, Fertility and Excess Female Child Mortality in India. [PDF]

open access: yesSpat Demogr
Singh A   +7 more
europepmc   +1 more source

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher   +10 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann   +17 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

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

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