Results 251 to 260 of about 164,635 (296)

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen   +7 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

Glasovna podoba slovenskega jezika skozi čas

open access: yesSlavistična Revija, 2006
Marc L. GREENBERG
doaj  
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Constructing a colonial chief justice: John Lewes Pedder in Van Diemen's Land, 1824-1854

2012
Foundation Chief Justice of Van Diemen's Land, Sir John Lewes Pedder (1793-1859) was appointed by the Colonial Office to administer English law in the colony from 1824. As an official member of the Executive and Legislative Councils, he also provided policy advice and certified local legislation.
openaire   +1 more source

The simplification of complex notation presented in aleatoric forms

2013
The simplification of complex notation presented in aleatoric forms This project seeks to find solutions to questions of complex musical notation and whether they can be simplified by using techniques of limited-aleatory. A folio of compositions has been written, constituting eighty percent of this project.
openaire   +1 more source

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