Results 241 to 250 of about 233,970 (354)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

PAP900: A dataset of semantic relationships between affective words in Portuguese. [PDF]

open access: yesData Brief
Fernandes Dos Santos A   +3 more
europepmc   +1 more source

Performance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos   +11 more
wiley   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

A longitudinal neuroimaging study of adolescent girls' mentalizing and perspective-taking tendencies. [PDF]

open access: yesDev Cogn Neurosci
Guazzelli Williamson V   +8 more
europepmc   +1 more source

Time‐Frequency Fingerprint Analysis in SEEG Source‐Space to Identify the Epileptogenic Zone

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case study highlights the application of seizure fingerprint analysis in the source‐space of stereo‐EEG (SEEG) data to accurately localize the epileptogenic zone (EZ) in patients with complex cortical malformations. A 25‐year‐old female with extensive bilateral perisylvian polymicrogyria (PMG) presented with intractable focal seizures ...
Yash Shashank Vakilna   +10 more
wiley   +1 more source

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