Results 151 to 160 of about 2,891,562 (358)

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 Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang   +11 more
wiley   +1 more source

La photographie, une innovation plurielle ?

open access: yesTechnologie et Innovation, 2020
Amandine Gabriac
doaj   +1 more source

In Vitro Modeling of Natural Killer Cell Cytotoxicity to Inform Personalized ALS Therapeutics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natural killer (NK) cells might contribute to motor neuron death in amyotrophic lateral sclerosis (ALS) through direct cytotoxicity, a process that could be inhibited with the FDA‐approved JAK/STAT pathway inhibitor, tofacitinib. This study aimed to verify that tofacitinib can suppress NK cell cytotoxicity, investigate if immune cell
Benjamin J. Murdock   +8 more
wiley   +1 more source

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