Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Autosomal dominant nocturnal frontal lobe epilepsy. A video- polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome [PDF]
, 1998 A. Oldani
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Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
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Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source
EEG–fMRI of idiopathic and secondarily generalized epilepsies [PDF]
, 2006 We used simultaneous EEG and functional MRI (EEG–fMRI) to study generalized spike wave activity (GSW) in idiopathic and secondary generalized epilepsy (SGE).
Duncan, J.S. +7 more
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Multimorbidity and animal models
Animal Models and Experimental Medicine, EarlyView.Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang +7 more
wiley +1 more source
Disease Progression in Multiple System Atrophy: The ASPIRE Multi‐Modal Biomarker Study
Annals of Neurology, EarlyView.Objective The objective of this study was to characterize changes in candidate biomarkers in early multiple system atrophy (MSA) and identify baseline predictors of faster progression. Methods This 1‐year, multicenter, prospective study assessed clinical, neuroimaging (3T‐magnetic resonance imaging [MRI], dopamine transporter single‐photon emission ...
Margherita Fabbri +26 more
wiley +1 more source
Determining the Health Problems of Alaska Military Youth Academy Participants [PDF]
, 2014 Alaska Military Youth Academy is an accredited residential high school program that utilizes a quasi-military approach to teach life skills to at-risk youth.
Doughty, Mark W.
core
Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders
Annals of Neurology, EarlyView.Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall +6 more
wiley +1 more source
Posterior Reversible Encephalopathy Syndrome with Bilateral Independent Epileptic Foci Precipitated By Guillain-Barrè Syndrome [PDF]
, 2016 Rosario Rossi +3 more
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