Results 201 to 210 of about 443,266 (297)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican 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

Mapping neuropsychological care in pediatric epilepsy: a national survey by the Italian chapter of the international league against epilepsy (LICE). [PDF]

open access: yesEpilepsy Behav Rep
Zanaboni MP   +9 more
europepmc   +1 more source

Irreversible Electroporation for Inferior Turbinate Reduction Ablation in Adults

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Inferior turbinate hypertrophy is a common cause of nasal airway obstruction. An optimal surgical approach should provide effective volume reduction while preserving mucosal integrity and minimizing postoperative morbidity. Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) for non‐thermal ablation ...
Narin Nard Carmel Neiderman   +9 more
wiley   +1 more source

Reassessment of the DTI-ALPS index in focal epilepsy. [PDF]

open access: yesEur Radiol Exp
Chambers S   +15 more
europepmc   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius   +3 more
wiley   +1 more source

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

open access: yesAnnals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring   +18 more
wiley   +1 more source

Cognitive Impairment in Drug-Resistant Epilepsy: A Multidomain Systematic Review. [PDF]

open access: yesBrain Sci
Bargielski M   +5 more
europepmc   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes   +6 more
wiley   +1 more source

Ictal Epileptogenic Network Differences in Posterior Cingulate Epilepsy Subtypes Based on SEEG. [PDF]

open access: yesCNS Neurosci Ther
Yan Z   +10 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy