Results 191 to 200 of about 7,569 (277)
ABSTRACT Rationale The thermal decomposition of (CH3)SiO1.5 gels has been systematically investigated by TG‐MS, revealing a complex temperature‐dependent evolution of gaseous species. This work demonstrates that the TG‐MS analysis, coupled with rigorous data processing, allows to set up an insightful methodology to evolve from a qualitative monitoring ...
Renzo Campostrini +3 more
wiley +1 more source
Towards an Extended Cognitive Model of Moral Injury-The Role of Mental Defeat. [PDF]
Letendre M, Reinecke A.
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Self-Perceived Spiritual Care Competencies Among Nursing and Midwifery Students in Slovenia: A Cross-Sectional Study. [PDF]
Mlinar Reljić N +6 more
europepmc +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
A Historical Review on the Andalusian Physicians and the Treatment of Mental Health. [PDF]
Alotaibi H.
europepmc +1 more source
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source

