Results 191 to 200 of about 7,569 (277)

Mass Spectrometry for Semiquantitative Analysis of Thermal Decomposition: A Methodological Case Study on the Pyrolysis of a (CH3)SiO1.5 Hybrid Gel

open access: yesRapid Communications in Mass Spectrometry, Volume 40, Issue 21, 15 November 2026.
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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
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

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1951-1955, September 2026.
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

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
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]

open access: yesNurs Open
Mlinar Reljić N   +6 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

open access: yesAnnals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
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

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

open access: yesEpilepsia, Volume 67, Issue 9, Page 4536-4550, September 2026.
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

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