Results 221 to 230 of about 1,683,867 (302)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini   +9 more
wiley   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li   +3 more
wiley   +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta   +11 more
wiley   +1 more source

Multimodal Characterization of Glymphatic‐Related Magnetic Resonance Imaging Markers in Huntington's Disease: A Multi‐Cohort Retrospective Study

open access: yesAnnals of Neurology, EarlyView.
Objective To characterize magnetic resonance imaging (MRI)‐based glymphatic surrogates in Huntington's disease (HD) using MRI measures of perivascular diffusivity and structural perivascular alterations across multiple large cohorts. Methods We analyzed 2,731 MRI sessions from 880 participants across 3 large retrospective HD cohorts.
Alexia Solomon   +5 more
wiley   +1 more source

Farnesyltransferase Enables Modular Assembly of Dual‐Functional Nanobody Conjugates for in Vivo Imaging of Inflammation

open access: yesAngewandte Chemie, EarlyView.
A modular farnesyltransferase‐based chemoenzymatic platform enables fast, site‐specific labeling of nanobodies for PET imaging of inflammation. CD11b‐targeted PET agents selectively image myeloid‐driven inflammation, while CD45‐targeted PET agents provide sensitive whole‐body immune mapping.
Sneha Venkatachalapathy   +7 more
wiley   +2 more sources

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

Anion Engineering of Surface Frustrated Lewis Pairs for Light‐Assisted CO2 Hydrogenation to Methanol

open access: yesAngewandte Chemie, EarlyView.
Anion engineering through nitrogen incorporation regulates the local coordination environment and promotes the formation of defect‐associated Ga–O/N frustrated Lewis pairs in non‐stoichiometric zinc gallium oxide. The engineered surface sites facilitate heterolytic H2 splitting, while the modified electronic structure enhances light utilization ...
Rui Song   +27 more
wiley   +2 more sources

Mechanical Thrombectomy Versus Medical Management for Large Ischemic Core Stroke Identified before Inter‐Hospital Transfer: A Post Hoc Analysis of the LASTE Trial

open access: yesAnnals of Neurology, EarlyView.
Objective This study assessed the efficacy of thrombectomy in acute ischemic stroke because of large‐vessel occlusion (AIS‐LVO) initially admitted to primary stroke centers (PSC) and subsequently transferred to a comprehensive stroke center (CSC), with a large ischemic core identified before transfer.
Pierre Seners   +258 more
wiley   +1 more source

Home - About - Disclaimer - Privacy