Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
Minireview: Dynamic Structures of Nuclear Hormone Receptors: New Promises and Challenges [PDF]
S. Stoney Simons +2 more
openalex +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Editorial: Nuclear Receptors and Coregulators in Metabolism and Immunity
Rongrong Fan +2 more
doaj +1 more source
The Nuclear Receptor Nurr1 Modulates the Expression and Activity of PPARγ in Human Pro-Inflammatory Macrophages. [PDF]
Santana-Cisneros E +7 more
europepmc +1 more source
Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira +10 more
wiley +1 more source
Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih +40 more
wiley +1 more source
The nuclear receptor NR6A1 plays an oncogenic role through reprogramming glycolysis in tumors. [PDF]
Liu X +7 more
europepmc +1 more source
The transcriptional co-activator p/CIP binds CBP and mediates nuclear-receptor function
J. Torchia +6 more
semanticscholar +1 more source

