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
ATOMIC: a graph attention network for atopic dermatitis prediction using human gut microbiome. [PDF]
Bong H +7 more
europepmc +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
Creep Behavior and Its Influencing Factors in High-Entropy Superalloys: A Molecular Dynamics Simulation Study. [PDF]
Han K +6 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
COCOMAPS 2.0: a web server for identifying, analyzing, and visualizing atomic interactions at the interface of biomolecular complexes. [PDF]
Chawla M +6 more
europepmc +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
Uncovering molecular determinants of potency and binding affinity in hit compounds targeting FGF14/Nav1.6 complex. [PDF]
Teimouri H +8 more
europepmc +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source

