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
The health quality of the diet and selected health indicators of Polish e-sports players. [PDF]
Mazur-Kurach P +3 more
europepmc +1 more source
Network Localization of Fatigue in Multiple Sclerosis
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo +12 more
wiley +1 more source
Towards a resource for multilingual lexicons: an MT assisted and human-in-the-loop multilingual parallel corpus with multi-word expression annotation. [PDF]
Han L +5 more
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Possible link between the apparently pathogenic <i>FANCI</i> variant and beneficial effects in sports performance. [PDF]
Berdyński M +5 more
europepmc +1 more source
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Distinct impact of RNF213 p.R4810K genotype on transdural collateral formation across Japanese Asian and Polish Caucasian Moyamoya patients. [PDF]
Szarek D +5 more
europepmc +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Correction: Stroma-driven horizontal transfer of TCA-related proteins mediates metabolic plasticity and Imatinib resistance in chronic myeloid leukemia. [PDF]
Chroscicki P +15 more
europepmc +1 more source

