ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Spiro-Induced Strain as a Design Principle for Long-Lived Singlet Diradicals with π-Single Bond Character. [PDF]
Murata T, Abe M.
europepmc +1 more source
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Finite-temperature toroidal moment amenable to direct observation in an Fe<sub>10</sub>Dy<sub>10</sub> molecular ring. [PDF]
Soncini A +10 more
europepmc +1 more source
Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli +13 more
wiley +1 more source
Gallylene-Mediated C-C Bond Activation of Diphenylcyclopropenone and Chalcogen Atom Insertion into a Ga-C Bond. [PDF]
Mukai N, Iwasaki S, Kodama T, Tobisu M.
europepmc +1 more source
Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
Catalytic Ammonia Synthesis Over Metal-Free Silicon Disubstituted Cyclo[18]carbon: A Density Functional Theory Study. [PDF]
Arora A, Sen S, Pal S.
europepmc +1 more source
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai +13 more
wiley +1 more source
The Importance of Going beyond the Independent Atom Model When Predicting UED Signals from Simulations. [PDF]
Hutton L +3 more
europepmc +1 more source

