NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer+11 more
wiley +1 more source
[A simulation study of the reliability and accuracy of Cox-TEL method for estimating hazard ratio and difference in proportions for long-term survival data containing cured patients]. [PDF]
Zou B, Xu L, Li K, An S.
europepmc +1 more source
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler+43 more
wiley +1 more source
Assessing robustness of hazard ratio estimates to outcome misclassification in longitudinal panel studies with application to Alzheimer's disease. [PDF]
Wang L+5 more
europepmc +1 more source
ABSTRACT Background Stroke is a leading cause of long‐term disability in adults, with upper limb hemiparesis being a common impairment. Traditional training is mostly aimed at paralyzed limbs, but the effect of bilateral training is still unclear.
Fangfang Qian+7 more
wiley +1 more source
Effects of Non‐Aspirin Nonsteroidal Anti‐Inflammatory Drugs on Acute Intracerebral Hemorrhage
ABSTRACT Objective Despite celecoxib, a cyclooxygenase‐2 inhibitor, promoting functional recovery from intracerebral hemorrhage (ICH) by reducing inflammation‐mediated perihematomal edema in rat models, the evidence of its effects on patient outcomes remains limited.
Shin‐Joe Yeh+3 more
wiley +1 more source
ICU‐EEG Pattern Detection by a Convolutional Neural Network
ABSTRACT Objective Patients in the intensive care unit (ICU) often require continuous EEG (cEEG) monitoring due to the high risk of seizures and rhythmic and periodic patterns (RPPs). However, interpreting cEEG in real time is resource‐intensive and heavily relies on specialized expertise, which is not always available.
Giulio Degano+5 more
wiley +1 more source
Mark-specific hazard ratio model with missing multivariate marks. [PDF]
Juraska M, Gilbert PB.
europepmc +1 more source
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald+74 more
wiley +1 more source