Remote spatial memory deficits in mouse models of neuropsychiatric disorders with immature dentate gyrus phenotype. [PDF]
Shoji H +6 more
europepmc +1 more source
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague +8 more
wiley +1 more source
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease. [PDF]
Heymans ABM +4 more
europepmc +1 more source
Characteristics of Cerebral Palsy in the Midwestern US
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim +6 more
wiley +1 more source
Knocking out genes to reveal drivers of natural selection on phenotypic traits: a study of the fitness consequences of albinism. [PDF]
Funk AT +5 more
europepmc +1 more source
CSF Mitochondrial DNA: Biomarker of Body Composition and Energy Metabolism in Parkinson's Disease
ABSTRACT Objective Cerebrospinal fluid (CSF) cell‐free mitochondrial DNA (cf‐mtDNA) is a potential biomarker for Parkinson's disease (PD), but its clinical relevance remains unclear. We investigated associations between CSF cf‐mtDNA levels, body composition, nutritional status, and metabolic biomarkers in PD. Methods CSF cf‐mtDNA levels, defined as the
Yasuaki Mizutani +11 more
wiley +1 more source
Identifying and Characterising a Chronic Kidney Disease Electronic-Phenotype Using Electronic Health Record-Derived Data: A Narrative Review of Strategies and Applications. [PDF]
Sparks C, Steinberg AG, Toussaint ND.
europepmc +1 more source
Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72
ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García +3 more
wiley +1 more source
Development of a prognostic multiomic biomarker of progression-free survival in advanced non-small cell lung cancer patients treated with first line immunotherapy. [PDF]
Singh A +8 more
europepmc +1 more source

