Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. [PDF]
Neurol Genet, 2020 Thuriot F +12 more
europepmc +1 more source
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
Annals of Clinical and Translational Neurology, EarlyView.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
Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy [PDF]
, 2001 Jun‐ichi Kira
openalex +1 more source
CSF Mitochondrial DNA: Biomarker of Body Composition and Energy Metabolism in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Managing long COVID in people with multiple sclerosis and related disorders (pwMSRD) is complex due to overlapping symptoms. To address evidence gaps, we evaluated long COVID susceptibility in pwMSRD versus controls and its associations with multi‐domain function and disability.
Chen Hu +15 more
wiley +1 more source
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance [PDF]
, 2012 Giulia Paolella +6 more
openalex +1 more source
Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72
Annals of Clinical and Translational Neurology, EarlyView.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
Body Image Perception: Adolescent Boys and Avatar Depiction in Video Games [PDF]
, 2016 Research on mass media’s impact on body image has mostly been focused on females thus far. Of the little research that has been done on male body image, most of it has been focused on adult males, and therefore the effect of mass media on adolescent boys’
Raman, Usha
core +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Spinal bulbar muscular atrophy, an inherited neurodegenerative disease: Potential mechanisms and therapeutic targets [PDF]
, 2017 Raj Kumar
openalex +1 more source