Results 101 to 110 of about 2,151,009 (319)
The Distribution of Carnosine in the Muscles of the Normal and Decerebrate Cat [PDF]
Toshihiro Mitsuda
openalex +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
wiley +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro+12 more
wiley +1 more source
Background Skeletal muscle is a plastic tissue that adapts to increased mechanical loading/contractile activity through fusion of muscle stem cells (MuSCs) with myofibers, a physiological process referred to as myonuclear accretion.
Aurélie Fessard+8 more
doaj +1 more source
A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE
W. F. H. M. Mommaerts+4 more
openalex +1 more source
Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova+5 more
wiley +1 more source
Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono+8 more
wiley +1 more source