Results 191 to 200 of about 9,843,661 (289)
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
Digital divides in telehealth accessibility for cancer care in the United States. [PDF]
Liu L+7 more
europepmc +1 more source
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos+11 more
wiley +1 more source
Burden of hypereosinophilic syndromes in the United States: Patients' perspective. [PDF]
Silver J+7 more
europepmc +1 more source
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin+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
The role of human papillomavirus 16 in oral cavity and laryngeal cancers in the United States. [PDF]
Kava CM+7 more
europepmc +1 more source
Mortality from Influenza and Pneumonia in 50 Large Cities of the United States, 1910-1929
Selwyn D. Collins+3 more
openalex +2 more sources