Results 231 to 240 of about 1,414,665 (306)
Burden of bacterial antimicrobial resistance associated with modifiable human antibiotic consumption: An observational study. [PDF]
Singer BJ +8 more
europepmc +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source
Clinical Relevance of Multiplex PCR for Respiratory Pathogens in Hospitalized Adults with Influenza-Like Illness. [PDF]
Gülseren YD, Aydın D, Çetin Duran A.
europepmc +1 more source
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Disentangling the Genetic Relationship Between Sleep and Epilepsy
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le +9 more
wiley +1 more source
Respiratory viral and bacterial co-infections in adults in acute care: A multiplex PCR-based study. [PDF]
Saarela E +5 more
europepmc +1 more source
Expression of Concern: Effects of Capsular Polysaccharide amount on Pneumococcal-Host interactions.
PLOS Pathogens Editors
doaj +1 more source
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang +22 more
wiley +1 more source

