The clinical utility of a riskâmodifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1897
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of… read more here.
Keywords: spinal muscular; utility risk; muscular atrophy; clinical utility ... See more keywords
Improving 10-year cardiovascular risk prediction in apparently healthy people: flexible addition of risk modifiers on top of SCORE2.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of preventive cardiology"
DOI: 10.1093/eurjpc/zwad187
Abstract: BACKGROUND In clinical practice, factors associated with cardiovascular disease (CVD) like albuminuria, education level, or coronary artery calcium are often known, but not incorporated in cardiovascular risk prediction models. The aims of the current study… read more here.
Keywords: methodology; modifying characteristics; risk; prediction ... See more keywords