Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.360
Abstract: Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. read more here.
Keywords: genetic testing; patients sporadic; sporadic familial; amyotrophic lateral ... See more keywords
The increase in CSF total protein and immunoglobulins in Chinese patients with sporadic amyotrophic lateral sclerosis: A retrospective study
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116840
Abstract: OBJECTIVE The objective of this study was to evaluate total protein (TP) in the cerebrospinal fluid (CSF) and immunoglobulins in the serum and CSF in patients with sporadic amyotrophic lateral sclerosis (sALS). We also assessed… read more here.
Keywords: sporadic amyotrophic; total protein; patients sporadic; csf ... See more keywords
Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2016.1255612
Abstract: ABSTRACT Aim of the study: Mutations in PARK2 are one of the causes of Parkinson's disease (PD). Deletions and duplications/triplications of one exon or exon groups account for a large proportion of mutations in the… read more here.
Keywords: patients sporadic; deletions duplications; parkinson disease; park2 ... See more keywords
Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of thoracic disease"
DOI: 10.21037/jtd-20-2758
Abstract: Background Genetic disorders are strongly associated with aortic disease. However, the identities of genetic mutations in sporadic Stanford type A aortic dissection (STAAD) are not clear. The present study analysed the possible genetic mutations of… read more here.
Keywords: patients sporadic; aortic dissection; stanford type; type aortic ... See more keywords
DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10061380
Abstract: Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults… read more here.
Keywords: patients sporadic; activity dependent; dependent neuroprotective; form ... See more keywords
Comparison of Risk of Metachronous Advanced Colorectal Neoplasia in Patients with Sporadic Adenomas Aged < 50 Versus ≥ 50 years: A Systematic Review and Meta-Analysis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm11020120
Abstract: No specific recommendations are available for the surveillance of young patients aged read more here.
Keywords: risk; aged years; patients sporadic; risk metachronous ... See more keywords