Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730499 | PMC |
| http://dx.doi.org/10.1128/CMR.00128-19 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical and demographic predictors of the need for pharmacotherapy in neonatal abstinence syndrome.
Front Pediatr
August 2025
Tufts Clinical and Translational Science Institute, Boston, MA, United States.
Objective: Development and validation of a clinical prediction model for receipt of pharmacotherapy for Neonatal Abstinence Syndrome (NAS).
Study Design: Data from three cohorts included opioid exposed neonates ≥37 weeks gestation. Primary outcome was the receipt of pharmacotherapy utilizing a modified Finnegan Neonatal Abstinence Scoring System (FNASS).
Pathway-Specific Polygenic Scores for Predicting Clinical Lithium Treatment Response in Patients With Bipolar Disorder.
Biol Psychiatry Glob Open Sci
September 2025
Discipline of Psychiatry, School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Background: Polygenic scores (PGSs) hold the potential to identify patients who respond favorably to specific psychiatric treatments. However, their biological interpretation remains unclear. In this study, we developed pathway-specific PGSs (PS) for lithium response and assessed their association with clinical lithium response in patients with bipolar disorder.
View Article and Find Full Text PDFAAV8-based gene replacement therapy for hereditary spastic paraplegia type 5.
Mol Ther Methods Clin Dev
September 2025
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessive neurological disorder caused by mutations in the CYP7B1 gene, which encodes cholesterol 7α-hydroxylase, an essential enzyme in cholesterol metabolism. These mutations lead to elevated levels of 25- and 27-hydroxycholesterol, oxysterols known to be neurotoxic and blood-brain-barrier permeable. Their accumulation contributes significantly to SPG5 pathogenesis, resulting in spastic gait disturbance and severely impaired quality of life.
View Article and Find Full Text PDFAuthor Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Nat Genet
July 2025
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
Author Correction: LILRB3 genetic variation is associated with kidney transplant failure in African American recipients.
Nat Med
May 2025
Renal Division, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.