Genetic Association Between Polymyositis/Dermatomyositis and Epilepsy: Insights From Mendelian Randomization and Bioinformatic Analyses. [PDF]
Liu Y +10 more
europepmc +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Circulating metabolites on dental caries risk: A Mendelian randomization study. [PDF]
Shi P, Liu X, Lei F, Hu Z, Xu Z.
europepmc +1 more source
Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani +8 more
wiley +1 more source
Assessing the impact of maternal blood pressure during pregnancy on perinatal health: a wide-angled Mendelian randomization study. [PDF]
Morales-Berstein F +14 more
europepmc +1 more source
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu +11 more
wiley +1 more source
Increased Blood Levels of NfL, GFAP, and Placental Growth Factor After Radiotherapy to the Brain
ABSTRACT In this study, we analyzed biomarkers of neuronal, glial, and vascular injury in longitudinal paired samples of blood and cerebrospinal fluid after prophylactic cranial irradiation in patients with small cell lung cancer. Neurofilament light chain protein (NfL) and glial fibrillary acidic protein (GFAP) increased in serum and cerebrospinal ...
Erik Fernström +5 more
wiley +1 more source
Growth and sleep outcomes after adenotonsillectomy in pediatric mild sleep-disordered breathing. [PDF]
Gong W +8 more
europepmc +1 more source
Integration of Mendelian randomization and transcriptome wide association studies for causal gene identification in ovarian cancer genetic architecture. [PDF]
Yang Q, Zeng Z, Wang J, Wei X.
europepmc +1 more source

