Results 131 to 140 of about 319,148 (263)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Gene Therapy Using Recombinant Adeno-Associated Virus for Leber Congenital Amaurosis Induced by RPE65 Mutation. [PDF]
Clin OphthalmolOwliaee I +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
The dose makes the poison: Mechanisms of cytotoxicity of high-dose AAV vectors. [PDF]
Mol Ther AdvFlotte TR.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Understanding the Distribution of Muscidae Flies and Their Role as Vectors of Bacterial Pathogens in South Africa: A Review Using BOLD Barcoding Data. [PDF]
Vet Med SciPhetla V +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman +5 more
wiley +1 more source
Evidence of kinship, overwintering, and Wolbachia presence in Aedes albopictus in urban areas and points of entry in the Netherlands. [PDF]
Parasit VectorsIbáñez-Justicia A +13 more
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source