Results 101 to 110 of about 3,376,946 (257)
Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome
Annals of Clinical and Translational NeurologyUniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal‐recessive diseases. We present the case of a 3‐year‐old male with a blended phenotype of TECPR2‐related hereditary sensory and autonomic neuropathy (HSAN9) and ...
Umar Zubair +7 more
doaj +1 more source
Long-Term Real-World Experience with Safinamide in Patients with Parkinson’s Disease
Brain SciencesIntroduction: Randomized clinical trials should be complemented with data from real-world studies. We report our long-term experience with safinamide in a movement disorders unit.
Anna Planas-Ballvé +7 more
doaj +1 more source
FEBS Open Bio, EarlyView.RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz +6 more
wiley +1 more source
Directed evolution of enzymes at the crossroads of tradition and innovation
FEBS Open Bio, EarlyView.An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova +2 more
wiley +1 more source
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia
Annals of Clinical and Translational NeurologyObjective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly.
Mahboubeh Ahmadipour +6 more
doaj +1 more source
FEBS Open Bio, EarlyView.TisIBP8, a fungal‐derived hyperactive ice‐binding protein, helps Caenorhabditis elegans survive dehydration. It localizes near cell membranes, reduces cell damage, and helps maintain membrane structure during drying. These results suggest that ice‐binding proteins can protect cells from dehydration stress as well as freezing stress.
Daiki Shimose +9 more
wiley +1 more source
Frontiers in Rehabilitation SciencesGerstmann–Sträussler–Scheinker syndrome (GSS) is a genetic, autosomal dominant prion brain disease that causes ataxia and slow cognitive decline. Herein, we describe a 34-year-old woman (S.C.B.) diagnosed with GSS (variant Pro102Leu).
A. De Laurenzis +7 more
doaj +1 more source
FEBS Open Bio, EarlyView.Lactoferrin promotes wound healing by activating MAPK, PI3K/Akt, and extracellular matrix pathways, enhancing fibroblast remodeling, proliferation, and re‐epithelialization. These mechanisms highlight its therapeutic potential in inflammation control, tissue repair, and remodeling.
Morgana Lüdtke Azevedo +4 more
wiley +1 more source