Results 51 to 60 of about 9,112 (206)

Retinal Structure inRPE65-Associated Retinal Dystrophy

Investigative Opthalmology & Visual Science, 2020
RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals.We performed cross-sectional and longitudinal quantitative and qualitative assessments of retinal architecture in RPE65-RD using spectral domain optical ...
Kumaran, Neruban, Georgiou, Michalis, Bainbridge, James W B, Bertelsen, Mette, Larsen, Michael, Blanco-Kelly, Fiona, Ayuso, Carmen, Tran, Hoai Viet, Munier, Francis L, Kalitzeos, Angelos, Michaelides, Michel   +10 more
openaire   +6 more sources

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Light-induced charge generation in polymeric nanoparticles restores vision in advanced-stage retinitis pigmentosa rats

Nature Communications, 2022
Retinal dystrophies such as Retinitis pigmentosa are among the most prevalent causes of inherited incurable legal blindness. Here the authors demonstrate that conjugated polymer nanoparticles reinstate visual functions in aged rats with fully degenerated
S. Francia, D. Shmal, S. Di Marco, G. Chiaravalli, J. F. Maya-Vetencourt, G. Mantero, C. Michetti, S. Cupini, G. Manfredi, M. L. DiFrancesco, A. Rocchi, S. Perotto, M. Attanasio, R. Sacco, S. Bisti, M. Mete, G. Pertile, G. Lanzani, E. Colombo, F. Benfenati   +19 more
doaj   +1 more source

The Evolution of Fabrication Methods in Human Retina Regeneration

Applied Sciences, 2021
Optic nerve and retinal diseases such as age-related macular degeneration and inherited retinal dystrophies (IRDs) often cause permanent sight loss. Currently, a limited number of retinal diseases can be treated.
Beatrice Belgio, Anna Paola Salvetti, Sara Mantero, Federica Boschetti   +3 more
doaj   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Inherited retinal dystrophies [PDF]

Paediatrics and Child Health, 2020
Abstract Inherited retinal dystrophies (IRD) are a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. Symptoms include loss of night vision, visual field, colour, and central acuity. Sophisticated imaging modalities and electrophysiology permit genotype–phenotype correlations.
openaire   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

Diagnostic Role of Chromatic Full-Field Stimulus Test in Rod–Cone Versus Cone Dystrophies

Biomedicines
Background: Inherited retinal dystrophies are a heterogeneous group of progressive disorders impacting photoreceptor function, often limiting the usefulness of standard electroretinography in advanced cases.
Aykut Demirkol, Esra Sahli, Baichun Hou, Promie R. Faruque, Ilay Demirkol, Kuzey Soydas, Stephen H. Tsang   +6 more
doaj   +1 more source