Results 81 to 90 of about 110,472 (262)
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant
Animal Models and Experimental Medicine, EarlyView.Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund +7 more
wiley +1 more source
Neural Regeneration ResearchOur previous study demonstrated that combined transplantation of bone marrow mesenchymal stem cells and retinal progenitor cells in rats has therapeutic effects on retinal degeneration that are superior to transplantation of retinal progenitor cells ...
Chunge Ren +12 more
doaj +1 more source
Voluntary running delays primary degeneration in rat retinas after partial optic nerve transection
Neural Regeneration Research, 2019 Running is believed to be beneficial for human health. Many studies have focused on the neuroprotective effects of voluntary running on animal models. There were both primary and secondary degeneration in neurodegenerative diseases, including glaucoma ...
Hong-Ying Li +3 more
doaj +1 more source
Gene Therapy for Retinal Degeneration
Ophthalmic Research, 2009 Inherited retinal degenerations are a group of diseases leading to blindness through progressive loss of vision in many patients. Although with the cloning of more and more disease genes the knowledge on the molecular genetics of these conditions and on the apoptotic pathway as the common disease mechanism is steadily increasing, there is still no cure
M B, Reichel +3 more
openaire +2 more sources
Predictors of Change in Severity of Self‐Injurious Behaviors in Preschool‐Aged Autistic Children
Autism Research, EarlyView.ABSTRACT Self‐injurious behaviors (SIBs) affect up to 50% of autistic individuals and significantly impact quality of life and everyday functioning. Cross‐sectional studies link the presence of SIB to lower IQ, altered sensory responsivity, and poor emotion regulation, yet their effect on changes in SIB severity from early childhood to school age in ...
Joseph Boyle +9 more
wiley +1 more source
Cost–benefit analysis of screening programme for diabetic retinopathy in Bulgaria
British Journal of Clinical Pharmacology, EarlyView.Aims Late‐diagnosed diabetic retinopathy (DR) is difficult and expensive to treat. Screening programmes can identify the disease early and reduce the costs of its future treatment. This study aims to analyse the cost–benefit of screening programmes for DR.
Iva Nenkova +5 more
wiley +1 more source
Neurovascular coupling in bone regeneration: Mechanisms, advanced biomaterials and challenges
BMEMat, EarlyView.This figure illustrates various material strategies for neurovascularized bone regeneration, including electroactive scaffolds, ion‐loaded materials, drug delivery systems, surface modifications, cells/cell products, growth factors, and peptides. These approaches aim to synergistically promote the regeneration of neural, vascular, and bone tissues ...
Yixin Ma +8 more
wiley +1 more source
Status and future of recombinant adeno‐associated virus vector manufacturing
Biotechnology Progress, EarlyView.Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley +1 more source