Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
M Georgiou, AG Robson, K Fujinami… - Progress in retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …
population and children. The scope of this review is to familiarise clinicians and scientists …
[HTML][HTML] Non-vasogenic cystoid maculopathies
A Gaudric, I Audo, C Vignal, A Couturier… - Progress in Retinal and …, 2022 - Elsevier
Besides cystoid macular edema due to a blood-retinal barrier breakdown, another type of
macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be …
macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be …
Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607
Tau and Aβ assemblies of Alzheimer's disease (AD) can be visualized in living subjects
using positron emission tomography (PET). Tau assemblies comprise paired helical and …
using positron emission tomography (PET). Tau assemblies comprise paired helical and …
Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease
Genes encoding cell-surface proteins control nervous system development and are
implicated in neurological disorders. These genes produce alternative mRNA isoforms …
implicated in neurological disorders. These genes produce alternative mRNA isoforms …
[HTML][HTML] CRB1-associated retinal dystrophies: genetics, clinical characteristics, and natural history
MD Varela, M Georgiou, Y Alswaiti, J Kabbani… - American Journal of …, 2023 - Elsevier
PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …
[HTML][HTML] CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials
M Talib, MJ van Schooneveld, J Wijnholds… - American Journal of …, 2022 - Elsevier
PURPOSE To investigate the natural disease course of retinal dystrophies associated with
crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future …
crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future …
Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights
X Jiang, OA Mahroo - Eye, 2021 - nature.com
The dark-adapted human electroretinogram (ERG) response to a standard bright flash
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …
Retinogenesis of the human fetal retina: an apical polarity perspective
PMJ Quinn, J Wijnholds - Genes, 2019 - mdpi.com
The Crumbs complex has prominent roles in the control of apical cell polarity, in the coupling
of cell density sensing to downstream cell signaling pathways, and in regulating junctional …
of cell density sensing to downstream cell signaling pathways, and in regulating junctional …
[HTML][HTML] Retinal imaging in inherited retinal diseases
M Georgiou, K Fujinami, M Michaelides - Annals of eye science, 2020 - ncbi.nlm.nih.gov
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population. The advances in ocular genetics, retinal imaging and molecular biology, have …
population. The advances in ocular genetics, retinal imaging and molecular biology, have …
CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function
The mammalian apical-basal determinant Crumbs homolog-1 (CRB1) plays a crucial role in
retinal structure and function by the maintenance of adherens junctions between …
retinal structure and function by the maintenance of adherens junctions between …