Publications related to Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

Related publications (28)

Probing and modulating inter-areal coupling in the cortical visual motion processing pathway with non-invasive brain stimulation

In the last few years, stroke ranked as the second most common cause of death and is the third most significant condition affecting disability-adjusted life years (DALYs) worldwide. Being the most prevalent and quality of life impacting post-stroke symptom ...

EPFL2024

Weak correlations between visual abilities in healthy older adults, despite long-term performance stability

Michael Herzog, Simona Adele Garobbio

Using batteries of visual tests, most studies have found that there are only weak correlations between the performance levels of the tests. Factor analysis has confirmed these results. This means that a participant excelling in one test may rank low in ano ...

2024

Comparison of Three Viral Nucleic Acid Preamplification Pipelines for Sewage Viral Metagenomics

Tamar Kohn, Xavier Fernandez Cassi

Viral metagenomics is a useful tool for detecting multiple human viruses in urban sewage. However, more refined protocols are required for its effective use in disease surveillance. In this study, we investigated the performance of three different preampli ...

2024

Multi-well plate lid for single-step pooling of 96 samples for high-throughput barcode-based sequencing

Dariia Gudkova, Bart Deplancke, Daniel Migliozzi, Riccardo Dainese, Hüseyin Baris Atakan, Daniel Alpern, Mustafa Demir

High-throughput transcriptomics is of increasing fundamental biological and clinical interest. The generation of molecular data from large collections of samples, such as biobanks and drug libraries, is boosting the development of new biomarkers and treatm ...

Springer2024

Decoding electroencephalographic responses to visual stimuli compatible with electrical stimulation

Silvestro Micera, Laura Toni, Fiorenzo Artoni, Simone Romeni

Electrical stimulation of the visual nervous system could improve the quality of life of patients affected by acquired blindness by restoring some visual sensations, but requires careful optimization of stimulation parameters to produce useful perceptions. ...

Aip Publishing2024

Benchmarking informatics approaches for virus discovery: caution is needed when combining in silico identification methods

Jaspreet Singh Saini

Understanding the ecological impacts of viruses on natural and engineered ecosystems relies on the accurate identification of viral sequences from community sequencing data. To maximize viral recovery from metagenomes, researchers frequently combine viral ...

Amer Soc Microbiology2024

Predicting Visual Stimuli From Cortical Response Recorded With Wide-Field Imaging in a Mouse

Silvestro Micera

Neural decoding of the visual system is a subject of research interest, both to understand how the visual system works and to be able to use this knowledge in areas, such as computer vision or brain-computer interfaces. Spike-based decoding is often used, ...

Ieee-Inst Electrical Electronics Engineers Inc2024

SVGC-AVA: 360-Degree Video Saliency Prediction With Spherical Vector-Based Graph Convolution and Audio-Visual Attention

Pascal Frossard

Viewers of 360-degree videos are provided with both visual modality to characterize their surrounding views and audio modality to indicate the sound direction. Though both modalities are important for saliency prediction, little work has been done by joint ...

Ieee-Inst Electrical Electronics Engineers Inc2024

Evaluating contrast sensitivity in early and intermediate age-related Macular Degeneration with the Quick Contrast Sensitivity Function

Michael Herzog, Simona Adele Garobbio

Purpose: The purpose of this study was to describe, validate, and compare the contrast sensitivity functions (CSFs) acquired with the novel quick CSF (qCSF) method from patients with early and intermediate age-related macular degeneration (eAMD and iAMD) a ...

2023

The role of the visual field size in artificial vision

Diego Ghezzi

Objective. Artificial vision has been and still is the subject of intense research. The ultimate goal is to help blind people in their daily life. Approaches to artificial vision, including visual prostheses and optogenetics, have strongly focused on resto ...

IOP Publishing Ltd2023

Optimised set of oligonucleotides for bulk rna barcoding and sequencing

Bart Deplancke, Vincent Roland Julien Gardeux, Riccardo Dainese, Daniel Alpern

The present invention relates generally to the field of nucleic acid sequencing and provides oligonucleotide molecules and barcodes contained therein. These oligonucleotide molecules and barcodes molecules are useful in sequencing to identify and resolve e ...

2023

Modeling Visual Impairments with Artificial Neural Networks: a Review

Martin Schrimpf

We present an approach to bridge the gap between the computational models of human vision and the clinical practice on visual impairments (VI). In a nutshell, we propose to connect advances in neuroscience and machine learning to study the impact of VI on ...

Ieee Computer Soc2023

Systematic benchmarking of single-cell ATAC-sequencing protocols

Bart Deplancke, Jörn Pezoldt, Camille Lucie Germaine Lambert

Benchmarking of scATAC-seq protocols demonstrates the effects of data quality on downstream analyses. ...

NATURE PORTFOLIO2023

Convolutional neural network classifies visual stimuli from cortical response recorded with wide-field imaging in mice

Silvestro Micera

Objective. The optic nerve is a good location for a visual neuroprosthesis. It can be targeted when a subject cannot receive a retinal prosthesis and it is less invasive than a cortical implant. The effectiveness of an electrical neuroprosthesis depends on ...

IOP Publishing Ltd2023

Serial dependence in visual perception: A review

David Pascucci, Gizay Ceylan, Ayberk Ozkirli

How does the visual system represent continuity in the constantly changing visual input? A recent proposal is that vision is serially dependent: Stimuli seen a moment ago influence what we perceive in the present. In line with this, recent frameworks sugge ...

Association for Research in Vision and Ophthalmology (ARVO)2023

Single fraction and hypofractionated radiosurgery for perioptic meningiomas-tumor control and visual outcomes: a systematic review and meta-analysis

Constantin Tuleasca

Perioptic meningiomas, defined as those that are less than 3 mm from the optic apparatus, are challenging to treat with stereotactic radiosurgery (SRS). Tumor control must be weighed against the risk of radiation-induced optic neuropathy (RION), as both tu ...

Springer2023

Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E

Jacques Fellay, Ali Saadat Varnosfaderanii

Background and Aims:The clinical spectrum of human infection by HEV ranges from asymptomatic to severe acute hepatitis. Furthermore, HEV can cause diverse neurological manifestations, especially Parsonage-Turner syndrome. Here, we used a large-scale human ...

Lippincott Williams & Wilkins2023

Investigating the Serotonergic Modulation of Orientation Tuning of Neurons in Primary Visual Cortex of Anesthetized Mice

Parviz Ghaderi

Introduction: Sensory processing is profoundly regulated by brain neuromodulatory systems. One of the main neuromodulators is serotonin which influences higher cognitive functions, such as different aspects of perceptual processing. Accordingly, malfunctio ...

Iran Univ Medical Sciences2023

Electronic readout of DNA amplification in nanoliter chambers. Strategies towards highly parallel semiconductor-based nucleic acid amplification testing

Saurabh Tomar

Polymerase chain reaction (PCR) has been the most significant driver in the field of nucleic acid testing (NAT) since its invention. Popularized as an abbreviation by the Covid-19 pandemic, PCR-based methods are the gold standard in the field of diagnostic ...

EPFL2023

Multiomic analysis of HER2-enriched and AR-positive breast carcinoma with apocrine differentiation and an oligometastatic course: a case report

Andrea Cavalli

Breast carcinoma is the most prevalent cancer among women globally. It has variable clinical courses depending on the stage and clinical-biological features. This case report describes a 56-year-old female with invasive breast cancer without estrogen or pr ...

FRONTIERS MEDIA SA2023