Publications related to Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients

Related publications (29)

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

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

Course Design - A Visual and Modular Approach

Marc Laperrouza

This book has been designed for instructors in higher education or adult training who wish to develop a new course or revise an existing one. It adopts a practical, visual, and modular approach based on the principle of constructive alignment. At its heart ...

EPFL Press2024

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

Clinically compliant cryopreservation of differentiated retinal pigment epithelial cells

Cheng Zhao, Gioele La Manno, Alex Russell Lederer

Background aims: Age-related macular degeneration (AMD) is the most common cause of blindness in elderly patients within developed countries, affecting more than 190 million worldwide. In AMD, the retinal pigment epithelial (RPE) cell layer progressively d ...

Elsevier Sci Ltd2024

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

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

Classification of patients with cardiac amyloidosis using machine learning models on Italian electronic clinical health records

Silvestro Micera

Amyloidosis refers to a range of medical conditions in which misshapen proteins accumulate in various organs and tissues, forming insoluble fibrils. Cardiac amyloidosis is frequently linked to the buildup of misfolded transthyretin (TTR) or immunoglobulin ...

IEEE2023

Rapid low-cost hyperspectral imaging system for quantitative assessment of infantile hemangioma

Viktor Vorobev

Hemangioma, the predominant benign tumor occurring in infancy, exhibits a wide range of prognoses and associated outcomes. The accurate determination of prognosis through noninvasive imaging modalities holds essential importance in enabling effective perso ...

Wiley-V C H Verlag Gmbh2023

Plasma biomarkers for Alzheimer's disease: a field-test in a memory clinic

Aurélien Lathuilière, Sara Stampacchia

Background The key Alzheimer's disease (AD) biomarkers are traditionally measured with techniques/exams that are either expensive (amyloid-positron emission tomography (PET) and tau-PET), invasive (cerebrospinal fluid A beta 42 and p-tau 181), or poorly sp ...

BMJ PUBLISHING GROUP2023

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Xiaoxu Li

Long-term consumption of lipid-rich foods can contribute to common metabolic diseases and systemic low-grade inflammation. However, dietary responses and the development of non-communicable diseases are shaped by genetic factors and gene-by-environment int ...

EPFL2023

The full-body illusion changes visual depth perception

Olaf Blanke, Bruno Herbelin, Sophie Jacqueline Andrée Betka

Knowing where objects are relative to us implies knowing where we are relative to the external world. Here, we investigated whether space perception can be influenced by an experimentally induced change in perceived self-location. To dissociate real and ap ...

Nature Research2023

Targeting the Progesterone Receptor in Breast Cancer: Mind the Short Form!

Cathrin Brisken, Carlos Henrique Venturi Ronchi

The presurgical window of opportunity trial (WOT) MIPRA provides evidence that neoadjuvant treatment with the prog-esterone receptor (PR) antagonist mifepristone (RU486) may benefit patients with estrogen receptor-positive (ER+) breast cancer characterized ...

AMER ASSOC CANCER RESEARCH2023

Environment-dependent epistasis increases phenotypic diversity in gene regulatory networks

Florence Gauye, Florian Baier

Mutations to gene regulatory networks can be maladaptive or a source of evolutionary novelty. Epistasis con-founds our understanding of how mutations affect the expression patterns of gene regulatory networks, a chal-lenge exacerbated by the dependence of ...

AMER ASSOC ADVANCEMENT SCIENCE2023

Miniaturised, Wireless and Distributed Neural Interface Toward Cortical Visual Prosthesis

Gian Luca Barbruni

Over the last decades, implantable neural interfaces have been extensively explored and effectively deployed to address neurological and mental health disorders. The existing solutions present several limitations. Firstly, the physical size of the implanta ...

EPFL2023

Wide-scale identification of novel/eliminated genes responsible for evolutionary transformations

Daria Korotkova

BackgroundIt is generally accepted that most evolutionary transformations at the phenotype level are associated either with rearrangements of genomic regulatory elements, which control the activity of gene networks, or with changes in the amino acid conten ...

2023

Monitoring of Protein and pH Levels in Human Biofluids using FD-SOI Silicon Nanowire Arrays

Luca Capua

Medical research and technological advancements are heading towards tailored healthcare approaches that prioritize individual needs, allowing for more accurate diagnoses, more effective treatments, and better patient outcomes overall. One such approach is ...

EPFL2023

Medical and Personal Characteristics Can Predict the Risk of Lung Metastasis

Michele De Palma, Nahal Mansouri

Aims: Understanding the correlations between underlying medical and personal characteristics of a patient with cancer and the risk of lung metastasis may improve clinical management and outcomes. We used machine learning methodologies to predict the risk o ...

2023

Fabrication and validation of an intraneural interface tailored for optic nerve stimulation

Eleonora Borda

Technological progress in materials science and microengineering along with new discoveries in neuroscience have contributed to restore lost or impaired sensory functions by closely interfacing with the nervous system. Electronic devices have begun to be i ...

EPFL2022

No Common Factor Underlying Decline of Visual Abilities in Mild Cognitive Impairment

Michael Herzog, Simona Adele Garobbio

Introduction Recent work has shown an association between cognitive and visual impairments and two main theories were advanced, namely the sensory deprivation and the common cause theories. Most studies considered only basic visual functions such as visual ...

2023