CRX-linked macular dystrophy with intrafamilial variable expressivity

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Publications associées (28)

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Imen Habibi

Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pig ...

2021

Photovoltaic stimulation of retinal microcircuit for vision restoration

Naïg Aurelia Ludmilla Chenais

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

Interferon Lambda Delays the Emergence of Influenza Virus Resistance to Oseltamivir

Francesco Stellacci, Paulo Henrique Jacob Silva, Chiara Medaglia

Influenza viruses are a leading cause of morbidity and mortality worldwide. These air-borne pathogens are able to cross the species barrier, leading to regular seasonal epidemics and sporadic pandemics. Influenza viruses also possess a high genetic variabi ...

2021

How do visual skills relate to action video game performance?

Michael Herzog, Aline Françoise Cretenoud, Arthur Barakat, Oh-Hyeon Choung

It has been claimed that video gamers possess increased perceptual and cognitive skills compared to non-video gamers. Here, we examined to which extent gaming performance in CS:GO (Counter-Strike: Global Offensive) correlates with visual performance.We tes ...

2021

The role and transcriptional regulation of FAM46A in adipocyte differentiation

Ann-Kristin Hov

Obesity is currently a leading global health concern. Treatments include undergoing a weight-loss regimen. However, successful weight-loss is variable, where the heritability of obesity is considered part of the cause. This patient variability to weight-lo ...

EPFL2021

Photovoltaic retinal prosthesis restores high-resolution responses to single-pixel stimulation in blind retinas

Naïg Aurelia Ludmilla Chenais, Marta Jole Ildelfonsa Airaghi Leccardi, Diego Ghezzi

Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...

2021

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

Maria del Carmen Sandi Perez, Cristina Ramona Cudalbu, Jocelin Grosse, Dunja Simicic

Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifi ...

Nature Research2021

The genetic architecture of complex human traits at the dawn of genomic medicine

Olivier Noël Marie Naret

The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine. The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...

EPFL2021

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