Publications associées à novel PIKFYVE mutation in fleck corneal dystrophy

Publications associées (11)

Optimised three-dimensional in vitro retinoblastoma models tailored for drug discovery and clinical translatability

Retinoblastoma, while relatively rare, stands as the most prevalent intraocular cancer. In Switzerland, the survival rate approaches 100%, but it drops to less than 50% in low-income countries. The current treatment options for retinoblastoma rely on a lim ...

EPFL2023

EGG Objective characterization of cybersickness symptoms towards navigation axis

Khalil Haroun Achache, Ali Raed Ben Mustapha, Ronan Boulic, Nana Tian

The current study sought to objectively evaluate cybersickness by utilizing Electrogastrogram (EGG) physiological data in relation to three different navigation axes: Translational movement along the longitudinal and lateral axes, and rotation along the ve ...

IEEE2023

Lessons on brain edema in HE: from cellular to animal models and clinical studies

Cristina Ramona Cudalbu Moldovan, Katarzyna Pierzchala, Jessie Julie Mosso

Brain edema is considered as a common feature associated with hepatic encephalopathy (HE). However, its central role as cause or consequence of HE and its implication in the development of the neurological alterations linked to HE are still under debate. I ...

SPRINGER/PLENUM PUBLISHERS2023

Sense of agency for intracortical brain-machine interfaces

Olaf Blanke, Andrea Serino, Nathan Quentin Faivre, Marco Solcà, Pavo Orepic, Tommaso Enrico Bertoni

Intracortical brain-machine interfaces decode motor commands from neural signals and translate them into actions, enabling movement for paralysed individuals. The subjective sense of agency associated with actions generated via intracortical brain-machine ...

NATURE PORTFOLIO2022

Neuroprosthetic Technologies to Evaluate and Train Leg Motor Control in Neurologically Impaired Individuals

Camille Georgette Marie Le Goff-Mignardot

Spinal cord injury (SCI) disrupts many essential sensorimotor and autonomic functions. Consequently, individuals with SCI can face decades with permanent disabilities. Advances in clinical management have decreased morbidity, but no clinical trial has yet ...

EPFL2019

Engineering growth factors for regenerative medicine applications

Jeffrey Alan Hubbell, Priscilla Suhasna Maithili Briquez

Growth factors are important morphogenetic proteins that instruct cell behavior and guide tissue repair and renewal. Although their therapeutic potential holds great promise in regenerative medicine applications, translation of growth factors into clinical ...

Elsevier Sci Ltd2016

Word pair classification during imagined speech using direct brain recordings

José del Rocio Millán Ruiz, Inaki Asier Iturrate Gil, Stéphanie Martin

People that cannot communicate due to neurological disorders would benefit from an internal speech decoder. Here, we showed the ability to classify individual words during imagined speech from electrocorticographic signals. In a word imagery task, we used ...

Nature Research2016

Lack of Enantioselectivity in the SULT1A3-catalyzed Sulfoconjugation of Normetanephrine Enantiomers: An In Vitro and Computational Study

Sandrine Gerber, Jean-Baptiste Gualtierotti

(1R)-Normetanephrine is the natural stereoisomeric substrate for sulfotransferase 1A3 (SULT1A3)-catalyzed sulfonation. Nothing appears known on the enantioselectivity of the reaction despite its potential significance in the metabolism of adrenergic amines ...

Wiley-Blackwell2013

Role of the renin-angiotensin system on abdominal aortic aneurysms

Nikolaos Stergiopoulos, Bram Trachet

BackgroundAbdominal aortic aneurysm (AAA) is a complex degenerative disease, which leads to morbidity and mortality in a large portion of the elderly population. Current treatment options for AAA are quite limited as there is no proven indication for pharm ...

Wiley-Blackwell2013

Notch Signaling In Solid Tumors

Freddy Radtke, Ute Koch

In recent years a substantial body of evidence derived from not only preclinical but also clinical studies has accumulated in support of Notch signaling playing important oncogenic roles in several types of cancer. The finding that activating Notch mutatio ...

2010

Biomechanical analysis of cerebral arteries : role of elastin and its implication in aging and cerebrovascular disease

The intent of this thesis is to study the function of elastin in cerebral arteries, its contribution into the aging process and its implication into different cerebral diseases and in particular cerebral aneurysms. As of today, little is known on the genes ...

EPFL2008