Concept

Handicap

Publications associées (62)

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

A mirror therapy system using virtual reality and an actuated exoskeleton for the recovery of hand motor impairments: a study of acceptability, usability, and embodiment

Luca Randazzo, Antonio Paolillo

Hand motor impairments are one of the main causes of disabilities worldwide. Rehabilitation procedures like mirror therapy are given crucial importance. In the traditional setup, the patient moves the healthy hand in front of a mirror; the view of the mirr ...

Berlin2023

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Nicolas Jean Philippe Guex

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...

2023

Combination of Neurotechnologies Towards Personalized Neurorehabilitation for Stroke Patients

Claudia Bigoni

"Ensure healthy lives and promote well-being for all at all ages" is the third sustainable development goal for the United Nations Agenda of 2030. This doctoral thesis fully embodied this objective by targeting stroke, a leading cause of death and disabili ...

EPFL2023

Prediction of post-stroke motor recovery benefits from measures of sub-acute widespread network damages

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Elvira Pirondini, Cyprien Alban Félicien Rivier

Rivier et al. report that global measures of brain connectivity estimated by introducing virtual lesions in healthy structural connectomes significantly increase the accuracy of motor recovery prediction in stroke patients when added to focal and clinical ...

OXFORD UNIV PRESS2023

Understanding motor control and impairment: An upper-limb model for muscular assessment

Tristan Jean Robin Barjavel

The human upper limb is a complex musculoskeletal system that can still perform various tasks with impressive efficacy thanks to the ability of the central nervous system to control and modulate the activation of more than 40 muscles.Stroke is a leading ca ...

EPFL2023

Observed Kinetics of Enterovirus Inactivation by Disinfectants Differ among the Host Cells Used for Enumeration

Tamar Kohn, Shannon Christa David, Shotaro Torii, Odile Marie Clotilde Hervás de Nalda-Larivé, Federica Cariti

The virus inactivation efficacy of disinfectants is typically assessed by infectivity assay utilizing a single type of host cell. Enteroviruses infect multiple host cells via different entry routes, and each entry route may be impaired differently by a giv ...

2023

Wearable Robotics for Impaired Upper-Limb Assistance and Rehabilitation: State of the Art and Future Perspectives

Silvestro Micera

Despite more than thirty-five years of research on wearable technologies to assist the upper-limb and a multitude of promising preliminary results, the goal of restoring pre-impairment quality of life of people with physical disabilities has not been fully ...

IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC2022

Neurocognitive and motor-control challenges for the realization of bionic augmentation

Silvestro Micera

Robotic fingers and arms that augment the motor abilities of non-disabled individuals are increasingly feasible yet face neurocognitive barriers and hurdles in efferent motor control. ...

NATURE PORTFOLIO2022

Fractal analysis in the quantification of medical imaging associated with multiple sclerosis pathology

Maria-Alexandra Paun

Backgrounds: Multiple sclerosis (MS) is an inveterate phlogistic situation characterized by focal and vaguely diffusive de-myelination and neurodegeneration, in the sphere of central nervous system (CNS). The brain's chronic inflammatory reaction includes ...

IMR PRESS2022

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