Concept

Disability rights movement

Related publications (27)

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 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

Longitudinal evaluation of the mechanisms supporting post-stroke motor recovery using TMS-EEG coupling

Andéol Geoffroy Cadic-Melchior

Stroke is the main source of long-lasting disability, affecting dominantly motor functions. The extent and course of recovery are highly heterogeneous between patients, with a minority of patients fully recovering from their initial impairments, leaving 85 ...

EPFL2023

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

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 ...

2021

Tutorial: a computational framework for the design and optimization of peripheral neural interfaces

Silvestro Micera, Simone Romeni, Giacomo Valle

Peripheral neural interfaces have been successfully used in the recent past to restore sensory-motor functions in disabled subjects and for the neuromodulation of the autonomic nervous system. The optimization of these neural interfaces is crucial for ethi ...

NATURE RESEARCH2020

Lean synthesis and application to lower-limb exoskeletons

Tristan Hubert Vouga

Mobility impairments are the most prevalent of all disabilities, affecting the life of nearly one in 20 individuals in developed countries. In the most severe cases, they can have dramatic consequences for the social, mental and physical well-being of thos ...

EPFL2019

Neurotrophic-mimetic strategy to rescue synaptic plasticity and cognitive functions in a mouse model of Down syndrome

Diego Ghezzi

Down syndrome (DS) is caused by the triplication of human chromosome 21, and it is the most frequent genetic cause of cognitive disabilities. Although numerous studies have shown that cognitive impairment possibly arises from dysfunction of the hippocampal ...

2018

A New Look at Civic Design: Park Systems in America

Matthew Skjonsberg

A New Look at Civic Design reflects on the nature of the various crises facing the very idea of democracy today, explicitly in relation to climate change - namely mass extinctions, water scarcity and overabundance, and in general widespread and increasing ...

EPFL2018

EMG-Based Detection of User's Intentions for Human-Machine Shared Control of an Assistive Upper-Limb Exoskeleton

Silvestro Micera

To assist people with disabilities, exoskeletons must be provided with human-machine interfaces (HMI) capable to identify the user's intentions and enable cooperative interaction. Electromyographic (EMG) signals could be suitable for this purpose, but thei ...

Springer Int Publishing Ag2017

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