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Concept

Droits du handicap (mouvement)

Publications associées (15)

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 Moldovan, Dunja Simicic, Jocelin Grosse, Hirotaka Yamada

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

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

Systemic evaluation of actions toward developing practical broadband applications for elderly and people with disabilities

The paper reports results of a structured democratic dialogue Co-Laboratory that aimed to explore actions that could alleviate obstacles preventing the development of practical broadband applications for elderly people and people with disabilities. Thirty- ...

Springer Verlag2017

Changes in Heart Rate Variability Recorded in Natural Situation with T-Shirt Integrated Sensors and Level of Observed Behavioral Excitation: A Pilot Study of Patients with Intellectual Disabilities and Psychiatric Disorders

Michel Akselrod

Background: The present study investigates the possibilities of using heart rate variability (HRV) parameters as physiological markers that precede increase in observed behavioral excitation of intellectually disabled individuals. The ability to recognize ...

Frontiers Media Sa2017

Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16

PCTAIRE-1 [also known as cyclin-dependent kinase 16 (CDK16)] is implicated in various physiological processes such as neurite outgrowth and vesicle trafficking; however, its molecular regulation and downstream targets are largely unknown. Cyclin Y has rece ...

Portland Press Ltd2015

Lifestyle Evaluation Using Wearable Technologies: Opportunities for Stroke Patients

Kamiar Aminian, Anisoara Ionescu, Fabien Massé

Stroke is the leading cause of disabilities in the western world and may cause severe motor impairments. In the current clinical practice, progress during physical rehabilitation is assessed by a therapist for specific motor functions and through questionn ...

Springer2013

Alcohol consumption, alcohol dependence, and related mortality in Italy in 2004: effects of treatment-based interventions on alcohol dependence

Background: The tradition of consuming alcohol has long been a part of Italian culture and is responsible for a large health burden. This burden may be reduced with effective interventions, one of the more important of which is treatment for Alcohol Depend ...

Biomed Central Ltd2013

Assessment of Body Motion and Muscle Weakness : Outcome Evaluation in Frail Elderly and DMD Subjects

Raluca Lidia Ganea

Muscle weakness is a common symptom in elderly population and in children with Duchenne muscular dystrophy (DMD), causing impaired mobility. DMD is a devastating degenerative disease caused by a mutation in the dystrophin gene, leading to the absence of th ...

EPFL2011

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Nouchine Hadjikhani, Fei Chen

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. This mutation is a ...

2011

An efficient P300-based brain-computer interface for disabled subjects

Touradj Ebrahimi, Jean-Marc Vesin, Ulrich Hoffmann

A brain-computer interface (BCI) is a communication system that translates brain-activity into commands for a computer or other devices. In other words, a BCI allows users to act on their environment by using only brain-activity, without using peripheral n ...

2008

Building Robota, a Mini-Humanoid Robot for the Rehabilitation of Children with Autism

Aude Billard

The Robota project constructs a series of multiple degrees of freedom doll-shaped humanoid robots, whose physical features resemble those of a human baby. The Robota robots have been applied as assistive technologies in behavioral studies with low-function ...

2007