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Concept

Disability

Related publications (27)

Development and clinical validation of computational imaging biomarkers for neurodegenerative diseases

Veronica Lily Ravano

Neurodegenerative and neuroinflammatory disorders often involve complex pathophysiological mechanisms that are â to this date â only partially understood. A more comprehensive understanding of those microstructural processes and their characterization ...

EPFL2024

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 ...

Nature Portfolio2023

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

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

Early Neuroprotective Effects of Bovine Lactoferrin Associated with Hypothermia after Neonatal Brain Hypoxia-Ischemia in Rats

Yohan Van de Looij, Analina Raquel Hausin

Neonatal hypoxic-ischemic (HI) encephalopathy (HIE) in term newborns is a leading cause of mortality and chronic disability. Hypothermia (HT) is the only clinically available therapeutic intervention; however, its neuroprotective effects are limited. Lacto ...

MDPI2023

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 ...

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

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

Daily Contributors of Tinnitus Loudness and Distress: An Ecological Momentary Assessment Study

Patrick Karl Alois Neff

BackgroundTinnitus is a heterogeneous condition which may be associated with moderate to severe disability, but the reasons why only a subset of individuals is burdened by the condition are not fully clear. Ecological momentary assessment (EMA) allows a be ...

FRONTIERS MEDIA SA2022

Altered anterior default mode network dynamics in progressive multiple sclerosis

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Anjali Bagunu Tarun, Younes Farouj

Background: Modifications in brain function remain relatively unexplored in progressive multiple sclerosis (PMS), despite their potential to provide new insights into the pathophysiology of the disease at this stage. Objectives: To characterize the dynamic ...

SAGE PUBLICATIONS LTD2021

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

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2022

Advanced Neurotechnologies for the Restoration of Motor Function

Silvestro Micera, Friedhelm Christoph Hummel

Stroke is one of the leading causes of long-term disability. Advanced technological solutions ("neurotechnologies'') exploiting robotic systems and electrodes that stimulate the nervous system can increase the efficacy of stroke rehabilitation. Recent stud ...

2020

Real-world speed estimation using single trunk IMU: methodological challenges for impaired gait patterns

Kamiar Aminian, Anisoara Ionescu, Abolfazl Soltani

Walking speed (WS) is recognized as an important dimension of functional health and a candidate endpoint for clinical trials. To be adopted as a powerful outcome measure in clinical assessment, WS should be estimated pervasively and accurately in the real- ...

IEEE2020

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

Wearable technology in stroke rehabilitation: towards improved diagnosis and treatment of upper-limb motor impairment

Friedhelm Christoph Hummel, Traian Popa, Pablo Maceira Elvira, Anne-Christine Schmid

Stroke is one of the main causes of long-term disability worldwide, placing a large burden on individuals and society. Rehabilitation after stroke consists of an iterative process involving assessments and specialized training, aspects often constrained by ...

BioMed Central2019

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