Concept

Intellectual disability

Related publications (74)

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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

Human-machine interface for two-dimensional steering control with the auricular muscles

Silvestro Micera, Solaiman Shokur, Daniel Jose Lins Leal Pinheiro

Human-machine interfaces (HMIs) can be used to decode a user's motor intention to control an external device. People that suffer from motor disabilities, such as spinal cord injury, can benefit from the uses of these interfaces. While many solutions can be ...

FRONTIERS MEDIA SA2023

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

"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

Previous studies suggest that structural alteration of the corpus callosum, i.e., the largest white matter commissural pathway, occurs after a preterm birth in the neonatal period and lasts across development. The present study aims to unravel corpus callo ...

ELSEVIER SCI LTD2023

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The theory underlying robust distributed learning algorithms, designed to resist adversarial machines, matches empirical observations when data is homogeneous. Under data heterogeneity however, which is the norm in practical scenarios, established lower bo ...

2023

Nerve injuries cause permanent neurological disability due to limited axonal regeneration. Injury-dependent and-independent mechanisms have provided important insight into neuronal regeneration, however, common denominators underpinning regeneration remain ...

Cambridge2023

Context Long-term adherence to physical activity (PA) interventions is challenging. The Lifestyle-integrated Functional Exercise programmes were adapted Lifestyle-integrated Functional Exercise (aLiFE) to include more challenging activities and a behaviour ...

BMJ PUBLISHING GROUP2022

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