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Concept

Disabilities affecting intellectual abilities

Related publications (10)

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

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

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

Connectomics across development : towards mapping brain structure from birth to childhood

Elda Fischi Gomez

The brain is probably the most complex system of the human body, composed of numerous neural units interconnected at dierent scales. This highly structured architecture provides the ability to communicate, synthesize information and perform the analytical ...

EPFL2015

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

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