Concept
Maladie de Charcot-Marie-Tooth
Publications associées (16)
Comprehensive proteomic analysis of JC polyomavirus-infected human astrocytes and their extracellular vesicles
Alexey Sapozhnik, Samuel Jones
JC polyomavirus (JCPyV) is an opportunistic virus that remains in a latent state in the kidneys and lymphoid organs of more than half of the human adult population. In rare cases of severe immune suppression, the virus is able to establish a lytic infectio ...
Washington2023Deep learning-based analysis of multiple sclerosis lesions with high and ultra-high field MRI
Multiple sclerosis (MS) is the most common demyelinating disease of the central nervous system and affects almost 3 million people worldwide. There is currently no cure for MS, and its symptoms, starting with fatigue and weakness, often progress over time ...
EPFL2022The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic evidence in mouse and Drosophila models suggests a gain-of ...
AMER ASSOC ADVANCEMENT SCIENCE2021Spinal V1 neurons inhibit motor targets locally and sensory targets distally
Rostro-caudal coordination of spinal motor output is essential for locomotion. Most spinal interneurons project axons longitudinally to govern locomotor output, yet their connectivity along this axis remains unclear. In this study, we use larval zebrafish ...
CELL PRESS2021Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelate ...
2021Wearable exoskeletons to support ambulation in people with neuromuscular diseases, design rules and control
Neuromuscular diseases are degenerative and, thus far, incurable disorders that lead to large muscle wasting. They result in constant deterioration of activities of daily living and in particular of ambulation. Some common types include Duchenne muscular d ...
EPFL2019Electromyographic indices of muscle fatigue of a severely paralyzed chronic stroke patient undergoing upper limb motor rehabilitation
Modern approaches to motor rehabilitation of severe upper limb paralysis in chronic stroke decode movements from electromyography for controlling rehabilitation orthoses. Muscle fatigue is a phenomenon that influences these neurophysiological signals and m ...
IEEE2019Influence of an Assistive Hip Orthosis on Gait
Hannes Bleuler, Mohamed Bouri, Jeremy Olivier, Amalric Louis Ortlieb
Powered orthoses are leading to an imminent change in the field of assistance. The major challenges faced by the technology concern the management of the interaction between the user and the wearable device and the coordination between the user intention a ...
Springer International Publishing Ag2017Mechanisms for actuated assistive hip orthoses
Hannes Bleuler, Mohamed Bouri, Jeremy Olivier, Amalric Louis Ortlieb
Mobility is often a central problem for people having muscle weaknesses. The need for new devices to assist walking and walk related activities is therefore growing. Lower limb actuated orthoses have already proven their positive impact with paraplegic pat ...
Elsevier2014