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Concept

Dystrophie musculaire

Publications associées (32)

Cyclo His-Pro Attenuates Muscle Degeneration in Murine Myopathy Models

Johan Auwerx, Xiaoxu Li, Tanes Imamura de Lima, Alessia De Masi, Keno Strotjohann

Among the inherited myopathies, a group of muscular disorders characterized by structural and metabolic impairments in skeletal muscle, Duchenne muscular dystrophy (DMD) stands out for its devastating progression. DMD pathogenesis is driven by the progress ...

Wiley2024

Characterization of Cyclo His-Pro for the prevention and treatment of liver disease and muscular dystrophy

Alessia De Masi

The natural compound Cyclo Histidine-Proline (CHP) was initially discovered in the brain, but thereafter evaluated in the context of diabetes because of its hypoglycemic action. The pharmacokinetics and the toxicological profile of CHP showed it can be dos ...

EPFL2023

Assessment of idiopathic inflammatory myopathy using a deep learning method for muscle T2 mapping segmentation

Qian Wang, Tobias Kober, Tom Hilbert

Objective To investigate the utility of an automatic deep learning (DL) method for segmentation of T2 maps in patients with idiopathic inflammatory myopathy (IIM) against healthy controls, and also the association of quantitative T2 values in patients with ...

SPRINGER2022

Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy

Johan Auwerx, Hao Li, Davide D'Amico, Pénélope Andreux, Tanes Imamura de Lima, Pirkka-Pekka Untamo Laurila, Martin Rainer Wohlwend, Peiling Luan

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, and despite advances in genetic and pharmacological disease-modifying treatments, its management remains a major challenge. Mitochondrial dysfunction contributes to DMD, yet the mecha ...

AMER ASSOC ADVANCEMENT SCIENCE2021

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Matteo Dal Peraro

BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin-5 for fusion of endoplasmic reticulum-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and the cis-Golgi. Here, we report three individuals, from two ...

WILEY2021

Metabolic rescue of muscle and muscle stem cells in muscle disease

Peiling Luan

Duchenne muscular dystrophy (DMD), caused by the mutation of dystrophin gene, is an X-linked disorder that affects 1 in 3500 males, leading to progressive muscle degeneration and eventually resulting in premature death. Increasing evidence indicates that D ...

EPFL2020

Hybrid Human-Machine Interface for Gait Decoding Through Bayesian Fusion of EEG and EMG Classifiers

Silvestro Micera, Fiorenzo Artoni, Luca Tonin

Despite the advances in the field of brain computer interfaces (BCI), the use of the sole electroencephalography (EEG) signal to control walking rehabilitation devices is currently not viable in clinical settings, due to its unreliability. Hybrid interface ...

2020

Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion

Marion Leleu, Flavia Marzetta, Ludovica Vanzan

Expanded CAG/CTG repeats underlie 13 neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington's disease (HD). Upon expansion, disease loci acquire heterochromatic characteristics, which may provoke changes to chromatin conformation ...

2020

The Transcription Factor Nfix Requires RhoA-ROCK1 Dependent Phagocytosis to Mediate Macrophage Skewing during Skeletal Muscle Regeneration

Giuliana Rossi

Macrophages (MPs) are immune cells which are crucial for tissue repair. In skeletal muscle regeneration, pro-inflammatory cells first infiltrate to promote myogenic cell proliferation, then they switch into an anti-inflammatory phenotype to sustain myogeni ...

2020

SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres

Joachim Lingner, Wareed Ahmed, Marianna Feretzaki, Verena Pfeiffer, Aleksandra Vancevska

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) has been implicated in X-chromosome inactivation, imprinting, and DNA damage repair, and mutations in SMCHD1 can cause facioscapulohumeral muscular dystrophy. More re ...

WILEY2020

Neuromuscular Controller Embedded in a Powered Ankle Exoskeleton: Effects on Gait, Clinical Features and Subjective Perspective of Incomplete Spinal Cord Injured Subjects

Auke Ijspeert, Florin Dzeladini

Powered exoskeletons are among the emerging technologies claiming to assist functional ambulation. The potential to adapt robotic assistance based on specific motor abilities of incomplete spinal cord injury (iSCI) subjects, is crucial to optimize Human-Ro ...

IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC2020

Wearable exoskeletons to support ambulation in people with neuromuscular diseases, design rules and control

Amalric Louis Ortlieb

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 ...

EPFL2019

Exoskeletons as Mechatronic Design Example

Hannes Bleuler, Mohamed Bouri, Solaiman Shokur, Jeremy Olivier, Jemina Fasola, Romain Pierre François Baud, Tristan Hubert Vouga, Amalric Louis Ortlieb

Exoskeletons are a perfect example of a mechatronics product. They illustrate the close integration and interdependence of mechanical design, drive train, sensors, control strategy and user interface. Recent developments of our lab will be discussed in det ...

SPRINGER INTERNATIONAL PUBLISHING AG2019

The role of somatosensory feedback for brain-machine interfaces applications

Tiffany Corbet

Brain-machine interfaces (BMI) based on motor imagery (MI) have emerged as a promising approach to enhance motor skills and restore motor functions. However, the efficacy and efficiency of BMI systems remain limited. The current lack of usability can be ex ...

EPFL2019

Bioengineering the Human Muscle Stem-Cell Niche for Therapeutic Applications

Omid Mashinchian

In spite of decades of research, no feasible method for obtaining sufficient numbers of uncommitted muscle stem cells (MuSCs) for therapy of degenerative muscle diseases exists. One of the most fundamental problems associated with stem cell therapy of musc ...

EPFL2019

Autologous Cell Therapy Approach for Duchenne Muscular Dystrophy using PiggyBac Transposons and Mesoangioblasts

Nicolas Mermod

Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease currently without cure. We investigated the use of the PiggyBac transposon for full-length dystrophin expression in murine mesoangioblast (MABs) progenitor cells. DMD murine MABs were tra ...

CELL PRESS2018

Novice Shooters With Lower Pre-shooting Alpha Power Have Better Performance During Competition in a Virtual Reality Scenario

José del Rocio Millán Ruiz, Michael Eric Anthony Pereira

Competition changes the environment for athletes. The difficulty of training for such stressful events can lead to the well-known effect of “choking” under pressure, which prevents athletes from performing at their best level. To study the effect of compet ...

Frontiers Media2018

Sensory threshold neuromuscular electrical stimulation fosters motor imagery performance

José del Rocio Millán Ruiz, Serafeim Perdikis, Inaki Asier Iturrate Gil, Michael Eric Anthony Pereira, Tiffany Corbet

Motor imagery (MI) has been largely studied as a way to enhance motor learning and to restore motor functions. Although it is agreed that users should emphasize kinesthetic imagery during MI, recordings of MI brain patterns are not sufficiently reliable fo ...

2018

Restoring Motor Functions After Stroke: Multiple Approaches and Opportunities

Friedhelm Christoph Hummel, Estelle Emeline Raffin

More than 1.5 million people suffer a stroke in Europe per year and more than 70% of stroke survivors experience limited functional recovery of their upper limb, resulting in diminished quality of life. Therefore, interventions to address upper-limb impair ...

2018

AUTONOMYO: Design Challenges of Lower Limb Assistive Device for Elderly People, Multiple Sclerosis and Neuromuscular Diseases

Hannes Bleuler, Mohamed Bouri, Amalric Louis Ortlieb

Lower limb wearable robotics also known as exoskeleton or power suit is a booming field of research. Potential medical applications cover a large range of gait disorders from rehabilitation to assistance in daily mobility. Surprisingly, or not, paraplegia ...

Springer Int Publishing Ag2017