Concept

Dystrophie facio-scapulo-humérale

Publications associées (40)

Cyclo His-Pro Attenuates Muscle Degeneration in Murine Myopathy Models

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

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

Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy

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

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

All-Polymer Printed Low-Cost Regenerative Nerve Cuff Electrodes

Silvestro Micera

Neural regeneration after lesions is still limited by several factors and new technologies are developed to address this issue. Here, we present and test in animal models a new regenerative nerve cuff electrode (RnCE). It is based on a novel low-cost fabri ...

FRONTIERS MEDIA SA2021

Smart Armband with Graphene Textile Electrodes for EMG-based Muscle Fatigue Monitoring

Ata Jedari Golparvar

We report the successful acquisition of surface electromyography (sEMG) signals from an intelligent armband and its application in localized muscle fatigue monitoring with a costume-designed, small-scale front-end readout circuitry. The correlation coeffic ...

IEEE2021

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

Matteo Dal Peraro, Mykola Dergai, Ying Hu

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

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

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

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

Silvestro Micera, Fiorenzo Artoni, Luca Tonin, Stefano Tortora

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

Muscle co-contraction in an upper limb musculoskeletal model: EMG-assisted vs. standard load-sharing

Dominique Pioletti, Alexandre Terrier, Alain Farron, Philippe Müllhaupt, Ehsan Sarshari, Matteo Mancuso

Estimation of muscle forces in over-actuated musculoskeletal models involves optimal distributions of net joint moments among muscles by a standard load-sharing scheme (SLS). Given that co-contractions of antagonistic muscles are counterproductive in the n ...

TAYLOR & FRANCIS LTD2020

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

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