Publications related to Facioscapulohumeral muscular dystrophy

Cyclo His-Pro Attenuates Muscle Degeneration in Murine Myopathy Models

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

Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy

Johan Auwerx, Pénélope Andreux, Davide D'Amico, Hao Li, Tanes Imamura de Lima, 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

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

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

Marion Leleu, Ludovica Vanzan, Flavia Marzetta, Ioannis Xenarios

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

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

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, Inaki Asier Iturrate Gil, Serafeim Perdikis, 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

DUX-family transcription factors regulate zygotic genome activation in placental mammals

Didier Trono, Andrea Coluccio, Evaristo Jose Planet Letschert, Julien Léonard Duc, Alberto De Iaco, Sonia Verp

In animal embryos, transcription is mostly silent for several cell divisions, until the release of the first major wave of embryonic transcripts through so-called zygotic genome activation (ZGA). Maternally provided ZGA-triggering factors have been identif ...

2017

Enhancers of notch signaling and their use in the treatment of cancers and malignancies medicable by upregulation of notch

Jieping Zhu, Viktoria Reinmüller

The present invention relates to the use for enhancing Notch signaling in an individual, of a compound showing the general formula (I) and/or a pharmaceutically acceptable salt or ester thereof, for the treatment of a disease selected from the group of der ...

2017

Multi-harmonic imaging in the second near-infrared window of nanoparticle-labeled stem cells as effective monitoring tool in tissue depth

Sandrine Gerber, Solène Marcelle Françoise Marie Passemard, Luigi Bonacina

In order to assess the therapeutic potential of cell-based strategies, it is of paramount importance to elaborate and validate new tools for monitoring the behavior of injected cells in terms of tissue dissemination and engraftment properties. Here, we app ...

American Chemical Society2017

Evaluation of the effects of the Arm Light Exoskeleton on movement execution and muscle activities: a pilot study on healthy subjects

Silvestro Micera, Elvira Pirondini, Martina Coscia, Massimo Bergamasco

Background: Exoskeletons for lower and upper extremities have been introduced in neurorehabilitation because they can guide the patient's limb following its anatomy, covering many degrees of freedom and most of its natural workspace, and allowing the contr ...

BioMed Central2016

Metabolic control of muscle and muscle stem cell function

Hongbo Zhang

Skeletal muscle composed of myofibers and a small amount of muscle stem cells (MuSCs). It plays important roles in energy metabolism. Some of the key metabolites, such as NAD+ and acetyl-CoA were recently found to regulate muscle and MuSCs function. Most o ...

EPFL2016

Muscle synergies and spinal maps are sensitive to the asymmetry induced by a unilateral stroke

Silvestro Micera, Martina Coscia

Background: Previous studies have shown that a cerebrovascular accident disrupts the coordinated control of leg muscles during locomotion inducing asymmetric gait patterns. However, the ability of muscle synergies and spinal maps to reflect the redistribut ...

BioMed Central2015

Assessing dystrophies and other muscle diseases at the nanometer scale by atomic force microscopy

Giovanni Dietler, Harald Brune, Andrzej Kulik, Nicolas Mermod, Guillaume Witz, Stefania Puttini

Aim: Atomic force microscopy nanoindentation of myofibers was used to assess and quantitatively diagnose muscular dystrophies from human patients. Materials & methods: Myofibers were probed from fresh or frozen muscle biopsies from human dystrophic patient ...

Future Medicine2014

Molecular and cell-based therapies for muscle degenerations: a road under construction

Marco Cassano, Stefania Crippa

Despite the advances achieved in understanding the molecular biology of muscle cells in the past decades, there is still need for effective treatments of muscular degeneration caused by muscular dystrophies and for counteracting the muscle wasting caused b ...

Frontiers Research Foundation2014