Publications associées à Maladie neuromusculaire

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

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy

Bernard Schneider

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the SMN1 gene and low SMN protein levels. Although lower motor neurons are a primary target, there is evidence that peripheral organ defects contribute to SMA. Current SMA gene ther ...

2022

Mechanistic Understanding of Neurobehavioral Effects of Insecticides on the Larvae of Zebrafish (Danio rerio)

Sarah-Katharina Könemann

Due to conservation of neuronal functioning across phyla, molecular targets of insecticides are similar in insects and vertebrates. Insecticides thus pose a risk to aquatic vertebrates, such as fish, and potentially cause neurotoxic effects. Although these ...

EPFL2022

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

Hilal Lashuel, Yang Liu

Background: There is increasing evidence that Parkinson's disease (PD) might start in the gut, thus involving and compromising also the enteric nervous system (ENS). At the clinical onset of the disease the majority of dopaminergic neurons in the midbrain ...

2021

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

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

An Event-Driven Closed-Loop System for Real-Time FES Control

Silvestro Micera, Andrea Crema, Danilo Demarchi

Active functional rehabilitation procedures, exoskeleton application and prosthesis employment are essential tools for the society life reinstatement of subjects affected by neuromuscular disorders or victims of serious physical accident. In this paper we ...

IEEE2019

Hybrid peripheral-spinal neuroprosthesis for refined motor execution after paralysis

Sophie Marie Marthe Wurth

Spinal cord injury (SCI) disrupts the communication between the brain and the spinal circuits responsible for movement, thereby causing severe motor deficits. Current strategies to restore function to paralyzed limbs have separately investigated electrical ...

EPFL2018

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

NAD(+) repletion improves muscle function in muscular dystrophy and counters global PARylation

Johan Auwerx, Carlos Canto Alvarez, Laurent Mouchiroud, Dongryeol Ryu, Xu Wang, Vincenzo Sorrentino, Hongbo Zhang, Keir Joe Menzies, Karim Laurent Gariani

Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of normal healthy mice, we observed correlations between the abundance of mRNA transcripts related to ...

Amer Assoc Advancement Science2016

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

MUNDUS project: MUltimodal Neuroprosthesis for daily Upper limb Support

Silvestro Micera, Andrea Crema, Claudia Casellato

Background: MUNDUS is an assistive framework for recovering direct interaction capability of severely motor impaired people based on arm reaching and hand functions. It aims at achieving personalization, modularity and maximization of the user's direct inv ...

BioMed Central2013

Effect of a pathological scapular tilt after total shoulder arthroplasty

Dominique Pioletti, Alexandre Terrier, Alain Farron

Total shoulder arthroplasty (TSA) is an accepted and most successfully used treatment for different shoulder pathologies. Different risk factors for the failure of the prosthesis are known. A pathological scapular orientation, observed in elderly people or ...

Taylor & Francis2013

Assessment of Body Motion and Muscle Weakness : Outcome Evaluation in Frail Elderly and DMD Subjects

Raluca Lidia Ganea

Muscle weakness is a common symptom in elderly population and in children with Duchenne muscular dystrophy (DMD), causing impaired mobility. DMD is a devastating degenerative disease caused by a mutation in the dystrophin gene, leading to the absence of th ...

EPFL2011

Gene-mediated Restoration of Normal Myofiber Elasticity in Dystrophic Muscles

Andrzej Kulik, Nicolas Mermod, Stefania Puttini, Damien Saugy

Dystrophin mediates a physical link between the cytoskeleton of muscle fibers and the extracellular matrix, and its absence leads to muscle degeneration and dystrophy. In this article, we show that the lack of dystrophin affects the elasticity of individua ...

2009

Playing Defense Against Lou Gehrig's Disease

Patrick Aebischer

The official name of the illness is amyotrophic lateral sclerosis (ALS), but in the U.S. it is better known as Lou Gehrig’s disease. The great New York Yankees first baseman was diagnosed with ALS in 1939 and died two years later from the progressive neuro ...

2007

GDNF secreting human neural progenitor cells protect dying motor neurons, but not their projection to muscle, in a rat model of familial ALS

Patrick Aebischer

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease characterized by rapid loss of muscle control and eventual paralysis due to the death of large motor neurons in the brain and spinal cord. Growth factors such ...

Public Library of Science2007