Concept

Neuromuscular disease

Related publications (33)

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

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

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 ...

BMC2021

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

Deep learning for the rapid automatic quantification and characterization of rotator cuff muscle degeneration from shoulder CT datasets

Alexandre Terrier, Alain Farron, Elham Taghizadeh, Philippe Büchler

Objectives This study aimed at developing a convolutional neural network (CNN) able to automatically quantify and characterize the level of degeneration of rotator cuff (RC) muscles from shoulder CT images including muscle atrophy and fatty infiltration. M ...

SPRINGER2020

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

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

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