Publications related to Spinal muscular atrophy

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice

Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse model. ...

Oxford University Press2023

Targeted regeneration of spinal cord neurons across a complete injury restores walking

Marco Milano

Spinal cord injury (SCI) interrupts axonal connections between the brain and the spinal cord, and is characterized by a spectrum of sensorimotor and autonomic impairments. While spontaneous recovery is limited, recent studies have shown that functional imp ...

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

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

Bernard Schneider

Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow in Smn(2B/-) mice ...

2020

Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients

Brian Donal McCabe

SMA is a genetically determined motor system disorder that results in muscle weakness, selective motor neuron death, muscle atrophy, and impaired functional mobility. In SMA model systems, long-term treatment with 4-aminopyridine (4-AP) has been shown to i ...

PERGAMON-ELSEVIER SCIENCE LTD2020

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

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

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Bernard Schneider

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the surv ...

ELSEVIER SCIENCE BV2018

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

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models

Brian Donal McCabe

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the re ...

Academic Press Inc Elsevier Science2017

Significant Molecular and Systemic Adaptations after Repeated Sprint Training in Hypoxia

Jean-Marc Vesin, Grégoire Millet

While intermittent hypoxic training (IHT) has been reported to evoke cellular responses via hypoxia inducible factors (HIFs) but without substantial performance benefits in endurance athletes, we hypothesized that repeated sprint training in hypoxia could ...

Public Library of Science2013

Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6

Patrick Aebischer, Bernard Schneider, Christopher Towne

Retrograde transport of viral vectors in the rodent spinal cord provides a powerful means to administer a therapeutic transgene from the innervated musculature. With the aim of scaling up this approach to non-human primates, we have injected recombinant ad ...

2010

A subject-specific software solution for the modeling and the visualization of muscles deformations

Daniel Thalmann, Ronan Boulic, Anders Sandholm, Xavier Maurice

Today, to create and to simulate a virtual anatomical version of a subject is useful in the decision process of surgical treatments. The muscular activity is one of the factors which can contribute to abnormal movements such as in spasticity or static cont ...

Springer-Verlag2009

Evaluating the influence of induced passive torques in the simulation of time-varying human poses

Ronan Boulic

In the computerized generation of human poses, it is important to take into account not only the active component of the torque, but also the ligaments and connective tissues which produce a passive torque at the limits of the joint range of motion. We pre ...

2008

Human muscular fetal cells: a potential cell source for muscular therapies

Dominique Pioletti, Corinne Scaletta, Nathalie Hirt-Burri

Myoblast transfer therapy has been extensively studied for a wide range of clinical applications, such as tissue engineering for muscular loss, cardiac surgery or Duchenne Muscular Dystrophy treatment. However, this approach has been hindered by numerous l ...

2008