Concept

Spinal muscular atrophy

Related publications (22)

Significant Molecular and Systemic Adaptations after Repeated Sprint Training in Hypoxia

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

Optogenetic control of live skeletal muscles: Non-invasive, wireless, and precise activation of muscle tissues

Mahmut Selman Sakar

Optogenetics is an emerging new technology for controlling live cell function with light. Skeletal muscles are genetically coded to express light-sensitive proteins so that the cell's behavior may be altered by illuminating a targeted portion of the cell. ...

IEEE2013

Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron

Veronica Setola

The axonal survival of motor neuron (a-SMN) protein is a truncated isoform of SMN1, the spinal muscular atrophy (SMA) disease gene. a-SMN is selectively localized in axons and endowed with remarkable axonogenic properties. At present, the role of a-SMN in ...

Wiley-Blackwell2012

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

Diagnosis of muscular dystrophies at the nanometer scale

Andrzej Kulik, Thibault Adrien Kuntzer, Stefania Puttini

The diagnosis of muscular dystrophies or the assessment of the functional benefit of gene or cell therapies can be difficult, especially for poorly accessible muscles, and it often lacks a single-fiber resolution. In the present study, we evaluated whether ...

World Muscular Society / Elsevier2009

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Didier Trono, Isabelle Barde, Sonia Verp

In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. The nearly identical SMN2 gene has a silent mutation that impairs the utilization of exon 7 and the pro ...

Oxford University Press2008

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

Real-Time Measurement of the Contribution of the Muscular- Activity to the Metabolic-Rate in Freely Moving Rats

Kamiar Aminian, Philippe Robert

A new real-time ergometric system, ERGORAT, for measuring the energy expenditure due to muscular activity of small mammals is described. The method is based on measuring the vibrations induced by a freely moving rat to a platform on which it is living. Six ...

1993

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