Limb–girdle muscular dystrophy

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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

Cardiac Niche Influences the Direct Reprogramming of Canine Fibroblasts into Cardiomyocyte-Like Cells

Marco Cassano

The Duchenne and Becker muscular dystrophies are caused by mutation of dystrophin gene and primarily affect skeletal and cardiac muscles. Cardiac involvement in dystrophic GRMD dogs has been demonstrated by electrocardiographic studies with the onset of a ...

Hindawi Limited2016

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

Myogenic potential of canine craniofacial satellite cells

Marco Cassano

The skeletal fibers have different embryological origin; the extraocular and jaw-closer muscles develop from prechordal mesoderm while the limb and trunk muscles from somites. These different origins characterize also the adult muscle stem cells, known as ...

Frontiers Research Foundation2014

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

Gait Assessment in Duchenne Muscular Dystrophy Children during Long-Distance Walking

Kamiar Aminian, Anisoara Ionescu, Raluca Lidia Ganea

The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability we ...

2012

Ncor1 is a physiological modulator of muscle mass and oxidative function

Johan Auwerx, Laurent Mouchiroud, Hiroyasu Yamamoto

The present invention provides methods of increasing muscle mass and muscle miochodrial oxidative metabolism. Additionally, the invention provides treating various disorders associated with mitochondrial dysfunction, including but not limited to metabolic ...

2012

Pattern Dystrophy With High Intrafamilial Variability Associated With Y141C Mutation In The Peripherin/Rds Gene And Successful Treatment Of Subfoveal Cnv Related To Multifocal Pattern Type With Anti-Vegf (Ranibizumab) Intravitreal Injections

Objective: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroid ...

Lippincott Williams & Wilkins2012

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

A hybrid BCI based on the fusion of EEG and EMG activities

José del Rocio Millán Ruiz, Ricardo Andres Chavarriaga Lozano, Robert Leeb, Hesam Sagha

Hybrid Brain-Computer Interfaces (BCI) are representing a recent approach to develop practical BCIs. In such a system disabled users are able to use all their remaining functionalities as control possibilities in parallel with the BCI. Sometimes these peop ...

Institute of Physics2011

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Pattern Dystrophy With High Intrafamilial Variability Associated With Y141C Mutation In The Peripherin/Rds Gene And Successful Treatment Of Subfoveal Cnv Related To Multifocal Pattern Type With Anti-Vegf (Ranibizumab) Intravitreal Injections

Lippincott Williams & Wilkins2012