F. Muntoni, J. Domingos, A. Manzur, A. Mayhew, M. Guglieri, J. Signorovitch, S. Ward September 10, 2017

Functional variability among boys with Duchenne muscular dystrophy (DMD) is well recognized and complicates the interpretation of clinical studies. To further understanding, we assessed whether boys with DMD could be clustered into groups sharing similar trajectories of ambulatory function over time, as measured by the North Star Ambulatory Assessment (NSAA) total score, and then explored associations with other factors.… Read More...

M. Neri, C. Scotton, R. Selvatici, F. Gualandi, B. Wirth, L. Schols, T. Klockgether, H. Lochmüller, F. Muntoni, A. D'Amico, E. Bertini, M. Pane, E. Mercuri, A. Ferlini September 10, 2017

The heterogeneous genetic landscape of NMDs raises challenges regarding the definition of a molecular diagnosis, now becoming mandatory for the inclusion in emerging therapeutic trials. To improve the diagnostic definition in our NMDs patients we used a next generation sequencing approach: clinical gene panel analysis for the screening of known genes, WES (whole exome sequencing) and WGS (whole genome sequencing) analysis aimed at the identification of novel causative genes.… Read More...

K. Nagaraju, J. Boehler, A. Horn, J. Novak, S. Ghimbovschi, I. Lundberg, J. Jaiswal September 10, 2017

Currently, the cause of myositis is unknown, but disease onset sometime has been associated with exposure to environmental agents such as viral infections. Although attempts to identify viruses in myositis skeletal muscle have failed, several studies have shown that a viral signature (e.g., Type 1 interferon) is present in myositis muscle.… Read More...

G. Walker, R. Butterfield, K. Mathews, L. Servais, J. Day, T. Gidaro, S. Shukla, L. Maggi September 10, 2017

FSHD is a genetic autosomal dominant muscular dystrophy that results in significant disability and is associated with an immune component. The early onset FSHD phenotype is characterized by more severe, rapidly progressive muscle involvement. ATYR1940 is a Physiocrine-based protein that is nearly identical to human histidyl-tRNA synthetase and has been shown in preclinical studies to modulate immune responses in skeletal muscle.… Read More...

M. Bencze, J. Meng, V. Pini, F. Conti, F. Muntoni, J. Morgan September 10, 2017

Efforts to treat Duchenne muscular dystrophy (DMD) mainly focus on strategies aimed at increasing dystrophin expression, or enhancing muscle regeneration/growth. However, the process of cell death in muscle wasting disorders has been largely overlooked. In DMD, fibres die with a necrotic morphology, making myonecrosis a central process in its pathogenesis.… Read More...

R. Scalco, R. Quinlivan, A. Lucia, A. Santalla, A. Martinuzzi, A. Toscano, O. Musumeci, B. San Milan, H. Durmus, N. Voermans, P. Laforêt, E. Kuhnle, M. Martin, G. Siciliano, S. Sacconi, X. Ortega, T. Pinos, R. Marti, J. Vissing September 10, 2017

EUROMAC was established to collect comprehensive data on GSDV and related glycogen storage diseases, with the goal to facilitate the characterization of the natural history of rare muscle glycogenoses, report on estimated prevalence and regional differences in phenotype/genotype, assist in the selection of suitable outcome measures, create a comprehensive cohort of patients with rare muscle glycogenoses, from which potentially participants in clinical trials can be recruited, and assist in developing standards of care for muscle glycogenoses.… Read More...

R. Boursereau, M. Abou-Samra, S. Lecompte, L. Noel, S. Brichard September 10, 2017

Assembly of the NLRP3 inflammasome leads to caspase-1 activation and mediates the cleaving and release of several inflammatory cytokines. The NLRP3 inflammasome can amplify inflammatory responses and thus worsen several diseases. Duchenne muscular dystrophy (DMD) is one of the most devastating muscle disease and it is known to harbour a severe inflammation.… Read More...

R. Shell, S. Al-Zaidy, W. Arnold, L. Rodino-Klapac, T. Prior, L. Lowes, L. Alfano, K. Berry, K. Church, J. Kissel, S. Nagendran, J. L'Italien, D. Sproule, C. Wells, A. Burghes, K. Foust, K. Meyer, S. Likhite, B. Kaspar, J. Mendell September 10, 2017

Spinal muscular atrophy Type 1 (SMA1) is devastating monogenic neurodegenerative disease characterized by lower motor neuron loss. Motor neuron loss results in severe swallowing and breathing dysfunction that, without nutritional and ventilatory support, leads to malnutrition, chronic aspiration, and ultimately death via respiratory failure.… Read More...

K. Patel, K. Alyodawi, S. Omairi, W. Vermeij, O. Kretz, F. Salagna, T. Huber September 10, 2017

A dominant principle underpinning our understanding of the ageing process is that DNA damage induces a stress response that shifts cellular resources from growth towards maintenance. A contrasting and seemingly irreconcilable view is that prompting growth of, for example skeletal muscle, results in systemic benefit.… Read More...

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