J. Böhm, R. Schneider, E. Malfatti, V. Schartner, X. Lornage, I. Nelson, G. Bonne, B. Eymard, J. Nectoux, F. Leturcq, M. Bartoli, M. Krahn, S. Saker, I. Richard, A. Boland, J. Deleuze, V. Biancalana, J. Thompson, N. Romero, J. Laporte September 11, 2017

More than 200 different myopathies have been described but nearly half of patients are still devoid of a genetic diagnosis, suggesting the implication of so far unlinked genes and unforeseen clinical and genetic heterogeneity. In addition, through comparative analyses of published mutations and DNA variant databases, we highlighted 256 published mutations that are described as non disease-causing polymorphisms and several genes whose implication in the disease needs to be confirmed.… Read More...

J. Chamberlain, J. Ramos, K. Hollinger, J. Crudele, N. Bengtsson, S. Hauschka September 11, 2017

Gene therapy represents a promising approach to treat DMD as it has the potential to circumvent the primary cause of the disorder, a mutant gene. Gene replacement therapies have focused on methods to deliver expression cassettes encoding the dystrophin protein. Challenges to this approach have included the enormous size of the dystrophin gene (2.2 MB), its muscle mRNA (14 kb) and difficulties in safely delivering vectors to muscles bodywide.… Read More...

D. Ardicli, K. Nowak, G. Haliloglu, H. Goullee, M. Davis, B. Talim, N. Laing, H. Topaloğlu September 11, 2017

We investigated the utility of NGS diagnostics in a cohort of patients with neuromuscular disease from a single pediatric clinic. According to clinical and pathological features, 30 Turkish families were grouped as congenital myopathy, congenital myasthenic syndrome, congenital muscular dystrophy or unclassified.… Read More...

L. Gonzalez-Quereda, M. Rodriguez, A. Nascimento, C. Ortez, C. Jou, J. Milisenda, J. Diaz-Manera, I. Jerico, I. Tejada, P. Gallano September 11, 2017

Congenital neuromuscular diseases are early onset muscle disorders encompassing great clinical and genetic heterogeneity so that reaching and accurate genetic diagnosis is still a challenge. We aim to evaluate the diagnostic advantage of different NGS approaches in a cohort of congenital neuromuscular disorders and to validate an efficient and cost-effective diagnostic strategy to be incorporated to the National health system.… Read More...

A. Malerba, P. Klein, H. Bachtarzi, S. Jarmin, G. Cordova, A. Ferry, V. Strings, M. Polay Espinoza, K. Mamchaoui, S. Blumen, J. Lacau St Guily, V. Mouly, M. Graham, G. Butler-Browne, D. Suhy, C. Trollet, G. Dickson September 11, 2017

Oculopharyngeal muscular dystrophy (OPMD) is a rare late onset autosomal dominant muscular dystrophy affecting 1:100000 people in Europe. OPMD is due to mutation in polyA binding protein nuclear 1 (PABPN1) gene that presents an abnormal expansion of alanine-encoding GCG trinucleotide repeats.… Read More...

C. Giesige, K. Heller, L. Wallace, J. Domire, J. Eidahl, D. Mukweyi, S. Garwick-Coppens, S. Guckes, L. Rodino-Klapac, S. Harper September 11, 2017

Autosomal dominant Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies, estimated to affect as many as 1 in 8,333 individuals worldwide. FSHD was classified as a major form of muscular dystrophy in 1954, but the pathogenic events leading to the disease have only recently started coming into focus.… Read More...

M. Biferi, M. Cohen-Tannoudji, A. Cappelletto, B. Giroux, M. Roda, S. Astord, T. Marais, A. Ferry, T. Voit, M. Barkats September 11, 2017

Our research is devoted to the identification of efficient strategies to target the central nervous system (CNS) and to the development of novel therapies for motor neuron disorders. In particular, using the unique therapeutic potential of self-complementary adeno-associated virus (AAV) vectors, we recently elaborated a new gene therapy strategy for a genetic form of Amyotrophic Lateral Sclerosis (ALS), a lethal disease with limited therapeutic options.… Read More...

R. Bloch, A. Mueller, A. Llach, A. O'Neill, T. Jones, P. Sakellariou, G. Stadller, W. Wright, P. Jones September 11, 2017

Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common muscular dystrophies in man, with a prevalence of 1 in ~8,000 individuals worldwide. Studies of the pathogenic mechanisms underlying human myopathies and muscular dystrophies often require animal models, but a model that recapitulates the signature pathophysiology of FSHD is not yet available.… Read More...

Andoird App
Loading...