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

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...

P. Colella, F. Puzzo, M. Biferi, D. Bali, N. Paulk, P. Vidal, F. Collaud, M. Simon-Sola, S. Charles, R. Hardet, C. Leborgne, P. Sellier, L. van Wittenberghe, F. Boisgerault, M. Barkats, P. Laforêt, M. Kay, D. Koeberl, G. Ronzitti, F. Mingozzi September 11, 2017

Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme acid a-glucosidase (GAA), which result in the pathological accumulation of glycogen in all tissues. Enzyme replacement therapy (ERT) is available for Pompe disease, however it has limited efficacy, high immunogenicity, and fails to correct nervous tissue and muscle groups refractory to cross-correction.… Read More...

G. Tasca, M. Pescatori, M. Monforte, A. Garofalo, A. Carissimo, M. Mutarelli, V. Nigro, E. Ricci September 11, 2017

A major role of DUX4 inappropriate transcription has been implicated in the pathophysiology of Facioscapulohumeral muscular dystrophy (FSHD). However, DUX4 itself is elusive and its detection particularly tricky in human samples. Therefore, correlation between DUX4 inappropriate expression and human pathology is still not completely elucidated.… Read More...

P. Vidal, G. Ronzitti, F. Collaud, M. Simon Sola, P. Collela, F. Puzzo, H. Costa Verdera, S. Charles, A. Vignaud, L. Van Wittenberghe, B. Gjata, M. Gjorgjieva, P. Laforêt, F. Rajas, E. Malfatti, G. Comi, F. Mingozzi September 11, 2017

Glycogen storage disease type III (GSDIII) is a recessive disorder due to mutations in the glycogen debranching enzyme (GDE), the enzyme involved in the linearization of cytosolic glycogen. The lack of GDE leads to glycogen accumulation in all tissues. During childhood, GSDIII is mainly a metabolic disease characterized by hepatomegaly and fasting hypoglycemia.… Read More...

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