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28/03/2013 - Telethon 2012: 88,156,400 euros donated > Read

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Myology Research Highlights

The candidate drug RG3039 provides benefit in SMA animal models

Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene, and insufficient expression of full-length survival motor neuron (SMN) protein. Since SMA patients have ...
Improvements in neural and cardiorespiratory function following AAV9 administration in Pompe disease

Pompe disease is a neuromuscular disease resulting from deficiency in acid α-glucosidase (GAA), results in cardiac, skeletal muscle, and central nervous system (CNS) pathology. Enzyme replacement therapy (ERT) has been shown to partially correct car...
Two is better than one: A case of homozygous myotonic dystrophy type 1

Myotonic dystrophy type 1 is an autosomal dominant condition caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase gene. The phenotypic features of myopathic facies, generalized weakness, a...

Myology research highlights

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11/03/2013 - Post doctoral research fellow - Genethon - Evry, France > read

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21/02/2012 - Post doctoral research fellow - San Francisco, CA, USA > read

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27/06/2013PPMD connect conference 2013

01/07/2013MYASTHENIA 2013 International Conference (supported by the FIGHT-MG network and the French Association against Myopathies)

12/08/2013Society of Neuromuscular Sciences Incorporated 39th Annual Scientific Meeting

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