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Archive ouverte | Lawlor, Michael | CCSD

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Archive ouverte | Bello, Luca | CCSD

International audience. The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (Lo...

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Archive ouverte | Vogt, Sibylle | CCSD

International audience. BACKGROUND Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the treatment of spi...

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