Marla Weetall

PTC124 targets genetic disorders caused by nonsense mutations

Ellen Welch, Elisabeth R. Barton, Jin Zhuo et al. · Nature · 2007 · 1.1K citations

Mendelian Disorder, Genetic Disorder, Genetics +4

<i>SMN2</i> splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Nikolai A. Naryshkin, Marla Weetall, Amal Dakka et al. · Science · 2014 · 517 citations

Genetics, Molecular Biology, Therapeutics +21

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( <i>SMN2</i> ) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

Hasane Ratni, Martin Ebeling, John D. Baird et al. · Journal of Medicinal Chemistry · 2018 · 492 citations · Full text

Risdiplam distributes and increases <scp>SMN</scp> protein in both the central nervous system and peripheral organs

Agnès Poirier, Marla Weetall, Katja Heinig et al. · Pharmacology Research & Perspectives · 2018 · 160 citations · Full text

Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA

Lingling Kong, David Valdivia, Christian M. Simon et al. · Science Translational Medicine · 2021 · 121 citations · Full text