Ontology highlight
ABSTRACT:
SUBMITTER: Chabanon A
PROVIDER: S-EPMC6062049 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Chabanon Aurélie A Seferian Andreea Mihaela AM Daron Aurore A Péréon Yann Y Cances Claude C Vuillerot Carole C De Waele Liesbeth L Cuisset Jean-Marie JM Laugel Vincent V Schara Ulrike U Gidaro Teresa T Gilabert Stéphanie S Hogrel Jean-Yves JY Baudin Pierre-Yves PY Carlier Pierre P Fournier Emmanuel E Lowes Linda Pax LP Hellbach Nicole N Seabrook Timothy T Toledano Elie E Annoussamy Mélanie M Servais Laurent L
PloS one 20180726 7
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical trea ...[more]