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- W3209894307 abstract "The aim of this paper is to provide a short history of spinal muscular atrophy, from the first descriptions of the disease to the impact of the most recent therapeutical advances on the disease course. The paper provides an overview of how the field has progressed over the years after the availability of care recommendations and, more recently of the new therapies. The paper also highlights the new challenges related to the interpretation of the efficacy of the new therapies and how these are likely to affect several aspects such as the classification of spinal muscular atrophy. We will also discuss the need for further work to better define possible new phenotypes and new methods of assessments and how these should be reflected in the care recommendations. The results in presymptomatic patients will finally highlight the need for neonatal screening." @default.
- W3209894307 created "2021-11-08" @default.
- W3209894307 creator A5042269980 @default.
- W3209894307 date "2021-10-01" @default.
- W3209894307 modified "2023-10-10" @default.
- W3209894307 title "Spinal muscular atrophy: from rags to riches" @default.
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- W3209894307 doi "https://doi.org/10.1016/j.nmd.2021.08.009" @default.
- W3209894307 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34736637" @default.
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