Associated Papers
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
Lombardi S et al.
International Journal of Molecular Sciences, 2020
Mucopolysaccharidosis Type I.
Kubaski F et al.
Diagnostics (basel, Switzerland), 2020
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clarke LA et al.
Clinical Genetics, 2019
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.
Keeling KM
Diseases (basel, Switzerland), 2016
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation.
Coletti HY et al.
Jimd Reports, 2015
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
Hein LK et al.
Journal of Molecular Biology, 2004
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Beesley CE et al.
Human Genetics, 2001
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