1. A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome
   Yu-Wen Cheng et al, 2023, International Journal of Molecular Sciences CrossRef
2. Genetic and Cell-Mediated Therapies for Duchenne Muscular Dystrophy
   Jacopo Baglieri et al, 2015, Translating Gene Therapy to the Clinic CrossRef
3. Ataluren treatment of patients with nonsense mutation dystrophinopathy
   Katharine Bushby et al, 2014, Muscle & Nerve CrossRef
4. Readthrough-Promoting Drugs Gentamicin and PTC124 Fail to Rescue Na v 1.5 Function of Human-Induced Pluripotent Stem Cell–Derived Cardiomyocytes Carrying Nonsense Mutations in the Sodium Channel Gene SCN5A
   Georgios Kosmidis et al, 2016, Circulation: Arrhythmia and Electrophysiology CrossRef
5. New trends in the use of aminoglycosides
   Marina Y. Fosso et al, 2014, MedChemComm CrossRef
6. Synergy between Readthrough and Nonsense Mediated Decay Inhibition in a Murine Model of Cystic Fibrosis Nonsense Mutations
   Daniel R. McHugh et al, 2020, International Journal of Molecular Sciences CrossRef
7. Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes
   Florian Bolze et al, 2017, Scientific Reports CrossRef
8. Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
   Sylwia Michorowska, 2021, Pharmaceuticals CrossRef
9. Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes
   Valentino Bezzerri et al, 2020, International Journal of Molecular Sciences CrossRef
10. Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1
    Martin H. Ruwald et al, 2016, Heart Rhythm CrossRef
11. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives
    Valentino Bezzerri et al, 2019, Molecular Diagnosis & Therapy CrossRef
12. Nonsense suppression therapies in human genetic diseases
    Patrícia Martins-Dias et al, 2021, Cellular and Molecular Life Sciences CrossRef
13. The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis
    Emma J. Brasell et al, 2019, PLOS ONE CrossRef
14. A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124
    Chia-Chi Chen et al, 2023, Biomedicines CrossRef
15. Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
    Nele Schwarz et al, 2015, Human Molecular Genetics CrossRef
16. Absence of p.R50X Pygm read-through in McArdle disease cellular models
    Guillermo Tarrasó et al, 2019, Disease Models & Mechanisms CrossRef
17. PTC124 Rescues Nonsense Mutation of Two Tumor Suppressor Genes NOTCH1 and FAT1 to Repress HNSCC Cell Proliferation
    Ming-Han Wu et al, 2022, Biomedicines CrossRef
18. Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease
    Hui Wang et al, 2019, Frontiers in Genetics CrossRef
19. Ataluren‐driven restoration of Shwachman‐Bodian‐Diamond syndrome protein function in Shwachman‐Diamond syndrome bone marrow cells
    Valentino Bezzerri et al, 2018, American Journal of Hematology CrossRef
20. Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene
    Haiyun Yu et al, 2019, International Journal of Molecular Medicine CrossRef