Selenoprotein Gene NomenclatureVadim N. Gladyshev, Susan Tweedie, Paul R. Copeland et al.|Journal of Biological Chemistry|2016Cited by 278
Titinopathies – Establishment of an international database of TTN mutations and their phenotypesPeter Hackman, Bjarne Udd, Marco Savarese et al.|Neuromuscular Disorders|2016Cited by 1
Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?Emily C. Oates, Nigel G. Laing, Kyle S. Yau et al.|Neuromuscular Disorders|2017Cited by 1
Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvementEmily C. Oates, Nigel G. Laing, Kyle S. Yau et al.|Neuromuscular Disorders|2016Cited by 0
Clinical characterisation of a large international congenital titinopathy cohortEmily C. Oates, Nigel G. Laing, Kyle S. Yau et al.|Neuromuscular Disorders|2017Cited by 0