The FINmaj mutation in TTN induces the loss of several protein domains from titin C-terminusAnna Vihola, Bjarne Udd, Karine Charton et al.|Neuromuscular Disorders|2015Cited by 0
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, Anthony Peduto et al.|Neuromuscular Disorders|2017Cited by 0
Unexpected gene expression findings in the titinopathy mouse model FINmaj-KI using RNA-SeqPer Harald Jonson, Bjarne Udd, Ralf Krahe et al.|Neuromuscular Disorders|2017Cited by 0