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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Bjarne Udd, Giulio Piluso et al.|Acta Neuropathologica|2021Cited by 26
An unusual ryanodine receptor 1 (RYR1) phenotypeManu Jokela, Bjarne Udd, Giorgio Tasca et al.|Neurology|2019Cited by 21
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrumMaria Francesca Di Feo, Bjarne Udd, Victoria Lillback et al.|Journal of Medical Genetics|2023Cited by 15
Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessMarco Savarese, Bjarne Udd, Anna Vihola et al.|Neurology Genetics|2021Cited by 12