Maja Dembić

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Thomas Koed Doktor, Yimin Hua, Henriette S. Andersen et al. · Nucleic Acids Research · 2016 · 107 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg et al. · Molecular Genetics and Metabolism · 2017 · 58 citations

Life Sciences, Genetics, Molecular Genetics +11

The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

Bruno Palhais, Maja Dembić, Rugivan Sabaratnam et al. · Molecular Genetics and Metabolism · 2016 · 50 citations

Life Sciences, Genetics, Molecular Genetics +17

Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo

Elena Cipollini, Massimo Riccio, Rossella Di Giaimo et al. · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · 2007 · 35 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +2

The Role of <i>CAV3</i> in Long–QT Syndrome

Paula L. Hedley, Jørgen K. Kanters, Maja Dembić et al. · Circulation Cardiovascular Genetics · 2013 · 31 citations · Full text

Medicine, Cardiology, Genetics +14