| RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns TK Doktor, Y Hua, HS Andersen, S Brøner, YH Liu, A Wieckowska, ... Nucleic acids research 45 (1), 395-416, 2017 | 108 | 2017 |
| An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency S Mosegaard, GH Bruun, KF Flyvbjerg, YT Bliksrud, N Gregersen, ... Molecular Genetics and Metabolism 122 (4), 182-188, 2017 | 46 | 2017 |
| Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo E Cipollini, M Riccio, R Di Giaimo, F Dal Piaz, G Pulice, S Catania, ... Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1783 (2), 312-322, 2008 | 44 | 2008 |
| The Role of CAV3 in Long–QT Syndrome: Clinical and Functional Assessment of a Caveolin-3/Kv11.1 Double Heterozygote Versus Caveolin-3 Single Heterozygote PL Hedley, JK Kanters, M Dembic, T Jespersen, L Skibsbye, FH Aidt, ... Circulation: Cardiovascular Genetics 6 (5), 452-461, 2013 | 37 | 2013 |
| 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 B Palhais, M Dembic, R Sabaratnam, KS Nielsen, TK Doktor, GH Bruun, ... Molecular genetics and metabolism 119 (3), 258-269, 2016 | 33 | 2016 |
| Cell-specific expression of the epm1 (cystatin B) gene in developing rat cerebellum M Riccio, S Santi, M Dembic, R Di Giaimo, E Cipollini, ... Neurobiology of disease 20 (1), 104-114, 2005 | 29 | 2005 |
| Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’splice site A Martínez-Pizarro, M Dembic, B Pérez, BS Andresen, LR Desviat PLoS genetics 14 (4), e1007360, 2018 | 25 | 2018 |
| Multifluorescence labeling and colocalization analyses M Riccio, M Dembic, C Cinti, S Santi Cell Cycle Control and Dysregulation Protocols: Cyclins, Cyclin-Dependent …, 2004 | 22 | 2004 |
| Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease M Dembic, HS Andersen, J Bastin, TK Doktor, TJ Corydon, JO Sass, ... Molecular Genetics and Metabolism 126 (1), 64-76, 2019 | 18 | 2019 |
| Establishment and characterization of murine small cell lung carcinoma cell lines derived from HPV-16 E6/E7 transgenic mice L Carraresi, R Martinelli, A Vannoni, M Riccio, M Dembic, S Tripodi, ... Cancer letters 231 (1), 65-73, 2006 | 17 | 2006 |
| Combined gating and trafficking defect in Kv11. 1 manifests as a malignant long QT syndrome phenotype in a large Danish p. F29L founder family JK Kanters, L Skibsbye, PL Hedley, M Dembic, B Liang, CM Hagen, ... Scandinavian journal of clinical and laboratory investigation 75 (8), 699-709, 2015 | 9 | 2015 |
| Pregnancy-associated plasma protein-A (PAPP-A) and the proform of the eosinophil major basic protein (ProMBP) are associated with increased risk of death in heart failure patients M Dembic, PL Hedley, C Torp-Pedersen, L Køber, M Christiansen Scandinavian Journal of Clinical and Laboratory Investigation 77 (5), 352-357, 2017 | 8 | 2017 |
| Down-regulation of CK2α leads to up-regulation of the cyclin-dependent kinase inhibitor p27KIP1 in conditions unfavorable for the growth of myoblast cells B Guerra, M Dembic, MA Siddiqui, I Dominguez, P Ceppi, BS Andresen Cellular Physiology and Biochemistry 54 (6), 1177-1198, 2020 | 3 | 2020 |
| The role of CAV3 in long QT: clinical and functional assessment of a caveolin-3/Kc11. 1 compound heterozygote PL Hedley, JK Kanters, M Dembic, T Jesperson, L Skibsbye, FH Aidt, ... American Heart Association, 2013 | 3 | 2013 |
| Sindrom dugog QT intervala—uzrok iznenadne smrti. M Dembić, S Brusich, PL Hedley, CP De Villiers, Z Čubranić, JK Kanters, ... Cardiologia Croatica 7 (11-12), 263-275, 2012 | 3 | 2012 |
| Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip M Dembic, L van Brakel Andersen, MJ Larsen, I Mechlenburg, K Søballe, ... Molecular Genetics and Genomics 298 (2), 329-342, 2023 | 2 | 2023 |
| Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen T Aaquist, M Dembic, M Thomassen, K de Stricker, M Bertelsen, ... Pathology-Research and Practice 226, 153590, 2021 | 2 | 2021 |
| Novel arrhythmia-related mutations in Croatian arrhythmia patients M Dembić, S Brusich, P Hedley, AL Carlsen, TT Pham, L Zaputović, ... EHRA EUROPACE 2013-The Meeting of the European Heart Rhythm Association …, 2013 | 2 | 2013 |
| Alternative Functions for Cystatin B implicated by its interaction with Proteins other than Prote R Di Giaimo, E Cipollini, M Riccio, S Santi, M Hoque, M Dembic, ... Human Stefins and Cystatins, Nova Science Publishers, 43-59, 2006 | 2 | 2006 |
| Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia USS Petersen, M Dembic, A Martínez-Pizarro, E Richard, LL Holm, ... Molecular Therapy-Nucleic Acids 35 (1), 2024 | 1 | 2024 |
