The role of SOX family members in solid tumours and metastasis D Grimm, J Bauer, P Wise, M Krüger, U Simonsen, M Wehland, ... Seminars in cancer biology 67, 122-153, 2020 | 367 | 2020 |
Clear correlation of genotype with disease phenotype in very–long-chain Acyl-CoA dehydrogenase deficiency BS Andresen, S Olpin, BJHM Poorthuis, HR Scholte, C Vianey-Saban, ... The American Journal of Human Genetics 64 (2), 479-494, 1999 | 353 | 1999 |
Protein misfolding and degradation in genetic diseases P Bross, TJ Corydon, BS Andresen, MM Jørgensen, L Bolund, ... Human mutation 14 (3), 186-198, 1999 | 317 | 1999 |
Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition LB Ramsey, GH Bruun, W Yang, LR Treviño, S Vattathil, P Scheet, ... Genome research 22 (1), 1-8, 2012 | 304 | 2012 |
The impact of microgravity on bone in humans D Grimm, J Grosse, M Wehland, V Mann, JE Reseland, A Sundaresan, ... Bone 87, 44-56, 2016 | 275 | 2016 |
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl‐CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship N Gregersen, BS Andresen, MJ Corydon, TJ Corydon, RKJ Olsen, ... Human mutation 18 (3), 169-189, 2001 | 231 | 2001 |
Mitochondrial fatty acid oxidation defects—remaining challenges N Gregersen, BS Andresen, CB Pedersen, RKJ Olsen, TJ Corydon, ... Journal of inherited metabolic disease 31 (5), 643-657, 2008 | 168 | 2008 |
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a … KB Nielsen, S Sørensen, L Cartegni, TJ Corydon, TK Doktor, ... The American Journal of Human Genetics 80 (3), 416-432, 2007 | 156 | 2007 |
Update on the keratoconus genetics K Nielsen, J Hjortdal, M Pihlmann, TJ Corydon Acta Ophthalmologica 91 (2), 106-113, 2013 | 143 | 2013 |
Identification of Four New Mutations in the Short-Chain Acyl-CoA Dehydrogenase (SCAD) Gene in Two Patients: One of the Variant Alleles, 511C→T, is Present at … N Gregersen, VS Winter, MJ Corydon, TJ Corydon, P Rinaldo, A Ribes, ... Human molecular genetics 7 (4), 619-627, 1998 | 141 | 1998 |
Alterations of the cytoskeleton in human cells in space proved by life-cell imaging TJ Corydon, S Kopp, M Wehland, M Braun, A Schütte, T Mayer, T Hülsing, ... Scientific reports 6 (1), 20043, 2016 | 135 | 2016 |
Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial β-oxidation of unsaturated fatty acids R Ensenauer, M He, JM Willard, ES Goetzman, TJ Corydon, BB Vandahl, ... Journal of biological chemistry 280 (37), 32309-32316, 2005 | 129 | 2005 |
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to … CB Pedersen, S Kølvraa, A Kølvraa, V Stenbroen, M Kjeldsen, ... Human genetics 124, 43-56, 2008 | 123 | 2008 |
The Hsp60-(p. V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo P Bross, S Naundrup, J Hansen, MN Nielsen, JH Christensen, ... Journal of Biological Chemistry 283 (23), 15694-15700, 2008 | 115 | 2008 |
Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder JE Severinsen, CR Bjarkam, S Kiar-Larsen, IM Olsen, MM Nielsen, ... Molecular psychiatry 11 (12), 1126-1138, 2006 | 111 | 2006 |
Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice JH Christensen, MN Nielsen, J Hansen, A Füchtbauer, EM Füchtbauer, ... Cell Stress and Chaperones 15 (6), 851-863, 2010 | 109 | 2010 |
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13) J Hansen, TJ Corydon, J Palmfeldt, A Dürr, B Fontaine, MN Nielsen, ... Neuroscience 153 (2), 474-482, 2008 | 105 | 2008 |
Influence of polymorphic OATP1B-type carriers on the disposition of docetaxel AJM de Graan, CS Lancaster, A Obaidat, B Hagenbuch, L Elens, ... Clinical Cancer Research 18 (16), 4433-4440, 2012 | 100 | 2012 |
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency N Cornelius, FE Frerman, TJ Corydon, J Palmfeldt, P Bross, N Gregersen, ... Human molecular genetics 21 (15), 3435-3448, 2012 | 100 | 2012 |
Misfolding, degradation, and aggregation of variant proteins: the molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency CB Pedersen, P Bross, VS Winter, TJ Corydon, L Bolund, K Bartlett, ... Journal of Biological Chemistry 278 (48), 47449-47458, 2003 | 100 | 2003 |