Menkes disease Z Tümer, LB Møller European Journal of Human Genetics 18 (5), 511-518, 2010 | 422 | 2010 |
Crystal structure of a copper-transporting PIB-type ATPase P Gourdon, XY Liu, T Skjørringe, JP Morth, LB Møller, BP Pedersen, ... Nature 475 (7354), 59-64, 2011 | 365 | 2011 |
Mannose 6-phosphate/insulin-like growth factor–II receptor targets the urokinase receptor to lysosomes via a novel binding interaction A Nykjær, EI Christensen, H Vorum, H Hager, CM Petersen, H Røigaard, ... The Journal of cell biology 141 (3), 815-828, 1998 | 177 | 1998 |
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD FH Hansen, T Skjørringe, S Yasmeen, NV Arends, MA Sahai, K Erreger, ... The Journal of clinical investigation 124 (7), 3107-3120, 2014 | 155 | 2014 |
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome LB Møller, Z Tümer, C Lund, C Petersen, T Cole, R Hanusch, J Seidel, ... The American Journal of Human Genetics 66 (4), 1211-1220, 2000 | 154 | 2000 |
Control of copper homeostasis in Escherichia coli by a P-type ATPase, CopA, and a MerR-like transcriptional activator, CopR C Petersen, LB Møller Gene 261 (2), 289-298, 2000 | 141 | 2000 |
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency JLK Van Hove, J Steyaert, G Matthijs, E Legius, P Theys, R Wevers, ... Journal of Neurology, Neurosurgery & Psychiatry 77 (1), 18-23, 2006 | 136 | 2006 |
Copper-transporting P-type ATPases use a unique ion-release pathway M Andersson, D Mattle, O Sitsel, T Klymchuk, AM Nielsen, LB Møller, ... Nature structural & molecular biology 21 (1), 43-48, 2014 | 119 | 2014 |
Structure and function of the urokinase receptor LB Møller Blood coagulation & fibrinolysis 4 (2), 293-304, 1993 | 116 | 1993 |
The RihA, RihB, and RihC ribonucleoside hydrolases of Escherichia coli: substrate specificity, gene expression, and regulation C Petersen, LB Møller Journal of Biological Chemistry 276 (2), 884-894, 2001 | 102 | 2001 |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy C Jespersgaard, M Fang, M Bertelsen, X Dang, H Jensen, Y Chen, ... Scientific reports 9 (1), 1219, 2019 | 100 | 2019 |
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin P Huppke, C Brendel, V Kalscheuer, GC Korenke, I Marquardt, ... The American Journal of Human Genetics 90 (1), 61-68, 2012 | 100 | 2012 |
N-linked glycosylation of the ligand-binding domain of the human urokinase receptor contributes to the affinity for its ligand LB Møller, J Pöllänen, E Rønne, N Pedersen, F Blasi Journal of Biological Chemistry 268 (15), 11152-11159, 1993 | 100 | 1993 |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients C Bonnet, Z Riahi, S Chantot-Bastaraud, L Smagghe, M Letexier, ... European Journal of Human Genetics 24 (12), 1730-1738, 2016 | 99 | 2016 |
Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene LB Møller, C Petersen, C Lund, N Horn Gene 257 (1), 13-22, 2000 | 92 | 2000 |
Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance SS Kaalund, MT Venø, M Bak, RS Møller, H Laursen, F Madsen, ... Epilepsia 55 (12), 2017-2027, 2014 | 87 | 2014 |
Impairment of interrelated iron-and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders T Skjørringe, LB Møller, T Moos Frontiers in pharmacology 3, 169, 2012 | 87 | 2012 |
Molecular diagnosis of Menkes disease: genotype–phenotype correlation LB Møller, M Mogensen, N Horn Biochimie 91 (10), 1273-1277, 2009 | 85 | 2009 |
Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease Z Tümer, LB Møller, N Horn Copper transport and its disorders: molecular and cellular aspects, 83-95, 1999 | 84 | 1999 |
Biopterin responsive phenylalanine hydroxylase deficiency R Matalon, R Koch, K Michals-Matalon, K Moseley, S Surendran, S Tyring, ... Genetics in Medicine 6 (1), 27-32, 2004 | 83 | 2004 |