| α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy J Mogensen, IC Klausen, AK Pedersen, H Egeblad, P Bross, TA Kruse, ... The Journal of clinical investigation 103 (10), R39-R43, 1999 | 535 | 1999 |
| Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 JJ Hansen, A Dürr, I Cournu-Rebeix, C Georgopoulos, D Ang, ... The American Journal of Human Genetics 70 (5), 1328-1332, 2002 | 474 | 2002 |
| Protein misfolding and human disease N Gregersen, P Bross, S Vang, JH Christensen Annu. Rev. Genomics Hum. Genet. 7 (1), 103-124, 2006 | 416 | 2006 |
| 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 | 352 | 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 | 316 | 1999 |
| Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms … BS Andresen, SF Dobrowolski, L O'Reilly, J Muenzer, SE McCandless, ... The American Journal of Human Genetics 68 (6), 1408-1418, 2001 | 278 | 2001 |
| Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy D Magen, C Georgopoulos, P Bross, D Ang, Y Segev, D Goldsher, ... The American Journal of Human Genetics 83 (1), 30-42, 2008 | 264 | 2008 |
| Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency RKJ Olsen, BS Andresen, E Christensen, P Bross, F Skovby, N Gregersen Human mutation 22 (1), 12-23, 2003 | 251 | 2003 |
| 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 | 227 | 2001 |
| Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional … JJ Hansen, P Bross, M Westergaard, M Nielsen, H Eiberg, AD Børglum, ... Human genetics 112, 71-77, 2003 | 220 | 2003 |
| 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 an unexpectedly … N Gregersen, VS Winter, MJ Corydon, TJ Corydon, P Rinaldo, A Ribes, ... Human molecular genetics 7 (4), 619-627, 1998 | 211* | 1998 |
| Dissection of functional domains in phage fd adsorption protein: discrimination between attachment and penetration sites I Stengele, P Bross, X Garces, J Giray, I Rasched Journal of molecular biology 212 (1), 143-149, 1990 | 184 | 1990 |
| Protein Misfolding and Cellular Stress in Disease and Aging N Gregersen, P Bross Methods 648 (1), 269-277, 2010 | 183* | 2010 |
| 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 | 166 | 2008 |
| The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? BS Andresen, P Bross, S Udvari, J Kirk, G Gray, S Kmoch, N Chamoles, ... Human molecular genetics 6 (5), 695-707, 1997 | 157 | 1997 |
| Riboflavin deficiency—implications for general human health and inborn errors of metabolism S Mosegaard, G Dipace, P Bross, J Carlsen, N Gregersen, RKJ Olsen International Journal of Molecular Sciences 21 (11), 3847, 2020 | 152 | 2020 |
| Leptin regulation of Hsp60 impacts hypothalamic insulin signaling A Kleinridders, HPMM Lauritzen, S Ussar, JH Christensen, MA Mori, ... The Journal of clinical investigation 123 (11), 4667-4680, 2013 | 144 | 2013 |
| Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different … BS Andresen, P Bross, C Vianey-Saban, P Divry, MT Zabot, CR Roe, ... Human Molecular Genetics 5 (4), 461-472, 1996 | 135 | 1996 |
| 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 |
| Influence of Lewis α1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels TF Ørntoft, EM Vestergaard, E Holmes, JS Jakobsen, N Grunnet, ... Journal of Biological Chemistry 271 (50), 32260-32268, 1996 | 122 | 1996 |
Cláudio M. GomesFaculty of Sciences University of Lisbon, BioISI and Department of Chemistry and BiochemistryDirección de correo verificada de fc.ul.pt
