| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 415 | 2008 |
| Congenital disorders of glycosylation (CDG): Quo vadis? R Péanne, P De Lonlay, F Foulquier, U Kornak, DJ Lefeber, E Morava, ... European journal of medical genetics 61 (11), 643-663, 2018 | 241 | 2018 |
| Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II F Foulquier, E Vasile, E Schollen, N Callewaert, T Raemaekers, ... Proceedings of the National Academy of Sciences 103 (10), 3764-3769, 2006 | 219 | 2006 |
| TMEM165 deficiency causes a congenital disorder of glycosylation F Foulquier, M Amyere, J Jaeken, R Zeevaert, E Schollen, V Race, ... The American Journal of Human Genetics 91 (1), 15-26, 2012 | 209 | 2012 |
| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation F Molinari, F Foulquier, PS Tarpey, W Morelle, S Boissel, J Teague, ... The American Journal of Human Genetics 82 (5), 1150-1157, 2008 | 183 | 2008 |
| Golgi function and dysfunction in the first COG4-deficient CDG type II patient E Reynders, F Foulquier, E Leão Teles, D Quelhas, W Morelle, ... Human molecular genetics 18 (17), 3244-3256, 2009 | 170 | 2009 |
| DPM2‐CDG: a muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy R Barone, C Aiello, V Race, E Morava, F Foulquier, M Riemersma, ... Annals of neurology 72 (4), 550-558, 2012 | 168 | 2012 |
| Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells D Demaegd, F Foulquier, AS Colinet, L Gremillon, D Legrand, P Mariot, ... Proceedings of the National Academy of Sciences 110 (17), 6859-6864, 2013 | 154 | 2013 |
| A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation F Foulquier, D Ungar, E Reynders, R Zeevaert, P Mills, MT García-Silva, ... Human molecular genetics 16 (7), 717-730, 2007 | 145 | 2007 |
| Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation P Paesold-Burda, C Maag, H Troxler, F Foulquier, P Kleinert, S Schnabel, ... Human molecular genetics 18 (22), 4350-4356, 2009 | 121 | 2009 |
| Sialyltransferases functions in cancers A Harduin-Lepers, MA Krzewinski-Recchi, F Colomb, F Foulquier, ... Frontiers in Bioscience-Elite 4 (1), 499-515, 2012 | 114 | 2012 |
| Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation R Zeevaert, F Foulquier, J Jaeken, G Matthijs Molecular genetics and metabolism 93 (1), 15-21, 2008 | 112 | 2008 |
| CCDC115 deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation JC Jansen, S Cirak, M Van Scherpenzeel, S Timal, J Reunert, S Rust, ... The American Journal of Human Genetics 98 (2), 310-321, 2016 | 109 | 2016 |
| Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis S Potelle, W Morelle, E Dulary, S Duvet, D Vicogne, C Spriet, ... Human molecular genetics 25 (8), 1489-1500, 2016 | 104 | 2016 |
| Cohen syndrome is associated with major glycosylation defects L Duplomb, S Duvet, D Picot, G Jego, S El Chehadeh-Djebbar, N Marle, ... Human molecular genetics 23 (9), 2391-2399, 2014 | 101 | 2014 |
| How Golgi glycosylation meets and needs trafficking: the case of the COG complex E Reynders, F Foulquier, W Annaert, G Matthijs Glycobiology 21 (7), 853-863, 2011 | 96 | 2011 |
| TMEM199 deficiency is a disorder of Golgi homeostasis characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylation JC Jansen, S Timal, M Van Scherpenzeel, H Michelakakis, D Vicogne, ... The American Journal of Human Genetics 98 (2), 322-330, 2016 | 89 | 2016 |
| COG defects, birth and rise! F Foulquier Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (9), 896-902, 2009 | 89 | 2009 |
| MAN1B1 deficiency: an unexpected CDG-II D Rymen, R Peanne, MB Millón, V Race, L Sturiale, D Garozzo, P Mills, ... PLoS genetics 9 (12), e1003989, 2013 | 81 | 2013 |
| Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype E Blommaert, R Péanne, NA Cherepanova, D Rymen, F Staels, J Jaeken, ... Proceedings of the National Academy of Sciences 116 (20), 9865-9870, 2019 | 76 | 2019 |
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