Articles with public access mandates - FOULQUIER FrancoisLearn more
Not available anywhere: 7
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
Mandates: Research Foundation (Flanders)
A new mutation in COG7 extends the spectrum of COG subunit deficiencies
R Zeevaert, F Foulquier, D Cheillan, I Cloix, N Guffon, L Sturiale, ...
European journal of medical genetics 52 (5), 303-305, 2009
Mandates: Research Foundation (Flanders)
Screening for OST deficiencies in unsolved CDG-I patients
W Vleugels, E Schollen, F Foulquier, G Matthijs
Biochemical and biophysical research communications 390 (3), 769-774, 2009
Mandates: US National Institutes of Health, Research Foundation (Flanders)
Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients
S Duvet, D Mouajjah, R Péanne, G Matthijs, K Raymond, J Jaeken, ...
Electrophoresis 39 (24), 3133-3141, 2018
Mandates: European Commission
Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells
R Péanne, J Vanbeselaere, D Vicogne, AM Mir, C Biot, G Matthijs, ...
Methods in cell biology 118, 157-176, 2013
Mandates: Research Foundation (Flanders)
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation
Z Durin, J Dubail, A Layotte, D Legrand, V Cormier-Daire, F Foulquier
Human Genetics 141 (7), 1287-1298, 2022
Mandates: Agence Nationale de la Recherche
N-glycosylation deficiency reduces the activation of protein C and disrupts endothelial barrier integrity
T Pascreau, F Saller, EP Bianchini, D Lasne, A Bruneel, C Reperant, ...
Thrombosis and Haemostasis 122 (09), 1469-1478, 2022
Mandates: National Institute of Health and Medical Research, France, European Commission
Available somewhere: 53
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
Mandates: Research Foundation (Flanders), German Research Foundation
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
Mandates: European Commission
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
Mandates: US National Institutes of Health, Research Foundation (Flanders)
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
Mandates: Research Foundation (Flanders)
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
Mandates: Research Foundation (Flanders)
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
Mandates: Research Foundation (Flanders)
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
Mandates: Research Foundation (Flanders)
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
Mandates: Swiss National Science Foundation
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
Mandates: Research Foundation (Flanders)
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
Mandates: Netherlands Organisation for Scientific Research, Netherlands Organisation …
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
Mandates: US National Institutes of Health
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
Mandates: Research Foundation (Flanders)
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
Mandates: Netherlands Organisation for Scientific Research, Netherlands Organisation …
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