Articles with public access mandates - Gert MatthijsLearn more
Not available anywhere: 13
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
P Van Damme, JH Veldink, M van Blitterswijk, A Corveleyn, ...
Neurology 76 (24), 2066-2072, 2011
Mandates: Research Foundation (Flanders), Motor Neurone Disease Association, UK
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)
TDP-43 M311V mutation in familial amyotrophic lateral sclerosis
R Lemmens, V Race, N Hersmus, G Matthijs, L Van Den Bosch, ...
Journal of Neurology, Neurosurgery & Psychiatry 80 (3), 354-355, 2009
Mandates: Research Foundation (Flanders)
Key features and clinical variability of COG6-CDG
D Rymen, J Winter, PM Van Hasselt, J Jaeken, C Kasapkara, G Gokçay, ...
Molecular genetics and metabolism 116 (3), 163-170, 2015
Mandates: Research Foundation (Flanders)
Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study
S Debray, V Race, V Crabbé, S Herdewyn, G Matthijs, A Goris, B Dubois, ...
Neurobiology of aging 34 (12), 2890. e7-2890. e12, 2013
Mandates: Research Foundation (Flanders)
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip
C Thiel, N Rind, D Popovici, GF Hoffmann, K Hanson, RL Conway, ...
Human mutation 33 (3), 485-487, 2012
Mandates: German Research Foundation
DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype
IA Carrera, G Matthijs, B Perez, CP Cerdá
American Journal of Medical Genetics Part A 158 (8), 2027-2030, 2012
Mandates: Government of Spain
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)
SRD5A3-CDG: a patient with a novel mutation
CS Kasapkara, L Tümer, FS Ezgü, A Hasanoğlu, V Race, G Matthijs, ...
european journal of paediatric neurology 16 (5), 554-556, 2012
Mandates: US National Institutes of Health
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)
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG
P Yuste‐Checa, C Medrano, A Gámez, LR Desviat, G Matthijs, M Ugarte, ...
Clinical genetics 87 (1), 42-48, 2015
Mandates: Government of Spain
Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation
H Van Esch, L Buekenhout, V Race, G Matthijs
European journal of medical genetics 52 (1), 37-40, 2009
Mandates: Research Foundation (Flanders)
EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′ EPCAM deletion
M Spaepen, E Neven, X Sagaert, G De Hertogh, E Beert, K Wimmer, ...
Genes, Chromosomes and Cancer 52 (9), 845-854, 2013
Mandates: Research Foundation (Flanders)
Available somewhere: 55
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, 2008
Mandates: Research Foundation (Flanders), German Research Foundation
International cooperation to enable the diagnosis of all rare genetic diseases
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...
The American Journal of Human Genetics 100 (5), 695-705, 2017
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Multiple phenotypes in phosphoglucomutase 1 deficiency
LC Tegtmeyer, S Rust, M van Scherpenzeel, BG Ng, ME Losfeld, S Timal, ...
New England Journal of Medicine 370 (6), 533-542, 2014
Mandates: US National Institutes of Health, Research Foundation (Flanders)
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, 2017
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)
CDG nomenclature: time for a change!
J Jaeken, T Hennet, G Matthijs, HH Freeze
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (9), 825-826, 2009
Mandates: US National Institutes of Health
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)
Publication and funding information is determined automatically by a computer program