Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model: “When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini...

di Binkhorst, M., Wortmann, S. B., Funke, S., Kozicz, T., Wevers, R. A., Morava, E.
Pubblicazione 2011

Muscle tissue oxygenation as a functional tool in the follow up of dermatomyositis

di van Beekvelt, M C P, Wevers, R, van Engelen, B G M, Colier, W
Pubblicazione 2002

Vitamin B12 and folate concentrations in serum and cerebrospinal fluid of neurological patients with special reference to multiple sclerosis and dementia.

di Nijst, T Q, Wevers, R A, Schoonderwaldt, H C, Hommes, O R, de Haan, A F
Pubblicazione 1990

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

di Redonnet-Vernhet, I, Ploos van Amstel, J K, Jansen, R P, Wevers, R A, Salvayre, R, Levade, T
Pubblicazione 1996

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

di Poels, P J, Wevers, R A, Braakhekke, J P, Benders, A A, Veerkamp, J H, Joosten, E M
Pubblicazione 1993

The short-term effect of an immunosuppressive treatment on CSF myelin basic protein in chronic progressive multiple sclerosis.

di Lamers, K J, Uitdehaag, B M, Hommes, O R, Doesburg, W, Wevers, R A, von Geel, W J
Pubblicazione 1988

Phenotypic expression in mucopolysaccharidosis VII.

di Bernsen, P L, Wevers, R A, Gabreëls, F J, Lamers, K J, Sonnen, A E, Stekhoven, J H
Pubblicazione 1987

Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.

di Wevers, R A, Hansen, S I, van Hellenberg Hubar, J L, Holm, J, Høier-Madsen, M, Jongen, P J
Pubblicazione 1994

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

di Vervoort, R, Islam, M R, Sly, W, Chabas, A, Wevers, R, de Jong, J, Liebaers, I, Lissens, W
Pubblicazione 1995

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

di Burda, P, Borsig, L, de Rijk-van Andel, J, Wevers, R, Jaeken, J, Carchon, H, Berger, E G, Aebi, M
Pubblicazione 1998

Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients.

di Benders, A A, Timmermans, J A, Oosterhof, A, Ter Laak, H J, van Kuppevelt, T H, Wevers, R A, Veerkamp, J H
Pubblicazione 1993

Early life adversity and serotonin transporter gene variation interact at the level of the adrenal gland to affect the adult hypothalamo-pituitary-adrenal axis

di van der Doelen, R H A, Deschamps, W, D'Annibale, C, Peeters, D, Wevers, R A, Zelena, D, Homberg, J R, Kozicz, T
Pubblicazione 2014

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.

di Benders, A A, Veerkamp, J H, Oosterhof, A, Jongen, P J, Bindels, R J, Smit, L M, Busch, H F, Wevers, R A
Pubblicazione 1994

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

di Schollen, E, Frank, C, Keldermans, L, Reyntjens, R, Grubenmann, C, Clayton, P, Winchester, B, Smeitink, J, Wevers, R, Aebi, M, Hennet, T, Matthijs, G
Pubblicazione 2004

DBH gene variants that cause low plasma dopamine ß hydroxylase with or without a severe orthostatic syndrome

di Deinum, J, Steenbergen-Spanj..., G, Jansen, M, Boomsma, F, Lenders, J, van Ittersum, F J, Huck, N, van den Heuvel, L P, Wevers, R
Pubblicazione 2004

Clinical features, lectin staining, and a novel GNE frameshift mutation in HIBM

di Voermans, Nicol C., Guillard, M., Doedée, R., Lammens, M., Huizing, Marjan, Padberg, G.W., Wevers, R.A., van Engelen, B.G., Lefeber, D.J.
Pubblicazione 2010

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

di Waterham, H R, Wijburg, F A, Hennekam, R C, Vreken, P, Poll-The, B T, Dorland, L, Duran, M, Jira, P E, Smeitink, J A, Wevers, R A, Wanders, R J
Pubblicazione 1998

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

di van de Kamp, J M, Lefeber, D J, Ruijter, G J G, Steggerda, S J, den Hollander, N S, Willems, S M, Matthijs, G, Poorthuis, B J H M, Wevers, R A
Pubblicazione 2007

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

di Van Hove, J L K, Steyaert, J, Matthijs, G, Legius, E, Theys, P, Wevers, R, Romstad, A, Møller, L B, Hedrich, K, Goriounov, D, Blau, N, Klein, C, Casaer, P
Pubblicazione 2006

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

di Mochel, F, Engelke, U F.H., Barritault, J, Yang, B, McNeill, N H., Thompson, J N., Vanderver, A, Wolf, N I., Willemsen, M A., Verheijen, F W., Seguin, F, Wevers, R A., Schiffmann, R
Pubblicazione 2010