1 - 25 of 60 results for author:"Wevers R.A." in Literature citations
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| Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. FORGE Canada Consortium Am. J. Hum. Genet. 91:1073-1081(2012) · Mapped (4) |
| Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Morava E., Vodopiutz J., Lefeber D.J., Janecke A.R., Schmidt W.M., Lechner S., Item C.B., Sykut-Cegielska J., Adamowicz M., Wierzba J. et al. Pediatrics 130:e1034-9(2012) · Mapped (2) |
| Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Fischer B., Dimopoulou A., Egerer J., Gardeitchik T., Kidd A., Jost D., Kayserili H., Alanay Y., Tantcheva-Poor I., Mangold E. et al. Hum. Genet. 131:1761-1773(2012) · Mapped (3) |
| Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Wortmann S.B., Vaz F.M., Gardeitchik T., Vissers L.E., Renkema G.H., Schuurs-Hoeijmakers J.H., Kulik W., Lammens M., Christin C., Kluijtmans L.A. et al. |
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. Lefeber D.J., de Brouwer A.P., Morava E., Riemersma M., Schuurs-Hoeijmakers J.H., Absmanner B., Verrijp K., van den Akker W.M., Huijben K., Steenbergen G. et al. PLoS Genet. 7:e1002427-e1002427(2011) · Mapped (2) |
| Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Holleboom A.G., Karlsson H., Lin R.S., Beres T.M., Sierts J.A., Herman D.S., Stroes E.S., Aerts J.M., Kastelein J.J., Motazacker M.M. et al. Cell Metab. 14:811-818(2011) · Mapped (5) |
| Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Achouitar S., Goldstein J.L., Mohamed M., Austin S., Boyette K., Blanpain F.M., Rehder C.W., Kishnani P.S., Wortmann S.B., den Heijer M. et al. Mol. Genet. Metab. 104:691-694(2011) · Mapped (1) |
| Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Banka S., Blom H.J., Walter J., Aziz M., Urquhart J., Clouthier C.M., Rice G.I., de Brouwer A.P., Hilton E., Vassallo G. et al. Am. J. Hum. Genet. 88:216-225(2011) · UniProtKB (1) · Mapped (3) |
| What have we here? A man or a fish? Nanayakkara P.W., Meijboom M., Kramer M.H., Wevers R.A., Jakobs C. Lancet 376:1710-1710(2010) · Mapped (4) |
| Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. Morava E., Kuhnisch J., Drijvers J.M., Robben J.H., Cremers C., van Setten P., Branten A., Stumpp S., de Jong A., Voesenek K. et al. J. Clin. Endocrinol. Metab. 96:E189-98(2011) · Mapped (3) |
| A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Morava E., Wevers R.A., Cantagrel V., Hoefsloot L.H., Al-Gazali L., Schoots J., van Rooij A., Huijben K., van Ravenswaaij-Arts C.M., Jongmans M.C. et al. Brain 133:3210-3220(2010) · Mapped (1) |
| Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox. Wassenberg T., Willemsen M.A., Geurtz P.B., Lammens M., Verrijp K., Wilmer M., Lee W.T., Wevers R.A., Verbeek M.M. Mol. Genet. Metab. 101:349-356(2010) · Mapped (6) |
| SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cantagrel V., Lefeber D.J., Ng B.G., Guan Z., Silhavy J.L., Bielas S.L., Lehle L., Hombauer H., Adamowicz M., Swiezewska E. et al. |
| Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Engelke U.F., Zijlstra F.S., Mochel F., Valayannopoulos V., Rabier D., Kluijtmans L.A., Perl A., Verhoeven-Duif N.M., de Lonlay P., Wamelink M.M. et al. Biochim. Biophys. Acta 1802:1028-1035(2010) · Mapped (4) |
| Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Valstar M.J., Bertoli-Avella A.M., Wessels M.W., Ruijter G.J.G., de Graaf B., Olmer R., Elfferich P., Neijs S., Kariminejad R., Suheyl Ezgue F. et al. Hum. Mutat. 31:E1348-E1360(2010) · UniProtKB (1) · Mapped (7) |
| Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. Voermans N.C., Guillard M., Doedee R., Lammens M., Huizing M., Padberg G.W., Wevers R.A., van Engelen B.G., Lefeber D.J. Clin. Neuropathol. 29:71-77(2010) · Mapped (6) |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Leen W.G., Klepper J., Verbeek M.M., Leferink M., Hofste T., van Engelen B.G., Wevers R.A., Arthur T., Bahi-Buisson N., Ballhausen D. et al. Brain 133:655-670(2010) · UniProtKB (1) |
| Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients. Nijland R., Hartog F.E., Wevers R.A., Wanders R.J., Willemsen W.N. J Pediatr Adolesc Gynecol 22:229-231(2009) · Mapped (18) |
| Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Lefeber D.J., Schonberger J., Morava E., Guillard M., Huyben K.M., Verrijp K., Grafakou O., Evangeliou A., Preijers F.W., Manta P. et al. Am. J. Hum. Genet. 85:76-86(2009) · UniProtKB (1) |
| Free sialic acid storage disease without sialuria. Mochel F., Yang B., Barritault J., Thompson J.N., Engelke U.F., McNeill N.H., Benko W.S., Kaneski C.R., Adams D.R., Tsokos M. et al. Ann. Neurol. 65:753-757(2009) · Mapped (4) |
| Autosomal recessive cutis laxa syndrome revisited. Morava E., Guillard M., Lefeber D.J., Wevers R.A. Eur. J. Hum. Genet. 17:1099-1110(2009) · Mapped (3) |
| Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hucthagowder V., Morava E., Kornak U., Lefeber D.J., Fischer B., Dimopoulou A., Aldinger A., Choi J., Davis E.C., Abuelo D.N. et al. Hum. Mol. Genet. 18:2149-2165(2009) · Mapped (3) |
| Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. Engelke U.F., Tassini M., Hayek J., de Vries M., Bilos A., Vivi A., Valensin G., Buoni S., Zannolli R., Brussel W. et al. NMR Biomed 22:538-544(2009) · Mapped (2) |
| Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Guillard M., Dimopoulou A., Fischer B., Morava E., Lefeber D.J., Kornak U., Wevers R.A. Biochim. Biophys. Acta 1792:903-914(2009) · Mapped (3) |
| Two Greek siblings with sepiapterin reductase deficiency. Verbeek M.M., Willemsen M.A., Wevers R.A., Lagerwerf A.J., Abeling N.G., Blau N., Thony B., Vargiami E., Zafeiriou D.I. Mol. Genet. Metab. 94:403-409(2008) · Mapped (3) |