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Browsing by Author Knaap, M.S. van der

Full Text	Issue Date	Title	Author(s)
	2011	N-acetylaspartylglutamate in CNS hypomyelination	Wamelink, M.M.; Struys, E.; Holwerda, U.; Sistermans, E.A.; Spaendonk, R.M.L. van, et al
	2011	Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.	Vermeulen, R.J.; Peeters-Scholte, C.; Vugt, J.M.G. van; Barkhof, F.; Rizzu, P., et al
	2010	Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.	Willemsen, M.A.A.P.; Verbeek, M.M.; Kamsteeg, E.J.; Rijk-van Andel, J.F. de; Aeby, A., et al
	2010	Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.	Antonicka, H.; Ostergaard, E.; Sasarman, F.; Weraarpachai, W.; Wibrand, F., et al
	2010	IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.	Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A., et al
	2008	Walking and periventricular leukomalacia: locomotor characteristics and brain imaging (MRI).	Ledebt, A.; Savelsbergh, G.J.; Sie, L.T.L.; Knaap, M.S. van der
	2008	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.	Betsalel, O.T.; Kamp, JM van de; Martinez-Munoz, C.; Rosenberg, E.H.; Brouwer, A.P.M. de, et al
	2008	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.	Budde, B.S.; Namavar, Y.; Barth, P.G.; Poll-The, B.T.; Nurnberg, G., et al
	2008	MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.	Zafeiriou, D.I.; Rodenburg, R.J.; Scheffer, H.; Heuvel, L.P.v.d.; Pouwels, P.J., et al
	2008	Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.	Janssen, A.J.; Schuelke, M.; Smeitink, J.A.M.; Trijbels, F.J.; Sengers, R.C., et al
	2007	GLUT1 deficiency with delayed myelination responding to ketogenic diet.	Klepper, J.; Engelbrecht, V.; Scheffer, H.; Knaap, M.S. van der; Fiedler, A.
	2007	Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.	Scheper, G.C.; Klok, T. van der; Andel, R.J. van; Berkel, C.G. van; Sissler, M., et al
	2007	Clinical and molecular phenotype of Aicardi-Goutieres syndrome.	Rice, G.; Patrick, T.; Parmar, R.; Taylor, C.F.; Aeby, A., et al
	2006	Childhood white matter disorders: quantitative MR imaging and spectroscopy.	Voorn, J.P. van der; Pouwels, P.J.; Hart, A.A.M.; Serrarens, J.; Willemsen, M.A.A.P., et al
	2006	Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8.	Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Knaap, M.S. van der; Willemsen, M.A.A.P.
	2006	A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.	Ali, M.; Highet, L.J.; Lacombe, D.; Goizet, C.; King, M., et al
	2005	Fright is a provoking factor in vanishing white matter disease.	Vermeulen, G.; Seidl, R.; Mercimek-Mahmutoglu, S.; Rotteveel, J.J.; Scheper, G.C., et al
	2005	Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders.	Voorn, J.P. van der; Pouwels, P.J.; Kamphorst, W.; Powers, J.M.; Lammens, M.M.Y., et al
	2005	Predictive value of neonatal MRI with respect to late MRI findings and clinical outcome. A study in infants with periventricular densities on neonatal ultrasound.	Sie, L.T.L.; Hart, A.A.M.; Hof, J. ten; Groot, L. de; Lems, W., et al
	2004	Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.	Wolf, N.I.; Willemsen, M.A.A.P.; Engelke, U.F.H.; Knaap, M.S. van der; Pouwels, P.J., et al
	2004	Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.	Barth, P.G.; Majoie, C.B.; Gootjes, J.; Wanders, R.J.A.; Waterham, H.R., et al
	2004	MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy.	Willemsen, M.A.A.P.; Graaf, M. van der; Knaap, M.S. van der; Heerschap, A.; Domburg, P.H.M.F. van, et al
	1997	A new leukoencephalopathy with vanishing white matter	Knaap, M.S. van der; Barth, P.G.; Gabreëls, F.J.M.; Franzoni, E.; Begeer, J.H., et al
	1996	Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glyco-protein syndrome	Knaap, M.S. van der; Wevers, R.A.; Monnens, L.A.H.; Wijk, J.E.A.; Jakobs, C.
	1996	Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.	Bergman, A.J.I.W.; Knaap, M.S. van der; Smeitink, J.A.M.; Duran, M.; Dorland, L., et al
	1995	Spongy white matter changes, MR appearances, differential diagnosis and description of a new disease	Knaap, M.S. van der; Valk, J.; Barth, P.G.; Smit, L.M.E.; Engelen, B.G.M. van, et al
	1995	Hyperhomocysteinaemia; with reference to its neuroradiological aspects.	Berg, M. van den; Knaap, M.S. van der; Boers, G.H.J.; Stehouwer, C.D.A.; Rauwerda, J.A., et al