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Browsing by Author Barth, P.G.

Full Text	Issue Date	Title	Author(s)
	2008	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.	Budde, B.S.; Namavar, Y.; Barth, P.G.; Poll-The, B.T.; Nurnberg, G., et al
	2007	Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.	Kooi, A.J. van der; Frankhuizen, W.S.; Barth, P.G.; Howeler, C.J.; Padberg, G.W.A.M., et al
	2005	Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.	Straaten, H.L.M. van; Tintelen, J.P. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den; Troost, D., et al
	2005	POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.	Reeuwijk, J. van; Janssen, M.; Elzen, C. van der; Beltran Valero de Bernabe, D.; Sabatelli, P., et al
	2005	POMT2 mutations cause {alpha}-dystroglycan hypoglycosylation and Walker-Warburg syndrome	Reeuwijk, J. van; Janssen, M.; Elzen, C. van den; Beltran Valero de Bernabe, D.; Sabatelli, P., 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	Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.	Poll-The, B.T.; Gootjes, J.; Duran, M.; Klerk, J.B.C. de; Wenniger-Prick, L.J., 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	Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency.	Bakker, H.; Bogert, C. van den; Drewes, J.G.; Barth, P.G.; Scholte, H.R., et al
	1996	The clinical spectrum of limb girdle muscular dystrophy : a survey in the Netherlands	Kooi, A.J. van der; Barth, P.G.; Busch, H.F.M.; Haan, R.J. de; Ginjaar, H.B., et al
	1996	Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group	Motley, A.M.; Tabak, H.F.; Smeitink, J.A.M.; Poll-The, B.T.; Barth, P.G., 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	Immunophenotyping of congenital myopathies : disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins	Ven, P.F.M. van der; Jap, P.H.K.; Laak, H.J. ter; Nonaka, I.; Barth, P.G., et al
	1995	Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins	Ven, P.F.M. van der; Jap, P.H.K.; Laak, H.J. ter; Nonaka, I.; Barth, P.G., et al
	1995	Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro	Ven, P.F.M. van der; Jap, P.H.K.; Laak, H.J. ter; Nonaka, I.; Barth, P.G., et al
	1995	Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein	Ligtenberg, M.J.L.; Kemp, S.; Sarde, C.O.; Geel, B.M. van; Kleijer, W.J., et al
	1995	Congenital muscular dystrophy and severe central nervous system atrophy in two siblings	Leyten, Q.H.; Barth, P.G.; Gabreëls, F.J.M.; Renkawek, K.; Renier, W.O., et al
	1995	Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy	Nijtmans, L.G.J.; Barth, P.G.; Lincke, C.R.; Galen, M.J.M. van; Zwart, R., et al
	1995	Two intronic mutations in the adrenoleukodystrophy gene	Kemp, S.; Ligtenberg, M.J.L.; Geel, B.M. van; Barth, P.G.; Sarde, C.O., et al
	1995	Oral-facial-digital syndromes and cerebral malformations	Bruijn, J.K.J.; Rotteveel, J.J.; Brouwer, O.F.; Barth, P.G.