Pontocerebellar hypoplasias : an overview of a group of inherited neurodegenerative disorders with fetal onset von BARTH, P. G

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POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome von van Reeuwijk, J, Janssen, M, van den Elzen, C, Beltran-Valero de Bernabé, D, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M A, Verrips, A, Walsh, C A, Barth, P G, Brunner, H G, van Bokhoven, H

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Clinical and biochemical spectrum of D-bifunctional protein deficiency von Ferdinandusse, Sacha, Denis, Simone, Mooyer, Petra A. W., Dekker, Conny, Duran, Marinus, Soorani-Lunsing, Roelineke J., Boltshauser, Eugen, Macaya, Alfons, Gärtner, Jutta, Majoie, Charles B. L. M., Barth, Peter G., Wanders, Ronald J. A., Poll-The, Bwee Tien

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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update von Barth, Peter G., Valianpour, Fredoen, Bowen, Valerie M., Lam, Jan, Duran, Marinus, Vaz, Frédéric M., Wanders, Ronald J.A.

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Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome von Vreken, Peter, Valianpour, Fredoen, Nijtmans, Leo G., Grivell, Les A., Plecko, Barbara, Wanders, Ronald J.A., Barth, Peter G.

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Peripheral nerve abnormalities in adrenomyeloneuropathy : a clinical and electrodiagnostic study von VAN GEEL, B. M, KOELMAN, J. H. T. M, BARTH, P. G, ONGERBOER DE VISSER, B. W

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Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis von Valianpour, Fredoen, Mitsakos, Voula, Schlemmer, Dimitri, Towbin, Jeffrey A, Taylor, Juliet M, Ekert, Paul G, Thorburn, David R, Munnich, Arnold, Wanders, Ronald J. A, Barth, Peter G, Vaz, Frédéric M

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Only One Splice Variant of the Human TAZ Gene Encodes a Functional Protein with a Role in Cardiolipin Metabolism von Vaz, Frédéric M., Houtkooper, Riekelt H., Valianpour, Fredoen, Barth, Peter G., Wanders, Ronald J.A.

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Alexander Disease: Diagnosis with MR Imaging von van der Knaap, Marjo S, Naidu, Sakkubai, Breiter, Steven N, Blaser, Susan, Stroink, Hans, Springer, Stephan, Begeer, Jacobus C, van Coster, Rudy, Barth, Peter G, Thomas, Neil H, Valk, Jacob, Powers, James M

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MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata von BAMS-MENGERINK, A. M, MAJOIE, C. B. L. M, DURAN, M, WANDERS, R. J. A, VAN HOVE, J, SCHEURER, C. D, BARTH, P. G, POLL-THE, B. T

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The Spectrum of Cranial Ultrasound and Magnetic Resonance Imaging Abnormalities in Congenital Cytomegalovirus Infection von De Vries, L. S., Gunardi, H., Barth, P. G., Bok, L. A., Verboon-Maciolek, M. A., Groenendaal, F.

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Aicardi-Goutières syndrome: An update and results of interferon-α studies von GoutièRes, Françoise, Aicardi, Jean, Barth, Peter G., Lebon, Pierre

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Sequential MR Imaging Changes in Nonketotic Hyperglycinemia von Mourmans, J, Majoie, C.B.L.M, Barth, P.G, Duran, M, Akkerman, E.M, Poll-The, B.T

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A new leukoencephalopathy with vanishing white matter von VAN DER KNAAP, M. S, BARTH, P. G, GABREËLS, F. J. M, FRANZONI, E, BEGEER, J. H, STROINK, H, ROTTEVEEL, J. J, VALK, J

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Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis von Kuijpers, Taco W., Maianski, Nikolai A., Tool, Anton T.J., Becker, Kolja, Plecko, Barbara, Valianpour, Fredoen, Wanders, Ron J.A., Pereira, Rob, Van Hove, Johan, Verhoeven, Arthur J., Roos, Dirk, Baas, Frank, Barth, Peter G.

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Phenotypic variation in leukoencephalopathy with vanishing white matter von VAN DER KNAAP, M. S, KAMPHORST, W, BARTH, P. G, KRAAIJEVELD, C. L, GUT, E, VALK, J

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Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy von Kemp, Stephan, Valianpour, Fredoen, Denis, Simone, Ofman, Rob, Sanders, Robert-Jan, Mooyer, Petra, Barth, Peter G., Wanders, Ronald J.A.

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Cardiolipin deficiency in x-linked cardioskeletal myopathy and neutropenia (barth syndrome, mim 302060): a study in cultured skin fibroblasts von Valianpour, Fredoen, Wanders, Ronald J.A., Overmars, Henk, Vreken, Peter, van Gennip, Albert H., Baas, Frank, Plecko, Barbara, Santer, Rene, Becker, Kolja, Barth, Peter G.

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O43 – 1896 The neurology of rhizomelic chondrodysplasia punctata von Bams-Mengerink, AM, Koelman, JHTM, Waterham, H, Barth, PG, Poll-The, BT

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I von Triepels, R. H., Van Den Heuvel, L. P., Loeffen, J. L. C. M., Buskens, C. A. F., Smeets, R. J. P., Rubio Gozalbo, M. E., Budde, S. M. S., Mariman, E. C., Wijburg, F. A., Barth, P. G., Trijbels, J. M. F., Smeitink, J. A. M.

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