What's new in pontocerebellar hypoplasia? An update on genes and subtypes von van Dijk, Tessa, Baas, Frank, Barth, Peter G, Poll-The, Bwee Tien

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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia von Namavar, Yasmin, Barth, Peter G, Poll-The, Bwee Tien, Baas, Frank

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Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study von Mazar, Iyar, Stokes, Jonathan, Ollis, Sarah, Love, Emily, Espensen, Ashlee, Barth, Peter G, Powers, 3rd, John H, Shields, Alan L

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The neurology of rhizomelic chondrodysplasia punctata von Bams-Mengerink, Annemieke M, Koelman, Johannes Htm, Waterham, Hans, Barth, Peter G, Poll-The, Bwee Tien

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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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Cerebellar dentate dysplasia von Barth, Peter G

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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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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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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature von Wortmann, Saskia B., Duran, Marinus, Anikster, Yair, Barth, Peter G., Sperl, Wolfgang, Zschocke, Johannes, Morava, Eva, Wevers, Ron A.

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Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies von Lehtokari, Vilma-Lotta, Kiiski, Kirsi, Sandaradura, Sarah A., Laporte, Jocelyn, Repo, Pauliina, Frey, Jennifer A., Donner, Kati, Marttila, Minttu, Saunders, Carol, Barth, Peter G., den Dunnen, Johan T., Beggs, Alan H., Clarke, Nigel F., North, Kathryn N., Laing, Nigel G., Romero, Norma B., Winder, Thomas L., Pelin, Katarina, Wallgren-Pettersson, Carina

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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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Rhombencephalosynapsis: new findings in a larger study von Barth, Peter G

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia von NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M

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Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood von Berendse, Kevin, Engelen, Marc, Ferdinandusse, Sacha, Majoie, Charles B. L. M., Waterham, Hans R., Vaz, Frédéric M., Koelman, Johannes H. T. M., Barth, Peter G., Wanders, Ronald J. A., Poll-The, Bwee Tien

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Natural course of pontocerebellar hypoplasia type 2A von Sánchez-Albisua, Iciar, Frölich, Saskia, Barth, Peter G, Steinlin, Maja, Krägeloh-Mann, Ingeborg

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Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels von Walter, Claudia, Gootjes, Jeannette, Mooijer, Petra A., Portsteffen, Herma, Klein, Christina, Waterham, Hans R., Barth, Peter G., Epplen, Jörg T., Kunau, Wolf-H., Wanders, Ronald J.A., Dodt, Gabriele

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Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy von WETERMAN, Marian A. J, BARTH, Peter G, SALVIATI, Leonardo, ANGELINI, Corrado, DEN HEUVEL, Lambertus Van, THOMASSE, Yolande E. M, BACKX, Ad P, NÜRNBERG, Gudrun, NÜRNBERG, Peter, BAAS, Frank, VAN SPAENDONCK-ZWARTS, Karin Y, ARONICA, Eleonora, POLL-THE, Bwee-Tien, BROUWER, Oebele F, TINTELEN, J. Peter Van, QAHAR, Zohal, BRADLEY, Edward J, DE WISSEL, Marit

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations von Eggens, Veerle Rc, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James A R, O'Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles Blm, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank

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