A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype von Beltrán-Valero de Bernabé, D, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W B, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H G

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome von Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F

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Structural and functional analysis of mutations in alkaptonuria von RODRIGUEZ, José M, TIMM, David E, TITUS, Gregory P, BELTRAN-VALERO DE BERNABE, D, CRIADO, O, MUELLER, Heather A, RODRIGUEZ DE CORDOBA, S, PENALVA, M. A

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Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients von Beltrán-Valero de Bernabé, D., Granadino, B., Chiarelli, I., Porfirio, B., Mayatepek, E., Aquaron, R., Moore, M.M., Festen, J.J.M., Sanmartí, R., Peñalva, M.A., Rodríguez de Córdoba, S.

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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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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome von Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.

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D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes von Willer, T, Lee, H, Lommel, M, Yoshida-Moriguchi, T, Beltran Valero de Bernabe, D, Venzke, D, Cirak, S, Schachter, H, Vajsar, J, Voit, T, Muntoni, F, Strahl, S, Mathews, K.D, Nelson, S.F, Moore, S.A, Campbell, K.P

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Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene ( HGO ) von Beltrán-Valero de Bernabé, D., Jimenez, F.J., Aquaron, R., Rodríguez de Córdoba, S.

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The molecular basis of alkaptonuria von Granadino, Begoña, Fernández-Cañón, José M, De Córdoba, Santiago Rodríguez, De Bernabé, Daniel Beltrán-Valero, Renedo, Mónica, Fernández-Ruiz, Elena, Peñalva, Miguel A

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Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10 von van der Zwaag, B, Verzijl, H T F M, Beltran-Valero de Bernabe, D, Schuster, V L, van Bokhoven, H, Kremer, H, van Reen, M, Wichers, G H, Brunner, H G, Padberg, G W

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A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy von Hara, Yuji, Balci-Hayta, Burcu, Yoshida-Moriguchi, Takako, Kanagawa, Motoi, Beltrán-Valero de Bernabé, Daniel, Gündeşli, Hülya, Willer, Tobias, Satz, Jakob S, Crawford, Robert W, Burden, Steven J, Kunz, Stefan, Oldstone, Michael B.A, Accardi, Alessio, Talim, Beril, Muntoni, Francesco, Topaloğlu, Haluk, Dinçer, Pervin, Campbell, Kevin P

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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots von ZATKOVA, Andrea, BELTRAN VALERO DE BERNABE, Daniel, POLAKOVA, Helena, ZVARIK, Marek, FERAKOVA, Eva, BOSAK, Vladimir, FERAK, Vladimir, KADASI, Udovit, RODRIGUEZ DE CORDOBA, Santiago

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The Human Homogentisate 1,2-Dioxygenase (HGO) Gene von Granadino, B., de Bernabé, D.Beltrán-Valero, Fernández-Cañón, J.M., Peñalva, M.A., de Córdoba, S.Rodrı́guez

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Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients von van der Zwaag, Bert, Verzijl, Harriette T.F.M., Wichers, Karin H., Beltran-Valero de Bernabe, Daniel, Brunner, Han G., van Bokhoven, Hans, Padberg, George W.

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POMT2 mutations cause  -dystroglycan hypoglycosylation and Walker-Warburg syndrome von van Reeuwijk, J

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Mutational analysis of the HGO gene in Finnish alkaptonuria patients von de Bernabé, Daniel Beltrán-Valero, Peterson, Pärt, Luopajärvi, Kristiina, Matintalo, Pirjo, Alho, Antti, Konttinen, Yrjö, Krohn, Kai, de Córdoba, Santiago Rodríguez, Ranki, Annamari

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Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene von PORFIRIO, BERARDINO, CHIARELLI, ILARIA, GRAZIANO, CLAUDIO, MANNONI, ALESSANDRO, MORRONE, AMELIA, ZAMMARCHI, ENRICO, DE BERNABÉ, DANIEL BELTRÁN-VALERO, DE CÓRDOBA, SANTIAGO RODRÍGUEZ

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome von Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, Francesco, Loder, Andrea S, Dobyns, William B, Winder, Thomas L, Strahl, Sabine, Mathews, Katherine D, Nelson, Stanley F, Moore, Steven A, Campbell, Kevin P

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Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice von Han, Renzhi, Frett, Ellie M, Levy, Jennifer R, Rader, Erik P, Lueck, John D, Bansal, Dimple, Moore, Steven A, Ng, Rainer, Beltrán-Valero de Bernabé, Daniel, Faulkner, John A, Campbell, Kevin P

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Loss of LARGE2 Disrupts Functional Glycosylation of α-Dystroglycan in Prostate Cancer von Esser, Alison K., Miller, Michael R., Huang, Qin, Meier, Melissa M., Beltran-Valero de Bernabé, Daniel, Stipp, Christopher S., Campbell, Kevin P., Lynch, Charles F., Smith, Brian J., Cohen, Michael B., Henry, Michael D.

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