Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C von Brockington, M, Yuva, Y, Prandini, P, Brown, S C, Torelli, S, Benson, MA, Herrmann, R, Anderson, LVB, Bashir, R, Burgunder, J-M, Fallet, S, Romero, N, Fardeau, M, Muntoni, F

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C von BROCKINGTON, Martin, YUVA, Yeliz, FALLET, Shari, ROMERO, Norma, FARDEAU, Michel, STRAUB, Volker, STOREY, Gillian, POLLITT, Christine, RICHARD, Isabelle, SEWRY, Caroline A, BUSHBY, Kate, VOIT, Thomas, PRANDINI, Paola, BLAKE, Derek J, MUNTONI, Francesco, BROWN, Susan C, TORELLI, Silvia, BENSON, Matthew A, HERRMANN, Ralf, ANDERSON, Louise V. B, BASHIR, Rumaisa, BURGUNDER, Jean-Marc

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The phenotype of limb-girdle muscular dystrophy type 2I von Poppe, M, Cree, L, Bourke, J, Eagle, M, Anderson, L V B, Birchall, D, Brockington, M, Buddles, M, Busby, M, Muntoni, F, Wills, A, Bushby, K

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Multiplex Western Blotting System for the Analysis of Muscular Dystrophy Proteins von Anderson, Louise V.B., Davison, Keith

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Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A von Lefranc, Gérard, Baghdiguian, Stephen, Martin, Marianne, Richard, Isabelle, Pons, Françoise, Astier, Catherine, Bourg, Nathalie, Hay, Ronald T, Chemaly, Raymond, Halaby, Georges, Loiselet, Jacques, Anderson, Louise V. B, Munain, Adolfo Lopez de, Fardeau, Michel, Mangeat, Paul, Beckmann, Jacques S

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Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development von Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Young, Carol, Cullen, Michael J., Walsh, John, Johnson, Margaret A., Bashir, Rumaisa, Britton, Stephen, Keers, Sharon, Argov, Zohar, Mahjneh, Ibrahim, Fougerousse, Françoise, Beckmann, Jacques S., Bushby, Kate M. D.

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Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B von Storch, Maria, Burkhardt, Elke, Moss, Jennifer A, Ivanova, Silva, Reis, André, Harrison, Ruth, Maerk, Isabel, Karbasiyan, Mohsen, Lassmann, Hans, Höger, Harald, Davison, Keith, Bittner, Reginald E, Jung, Martin, Vafiadaki, Elizabeth, Raffelsberger, Thomas, Bushby, Kate M.D, Anderson, Louise V.B, Bashir, Rumaisa

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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s) von Weiler, Tracey, Bashir, Rumaisa, Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Britton, Stephen, Nylen, Edward, Keers, Sharon, Vafiadaki, Elizabeth, Greenberg, Cheryl R., Bushby, Kate M. D., Wrogemann, Klaus

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Clinical variability in calpainopathy: what makes the difference? von de Paula, Flávia, Vainzof, Mariz, Passos-Bueno, Maria Rita, de Cássia M Pavanello, Rita, Matioli, Sergio Russo, V B Anderson, Louise, Nigro, Vincenzo, Zatz, Mayana

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Calpainopathy—A Survey of Mutations and Polymorphisms von Richard, I., Roudaut, C., Saenz, A., Pogue, R., Grimbergen, J.E.M.A., Anderson, L.V.B., Beley, C., Cobo, A-M, de Diego, C., Eymard, B., Gallano, P., Ginjaar, H.B., Lasa, A., Pollitt, C., Topaloglu, H., Urtizberea, J.A., de Visser, M., van der Kooi, A., Bushby, K., Bakker, E., Lopez de Munain, A., Fardeau, M., Beckmann, J.S.

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Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display von HUANG, Yanchao, VERHEESEN, Peter, DE HAARD, Hans, BUSHBY, Kate, DEN DUNNEN, Johan, VAN DER MAAREL, Silvère M, ROUSSIS, Andreas, FRANKHUIZEN, Wendy, GINJAAR, Ieke, HALDANE, Faye, LAVAL, Steve, ANDERSON, Louise V. B, VERRIPS, Theo, FRANTS, Rune R

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Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A von Anderson, Louise V.B., Davison, Keith, Moss, Jennifer A., Richard, Isabelle, Fardeau, Michel, Tomé, Fernando M.S., Hübner, Christoph, Lasa, Adriana, Colomer, Jaume, Beckmann, Jacques S.

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) von Anderson, Louise V.B, Harrison, Ruth M, Pogue, Robert, Vafiadaki, Elizabeth, Pollitt, Christine, Davison, Keith, Moss, Jennifer A, Keers, Sharon, Pyle, Angela, Shaw, Pamela J, Mahjneh, Ibrahim, Argov, Zohar, Greenberg, Cheryl R, Wrogemann, Klaus, Bertorini, Tulio, Goebel, Hans H, Beckmann, Jacques S, Bashir, Rumaisa, Bushby, Kate M.D

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach von Pollitt, C., Anderson, L.V.B., Pogue, R., Davison, K., Pyle, A., Bushby, K.M.D.

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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies von Vainzof, M., Passos-Bueno, M. R., Canovas, M., Moreira, E. S., Pavanello, R. C. M., Marie, S. K., Anderson, L. V. B., Bonnemann, C. G., McNally, E. M., Nigro, V., Kunkel, L. M., Zatz, M.

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A distinct phenotype of distal myopathy in a large Finnish family von MAHJNEH, I, HARAVUORI, H, PAETAU, A, ANDERSON, L. V. B, SAARINEN, A, UDD, B, SOMER, H

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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice von von der Hagen, Maja, Laval, Steven H., Cree, Lynsey M., Haldane, Faye, Pocock, Matthew, Wappler, Ilka, Peters, Heiko, Reitsamer, Herbert A., Hoger, Harald, Wiedner, Maria, Oberndorfer, Felicitas, Anderson, Louise V.B., Straub, Volker, Bittner, Reginald E., Bushby, Kate M.D.

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Characterization of the Transmembrane Molecular Architecture of the Dystroglycan Complex in Schwann Cells von Saito, F, Masaki, T, Kamakura, K, Anderson, L V, Fujita, S, Fukuta-Ohi, H, Sunada, Y, Shimizu, T, Matsumura, K

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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family von Ginjaar, I B, Kneppers, A L, v d Meulen, J D, Anderson, L V, Bremmer-Bout, M, van Deutekom, J C, Weegenaar, J, den Dunnen, J T, Bakker, E

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Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations von Mahjneh, Ibrahim, Marconi, Giampiero, Bushby, Kate, Anderson, Louise V.B, Tolvanen-Mahjneh, Henna, Somer, Hannu

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