POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

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Motor neuron pathology in experimental autoimmune encephalomyelitis: studies in THY1-YFP transgenic mice von Bannerman, P. G., Hahn, A., Ramirez, S., Morley, M., Bönnemann, C., Yu, S., Zhang, G.-X., Rostami, A., Pleasure, D.

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Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum von Smith, C., Parboosingh, J.S., Boycott, K.M., Bönnemann, C.G., Mah, J.K., Lamont, R.E., Micheil Innes, A., Bernier, F.P.

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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia von Donkervoort, S., Dastgir, J., Hu, Y., Zein, W.M., Marks, H., Blackstone, C., Bönnemann, C.G.

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Col6A2 null mice are a new mouse model of collagen-VI related dystrophies and relevant to the human disease von Mohassel, P, Rooney, J, Zou, Y, Bönnemann, C

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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement von Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

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Late-onset mild myopathy with protein aggregates in two transgenic mouse models of FHL1 von Rooney, J, Zou, Y, Cowling, B, Mitchell, C, Bönnemann, C

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173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands von Bönnemann, C.G, Rutkowski, A, Mercuri, E, Muntoni, F

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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation von Voermans, N.C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M.C., Bönnemann, C., van Engelen, B.G., Hamel, B.C.

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Mutation-specific effects on thin filament length in thin filament myopathy von Winter, Josine M. de, Joureau, Barbara, Lee, Eun-Jeong, Kiss, Balázs, Yuen, Michaela, Gupta, Vandana A., Pappas, Christopher T., Gregorio, Carol C., Stienen, Ger J. M., Edvardson, Simon, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Pelin, Katarina, Malfatti, Edoardo, Romero, Norma B., Engelen, Baziel G. van, Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance von Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G

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Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype? von Korinthenberg, R, Schorling, D, Rost, S, Krueger, M, Beytia, M, Mueller, C, Bönnemann, C, Kirschner, J

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I.08 Motor neuron disease caused by excess sphingolipid synthesis von Mohassel, P., Dunn, T., Bönnemann, C.

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Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test? von Witherspoon, J.W., Vasavada, R., Logaraj, R.H., Waite, M., Collins, J., Shieh, C., Meilleur, K., Bönnemann, C., Jain, M.

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09P Delineating collagen VI genes expression patterns in mice skeletal muscles using RNAscope von Guirguis, F., Bolduc, V., Zhou, H., Muntoni, F., Bönnemann, C.

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54VP Emerging muscle ultrasound patterns as a diagnostic aid in TTN-related myopathy von Potticary, A., McAnally, M., Donkervoort, S., Bönnemann, C.

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Molecular basis of stiff patient syndrome caused by mutations in ACTA1 and TPM3 von Papadaki, M, Marston, S, Memo, M, Messer, A, Donkervoort, S, Bönnemann, C, Nowak, K, Ong, R, McNamara, E

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Quantitative MRI and MRS detect alterations in muscle quality in both congenital muscular dystrophy and Duchenne muscular dystrophy von Willcocks, R, Triplett, W, Lott, D, Forbes, S, Dastgir, J, Bönnemann, C, Vandenborne, K, Walter, G

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Detection of common and private mutations in the COL6A1 gene of patients with bethlem myopathy von LUCIOLI, S, GIUSTI, B, BÖNNEMANN, C, IANNACCONE, S. T, MERLINI, L, BUSHBY, K, MUNTONI, F, BERTINI, E, CHU, M.-L, PEPE, G, MERCURI, E, CAMACHO VANEGAS, O, LUCARINI, L, PIETRONI, V, URTIZBEREA, A, BEN YAOU, R, DE VISSER, M, VAN DER KOOI, A. J

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P425 Inhibition of TGFβ signaling pathway as a therapeutic approach in collagen VI-related muscular dystrophy von Mohassel, P., Hearn, H., Zou, Y., Rooney, J., Bönnemann, C.

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