CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability von Deniz, E., Pasha, M., Guerra, M.E., Viviano, S., Ji, W., Konstantino, M., Jeffries, L., Lakhani, S.A., Medne, L., Skraban, C., Krantz, I., Khokha, M.K.

Volltext

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

Volltext

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.

Volltext

G.P.296 von Yum, S.W, Medne, L, Estilow, T, Glanzman, A, DiVito, D, Bönnemann, C.G

Volltext

Cardiomyopathy in patients with ACTA1 -myopathy von Donkervoort, S, Yang, M, Leach, M, Medne, L, Yum, S, Hotchkiss, L, Rutkowski, A, Chatfield, K, Auerbach, S, Miyamoto, S, Bönnemann, C

Volltext

STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia von Zaharieva, I, Sarkozy, A, Manzur, A, Munot, P, O’Grady, G, Rendu, J, Amthor, H, Servais, L, Malfatti, E, Dixon, J, Poke, G, Donkervoort, S, Foley, A.R, Neto, O.L.A, Davis, M.R, Urtizberea, J.A, Bastaki, L, Romero, N.B, Oates, E.C, Holmes, C, Williams, G, Sframeli, M, Yum, S, Medne, L, Roy, S.Q, Fauré, J, Feng, L, Morgan, J.E, Bönnemann, C.G, Phadke, R, Sewry, C.A, Treves, S, Muntoni, F

Volltext

G.P.99 von Estilow, T, Glanzman, A, Flickinger, J, Powers, K.M, Moll, A, Medne, L, Tennekoon, G, Yum, S.W

Volltext

G.P.239 von Medne, L, Bönnemann, C, Scherer, S, Finkel, R.S, Ortiz-Gonzalez, X, Glanzman, A, Estilow, T, Moll, A, Leshner, R, Wang, Y, Winder, T, Yum, S

Volltext

G.P.48 von Amburgey, K, Bailey, A, Hwang, J.H, Tarnopolsky, M.A, Bönnemann, C.G, Medne, L, Mathews, K.D, Collins, J, Daube, J.R, Wellman, G.P, Callaghan, B, Vajsar, J, Yoon, G, Cohn, R, Clarke, N.F, Dowling, J.J

Volltext

D.P.3 Ethical, social, legal implications of clinical and research genetic testing in the neuromuscular setting: A case study approach von Donkervoort, S, Medne, L, Schindler, A, Pappa, M.B, Bonnemann, C.G

Volltext

P.4.9 Variable clinical and histological features in severe congenital RYR1 associated myopathy von Santi, M, Medne, L, Bharucha-Goebel, D, Bonnemann, C, Dastgir, J, Zukosky, K, Shieh, P, Winder, T, Tennekoon, G, Finkel, R, Dowling, J, Monnier, N

Volltext

D.P.22 Muscle ultrasound as a consistent imaging marker for RYR1 related myopathies von Dastgir, J, Bharucha-Goebel, D, Medne, L, Donkervoort, S, Meilleur, K, Bonnemann, C.G

Volltext

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease von Chauveau, Claire, Bonnemann, Carsten G, Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A, Gotthardt, Michael, Samuels, Mark E, Gautel, Mathias, Ferreiro, Ana

Volltext

P2.13 Further characterization of the clinical and mutational spectrum of alpha-dystroglycanopathy caused by mutations in the LARGE gene von Meilleur, K.G, Medne, L, Hu, Y, Perkins, K, Powell-Hamilton, N, Finkel, R, Scavina, M, Bonnemann, C

Volltext

G.O.2 von Kreissl, M, Sandaradura, S.A, Dowling, J.J, Kostyukova, A.S, Moroz, N, Quinlan, K.G, Lehtokari, V, Ravenscroft, G, Todd, E.J, Ceyhan-Birsoy, O, Gokhin, D.S, Maluenda, J, Lek, M, Nolent, F, Pappas, C.T, Novak, S.M, D’Amico, A, Malfatti, E, Thomas, B.P, Gabriel, S.B, Gupta, N, Daly, M.J, Ilkovski, B, Houweling, P.J, Swanson, L.C, Brownstein, C.A, Gupta, V.A, Medne, L, Shannon, P, Flisberg, A, Holmberg, E, den Bergh, P. Van, Lapunzina, P, Waddell, L.B, Sloboda, D.D, Bertini, E, Chitayat, D, Telfer, W.R, Laquerrière, A, Gregorio, C.C, Ottenheijm, C.A.C, Bönnemann, C.G, Pelin, K, Beggs, A.H, Hayashi, Y.K, Romero, N.B, Laing, N.G, Nishino, I, Wallgren-Pettersson, C, Melki, J, Fowler, V.M, MacArthur, D.G, North, K.N, Clarke, N.F

Volltext

P236 Rod-less dystrophin may exert a dominant negative effect by interfering with utrophin's function von Gorokhova, S., Schessl, J., Zou, Y., Yang, M., Heydemann, P., Sufit, R., Meilleur, K., Donkervoort, S., Medne, L., Finkel, R., Bönnemann, C.

Volltext

P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness von Perkins, K.Z, Meilleur, K, Medne, L, Devoto, M, Tennekoon, G, Yum, S, Yang, M, Finkel, R, Johnson, J, Gibbs, J.R, Ferguson, T, Zou, Y, Traynor, B, Bonnemann, C

Volltext

P1.11 Large genomic deletions as a novel type of mutation in Ullrich CMD von Foley, A.R, Hu, Y, Zou, Y, Yang, M, Medne, L, Leach, M, Conlin, L, Spinner, N, Shaikh, T, Neumeyer, A.M, Bliss, L, Winder, T, Bönnemann, C.G

Volltext

G.P.13.04 In-frame deletion of the entire dystrophin rod domain prevents compensation by utrophin and causes an unusually severe muscular dystrophy von Schessl, J, Yang, M.L, Heydemann, P.T, Sufit, R.L, Medne, L, Attia, A, Finkel, R.S, Bönnemann, C.G

Volltext

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum von Boland, Elena, Clayton-Smith, Jill, Woo, Victoria G., McKee, Shane, Manson, Forbes D.C., Medne, Livija, Zackai, Elaine, Swanson, Eric A., Fitzpatrick, David, Millen, Kathleen J., Sherr, Elliott H., Dobyns, William B., Black, Graeme C.M.

Volltext