Clinical features of facioscapulohumeral muscular dystrophy 2 von DE GREEF, J. C, LEMMERS, R. J. L. F, DESNUELLE, C, SPULER, S, TARNOPOLSKY, M, VENANCE, S. L, FRANTS, R. R, VAN DER MAAREL, S. M, TAWIL, R, CAMANO, P, DAY, J. W, SACCONI, S, DUNAND, M, VAN ENGELEN, B. G. M, KIURU-ENARI, S, PADBERG, G. W, ROSA, A. L

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Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging von Giacomucci, G., Monforte, M., Diaz‐Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J., Van Engelen, B., Ricci, E., Tasca, G.

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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe von Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., Laforêt, P., van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J.

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CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population von Otaegui, D, Sáenz, A, Camaño, P, Blázquez, L, Goicoechea, M, Ruíz-Martínez, J, Olaskoaga, J, Emparanza, J A, de Munain, A López

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G.O.4 von van den Boogaard, T.L, Lemmers, R.J.L, Camano, P, van der Vliet, P.J, Balog, J, Voermans, N, Tapscott, S.J, de Munain, A.L, Tawil, R, Bakker, B, Maarel, S.M

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Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect von Sistiaga, A., Camaño, P., Otaegui, D., Ibáñez, B., Ruiz‐Martinez, J., Martí‐Massó, J. F., López de Munain, A.

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O.19 Facioscapulohumeral muscular dystrophy: Muscle running out of control von Lemmers, R.J.L, van der Vliet, P.J, Sacconi, S, Camano, P, Snider, L, Geng, L, van Ommen, G.J, Padberg, G.W, Miller, D.G, Tapscott, S.J, Frants, R.R, van der Maarel, S.M

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene von Sáenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camaño, P., Urtasun, M., Vílchez, J., Gutiérrez-Rivas, E., Emparanza, J., Merlini, L., Paisán, C., Goicoechea, M., Blázquez, L., Eymard, B., Lochmuller, H., Walter, M., Bonnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Martí-Massó, J. F., de Munain, A. López

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Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA von MANCUSO, M, SALVIATI, L, GARCIA-ALVAREZ, M, MONZON, L, NAINI, A. B, HIRANO, M, BONILLA, E, TARATUTO, A. L, DIMAURO, S, VU, T. H, SACCONI, S, OTAEGUI, D, CAMANO, P, MARINA, A, BACMAN, S, MORAES, C. T, CARLO, J. R, GARCIA, M

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X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 von Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio

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G.P.7.09 Study of the D4Z4 methylation level at chromosome 4 in Spanish patients with FSHD phenotype and negative molecular diagnosis von Camano, P, Zuriarrain, O, de Greef, J, Poze, J, Marquez, C, Lopez de Munain, A

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G.P.7.10 Clinical and genetic characterization of a new X-linked dominant scapuloperoneal myopathy von Quinzii, C, Bonilla, E, Vu, T, Grewal, R, Tanji, K, Kattah, A, Camano, P, Otaegui, D, Blake, D, Wilhelmsen, K, Rowland, L, Hays, A, Hirano, M

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Mitochondrial DNA depletion and dGK gene mutations von Salviati, Leonardo, Sacconi, Sabrina, Mancuso, Michelangelo, Otaegui, David, Camaño, Pilar, Marina, Alberto, Rabinowitz, Simon, Shiffman, Rebecca, Thompson, Karen, Wilson, Claire M., Feigenbaum, Annette, Naini, Ali B., Hirano, Michio, Bonilla, Eduardo, DiMauro, Salvatore, Vu, Tuan H.

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G.O.4: The SMCHD1 mutation spectrum in FSHD2: Novel insight in clinical variability in FSHD von van den Boogaard, T.L., Lemmers, R.J.L., Camano, P., van der Vliet, P.J., Balog, J., Voermans, N., Tapscott, S.J., de Munain, A.L., Tawil, R., Bakker, B., Maarel, S.M.

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259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021 von van den Bersselaar, LR, Riazi, S, Snoeck, MMJ, Jungbluth, H, Voermans, NC, Bastian, Börge, van den Bersselaar, Luuk R., Cornel, Martina, Cambronero, Oscar Díaz, Dietrich, Klaus, van Esch, Charlotte, Forzano, Francesca, Gillies, Robyn, Hellblom, Anna, Heytens, Luc, Hopkins, Phil, Johannsen, Stephan, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Klein, Andrea, Litman, Ron, Løkken, Nicoline, Münster, Tino, Reimann, Jens, Rendu, John, Riazi, Sheila, Rueffert, Henrik, Silva, Helga CA, Snoeck, Marc MJ, Soller, Maria, Stowell, Kathryn, Tasca, Giorgio, Veyckemans, Francis, Vilchez, Juan Jesus, Voermans, Nicol C.

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P.306Multicentric MRI study in a cohort of FSHD2 patients: pattern definition and differences between FSHD1 and FSHD2 von Tasca, G., Giacomucci, G., Monforte, M., Diaz-Manera, J., Mul, K., Fernandez Torron, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J., Haberlova, J., Camaño Gonzalez, P., Gros, M., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J., Van Engelen, B., Ricci, E.

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G.P.7.01 Facioscapulohumeral muscular dystrophy: A review of 76 patients von Gomez-Moreno, M., Carnal-Martin, P., Camaño, P., Alonso-Ortiz, A., Gutierrez-Rivas, E.

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A unifying genetic model for facioscapulohumeral muscular dystrophy von Lemmers, R.J.L.F., Vliet, P.J. van der, Klooster, R., Sacconi, S., Camano, P., Dauwerse, J.G., Snider, L., Straasheijm, K.R., Ommen, G.J. van, Padberg, G.W., Miller, D.G., Tapscott, S.J., Tawil, R., Frants, R.R., Maarel, S.M. van der

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G.P.7.01 Facioscapulohumeral muscular dystrophy: A review of 76 patients von Gomez-Moreno, M, Carnal-Martin, P, Camaño, P, Alonso-Ortiz, A, Gutierrez-Rivas, E

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Data assimilation in atmospheric chemistry models: current status and future prospects for coupled chemistry meteorology models von Bocquet, M, Elbern, H, Eskes, H, Hirtl, M, Žabkar, R, Carmichael, G. R, Flemming, J, Inness, A, Pagowski, M, Pérez Camaño, J. L, Saide, P. E, San Jose, R, Sofiev, M, Vira, J, Baklanov, A, Carnevale, C, Grell, G, Seigneur, C

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