The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders von Stinissen, Lizan, Bouma, Sietse, Böhm, Johann, van Tienen, Jeno, Fischer, Holger, Hughes, Zak, Lennox, Anne, Ward, Erin, Wood, Marie, Foley, A. Reghan, Oortwijn, Wija, Jungbluth, Heinz, Voermans, Nicol C.

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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy von Böhm, Johann, Bulla, Monica, Urquhart, Jill E., Malfatti, Edoardo, Williams, Simon G., O'Sullivan, James, Szlauer, Anastazja, Koch, Catherine, Baranello, Giovanni, Mora, Marina, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Kingston, Helen, Dawson, Timothy, DeGoede, Christian G., Nixon, John, Boland, Anne, Deleuze, Jean‐François, Romero, Norma, Newman, William G., Demaurex, Nicolas, Laporte, Jocelyn

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Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort von Gangfuß, Andrea, Goj, Guido, Polz, Silke, Della Marina, Adela, Hentschel, Andreas, Ahlbory, Katja, Deba, Timo, Kotzaeridou, Urania, Schuler, Elisabeth, Pechmann, Astrid, Diebold, Uta, Kurlemann, Gerhard, Heinzkyll, Lucas, Schmitt, Dirk, Rostasy, Kevin, Ruck, Tobias, Böhm, Johann, Roos, Andreas, Schara-Schmidt, Ulrike

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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy von Böhm, Johann, Chevessier, Frédéric, De Paula, André Maues, Koch, Catherine, Attarian, Shahram, Feger, Claire, Hantaï, Daniel, Laforêt, Pascal, Ghorab, Karima, Vallat, Jean-Michel, Fardeau, Michel, Figarella-Branger, Dominique, Pouget, Jean, Romero, Norma B., Koch, Marc, Ebel, Claudine, Levy, Nicolas, Krahn, Martin, Eymard, Bruno, Bartoli, Marc, Laporte, Jocelyn

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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 von Böhm, Johann, Chevessier, Frédéric, Koch, Catherine, Peche, G Arielle, Mora, Marina, Morandi, Lucia, Pasanisi, Barbara, Moroni, Isabella, Tasca, Giorgio, Fattori, Fabiana, Ricci, Enzo, Pénisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Fardeau, Michel, Joshi, Pushpa Raj, Deschauer, Marcus, Romero, Norma Beatriz, Eymard, Bruno, Laporte, Jocelyn

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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study von Reumers, Stacha F.I., Braun, Frederik, Spillane, Jennifer E., Böhm, Johann, Pennings, Maartje, Schouten, Meyke, van der Kooi, Anneke J., Foley, A. Reghan, Bönnemann, Carsten G., Kamsteeg, Erik-jan, Erasmus, Corrie E., Schara-Schmidt, Ulrike, Jungbluth, Heinz, Voermans, Nicol C.

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations von BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan

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Next generation sequencing for molecular diagnosis of neuromuscular diseases von Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn

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Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy von Böhm, Johann, Vasli, Nasim, Maurer, Marie, Cowling, Belinda S, Cowling, Belinda, Shelton, G Diane, Kress, Wolfram, Toussaint, Anne, Prokic, Ivana, Schara, Ulrike, Anderson, Thomas James, Weis, Joachim, Tiret, Laurent, Laporte, Jocelyn

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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era von Bui, Mai Thao, Fernández-Eulate, Gorka, Evangelista, Teresinha, Lacène, Emmanuelle, Brochier, Guy, Labasse, Clémence, Madelaine, Angéline, Chanut, Anaïs, Beuvin, Maud, Borsato-Levy, Favienne, Biancalana, Valérie, Barcia, Giulia, De Lonlay, Pascale, Laporte, Jocelyn, Böhm, Johann, Romero, Norma Beatriz

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Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene von Romero, Norma B, Xie, Ting, Malfatti, Edoardo, Schaeffer, Ursula, Böhm, Johann, Wu, Bin, Xu, Fengping, Boucebci, Samy, Mathis, Stéphane, Neau, Jean-Philippe, Monnier, Nicole, Fardeau, Michel, Laporte, Jocelyn

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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers von Beggs, Alan H., Böhm, Johann, Snead, Elizabeth, Kozlowski, Marek, Maurer, Marie, Minor, Katie, Childers, Martin K., Taylor, Susan M., Hitte, Christophe, Mickelson, James R., Guo, Ling T., Mizisin, Andrew P., Buj-Bello, Anna, Tiret, Laurent, Laporte, Jocelyn, Shelton, G. Diane, Kunkel, Louis M.

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Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome von Peche, Georges Arielle, Spiegelhalter, Coralie, Silva‐Rojas, Roberto, Laporte, Jocelyn, Böhm, Johann

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Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy von Koutsopoulos, Olga S, Koch, Catherine, Tosch, Valerie, Böhm, Johann, North, Kathryn N, Laporte, Jocelyn

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SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway von Böhm, Johann, Sustmann, Claudio, Wilhelm, Christian, Kohlhase, Jürgen

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Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome von Koutsopoulos, Olga S, Kretz, Christine, Weller, Claudia M, Roux, Aurelien, Mojzisova, Halina, Böhm, Johann, Koch, Catherine, Toussaint, Anne, Heckel, Emilie, Stemkens, Daphne, Ter Horst, Simone A J, Thibault, Christelle, Koch, Muriel, Mehdi, Syed Q, Bijlsma, Emilia K, Mandel, Jean-Louis, Vermot, Julien, Laporte, Jocelyn

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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy von Gangfuß, Andrea, Rating, Philipp, Ferreira, Tomas, Hentschel, Andreas, Marina, Adela Della, Kölbel, Heike, Sickmann, Albert, Abicht, Angela, Kraft, Florian, Ruck, Tobias, Böhm, Johann, Schänzer, Anne, Schara-Schmidt, Ulrike, Neuhann, Teresa M., Horvath, Rita, Roos, Andreas

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Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice von Böhm, Johann, Buck, Anja, Borozdin, Wiktor, Mannan, Ashraf U, Matysiak-Scholze, Uta, Adham, Ibrahim, Schulz-Schaeffer, Walter, Floss, Thomas, Wurst, Wolfgang, Kohlhase, Jürgen, Barrionuevo, Francisco

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A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia von Bohlen, Anna E., Böhm, Johann, Pop, Ramona, Johnson, Diana S., Tolmie, John, Stücker, Ralf, Morris‐Rosendahl, Deborah, Scherer, Gerd

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Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype von VASLI, Nasim, LAUGEL, Vincent, BÖHM, Johann, LANNES, Béatrice, BIANCALANA, Valérie, LAPORTE, Jocelyn

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