Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model von Yang, Taihua, Poenisch, Marion, Khanal, Rajendra, Hu, Qingluan, Dai, Zhen, Li, Ruomeng, Song, Guangqi, Yuan, Qinggong, Yao, Qunyan, Shen, Xizhong, Taubert, Richard, Engel, Bastian, Jaeckel, Elmar, Vogel, Arndt, Falk, Christine S., Schambach, Axel, Gerovska, Daniela, Araúzo-Bravo, Marcos J., Vondran, Florian W.R., Cantz, Tobias, Horscroft, Nigel, Balakrishnan, Asha, Chevessier, Frédéric, Ott, Michael, Sharma, Amar Deep

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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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Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance von Gurniak, Christine B., Chevessier, Frédéric, Jokwitz, Melanie, Jönsson, Friederike, Perlas, Emerald, Richter, Hendrik, Matern, Gabi, Boyl, Pietro Pilo, Chaponnier, Christine, Fürst, Dieter, Schröder, Rolf, Witke, Walter

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Treadmill exercise intervention improves gait and postural control in alpha-synuclein mouse models without inducing cerebral autophagy von Minakaki, Georgia, Canneva, Fabio, Chevessier, Frédéric, Bode, Frederik, Menges, Stefanie, Timotius, Ivanna K., Kalinichenko, Liubov S., Meixner, Holger, Müller, Christian P., Eskofier, Bjoern M., Casadei, Nicolas, Riess, Olaf, Schröder, Rolf, Winkler, Jürgen, Xiang, Wei, von Hörsten, Stephan, Klucken, Jochen

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Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation von Brande, Laura, Bauché, Stéphanie, Pérez‐Guàrdia, Laura, Sternberg, Damien, Seferian, Andreea M., Malfatti, Edoardo, Silva‐Rojas, Roberto, Labasse, Clémence, Chevessier, Frédéric, Carlier, Pierre, Eymard, Bruno, Romero, Norma B., Laporte, Jocelyn, Servais, Laurent, Gidaro, Teresa, Böhm, Johann

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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy von Böhm, Johann, Lornage, Xavière, Chevessier, Frederic, Birck, Catherine, Zanotti, Simona, Cudia, Paola, Bulla, Monica, Granger, Florence, Bui, Mai Thao, Sartori, Maxime, Schneider-Gold, Christiane, Malfatti, Edoardo, Romero, Norma B., Mora, Marina, Laporte, Jocelyn

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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation von Schuld, Julia, Orfanos, Zacharias, Chevessier, Frederic, Eggers, Britta, Heil, Lorena, Uszkoreit, Julian, Unger, Andreas, Kirfel, Gregor, van der Ven, Peter F. M., Marcus, Katrin, Linke, Wolfgang A., Clemen, Christoph S., Schroeder, Rolf, Fuerst, Dieter O.

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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients von Molenaar, Joery P., Verhoeven, Jamie I., Rodenburg, Richard J., Kamsteeg, Erik J., Erasmus, Corrie E., Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Pereon, Yann, Brandom, Barbara W., Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frederic, Mathieu, Jean, Franques, Jerome, Suetterlin, Karen, Hanna, Michael G., Guyant-Marechal, Lucie, Snoeck, Marc M., Roberts, Mark E., Kuntzer, Thierry, Fernandez-Torron, Roberto, Martinez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G., Eymard, Bruno, Voermans, Nicol C., Sternberg, Damien

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Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice von Cacicedo, Maximiliano L., Weinl-Tenbruck, Christine, Frank, Daniel, Limeres, Maria Jose, Wirsching, Sebastian, Hilbert, Katja, Pasha Famian, Mansure Abdollah, Horscroft, Nigel, Hennermann, Julia B., Zepp, Fred, Chevessier-Tünnesen, Frédéric, Gehring, Stephan

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Myofibrillar instability exacerbated by acute exercise in filaminopathy von Chevessier, Frédéric, Schuld, Julia, Orfanos, Zacharias, Plank, Anne-C, Wolf, Lucie, Maerkens, Alexandra, Unger, Andreas, Schlötzer-Schrehardt, Ursula, Kley, Rudolf A, Von Hörsten, Stephan, Marcus, Katrin, Linke, Wolfgang A, Vorgerd, Matthias, van der Ven, Peter F M, Fürst, Dieter O, Schröder, Rolf

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MUSK, a new target for mutations causing congenital myasthenic syndrome von Chevessier, Frédéric, Faraut, Brice, Ravel-Chapuis, Aymeric, Richard, Pascale, Gaudon, Karen, Bauché, Stéphanie, Prioleau, Cassandra, Herbst, Ruth, Goillot, Evelyne, Ioos, Christine, Azulay, Jean-Philippe, Attarian, Shahram, Leroy, Jean-Paul, Fournier, Emmanuel, Legay, Claire, Schaeffer, Laurent, Koenig, Jeanine, Fardeau, Michel, Eymard, Bruno, Pouget, Jean, Hantaï, Daniel

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Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function von Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel

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Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy von Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacène, Emmanuelle, Romero, Norma, Koenig, Jeanine, Fournier, Emmanuel, Hantaï, Daniel, Streichenberger, Nathalie, Manel, Veronique, Lacour, Arnaud, Nadaj-Pakleza, Aleksandra, Sukno, Sylvie, Bouhour, Françoise, Laforêt, Pascal, Fontaine, Bertrand, Strochlic, Laure, Eymard, Bruno, Chevessier, Frédéric, Stojkovic, Tanya, Nicole, Sophie

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mRNA as a Novel Treatment Strategy for Hereditary Spastic Paraplegia Type 5 von Hauser, Stefan, Poenisch, Marion, Schelling, Yvonne, Höflinger, Philip, Schuster, Stefanie, Teegler, Axel, Betten, Rabea, Gustafsson, Jan-Åke, Hübener-Schmid, Jeannette, Schlake, Thomas, Chevessier-Tünnesen, Frédéric, Horscroft, Nigel, Björkhem, Ingemar, Schöls, Ludger

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C9ORF72‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle von Türk, Matthias, Haaker, Gerrit, Winter, Lilli, Just, Walter, Nickel, Florian T., Linker, Ralf A., Chevessier, Frédéric, Schröder, Rolf

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A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation von Chevessier, Frédéric, Peter, Christoph, Mersdorf, Ulrike, Girard, Emmanuelle, Krejci, Eric, McArdle, Joseph J, Witzemann, Veit

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A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions von Chevessier, Frédéric, Girard, Emmanuelle, Molgó, Jordi, Bartling, Sönke, Koenig, Jeanine, Hantaï, Daniel, Witzemann, Veit

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Atypical nuclear abnormalities in a patient with Brody disease von Mussini, Jean-Marie, Magot, Armelle, Hantaï, Daniel, Sternberg, Damien, Chevessier, Frédéric, Péréon, Yann

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Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation von Türk, Matthias, Wehnert, Manfred, Schröder, Rolf, Chevessier, Frédéric

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