Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies von Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations von Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations von Rodríguez Cruz, Pedro M, Cossins, Judith, de Paula Estephan, Eduardo, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David

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Quaestiones grammaticae in Ciceronis libros oratorios von Lochmüller, Hans, 1870

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Scientific Business Abstracts von Cooles, Faye, Vidal-Pedrola, Gemma, Naamane, Najib, Pratt, Arthur, Barron-Millar, Ben, Anderson, Amy, Hilkens, Catharien, Casement, John, Bondet, Vincent, Duffy, Darragh, Zhang, Fan, Shukla, Ruchi, Isaacs, John, Little, Martin, Payne, Miranda, Coupe, Nicholas, Fairfax, Benjamin, Taylor, Chelsea Alice, Mackay, Sophie, Milotay, Gusztav, Bos, Saskia, Hunter, Bethany, Mcdonald, David, Merces, George, Sheldon, Georgia, Pradère, Pauline, Majo, Joaquim, Pulle, Julian, Vanstapel, Arno, Vanaudenaerde, Bart M, Vos, Robin, Filby, Andrew J, Fisher, Andrew J, Collier, Jack, Lambton, James, Suomi, Fumi, Prigent, Magali, Guissart, Claire, Erskine, Daniel, Rozanska, Agata, Mccorvie, Thomas, Trimouille, Aurélien, Imam, Aliza, Hobson, Emma, Mccullagh, Helen, Frengen, Eirik, Misceo, Doriana, Bjerre, Anna, Smeland, Marie, Klingenberg, Claus, Alkuraya, Fowzan, Mcfarland, Robert, Alston, Charlotte, Yue, Wyatt, Legouis, Renaud, Koenig, Michel, Lako, Majlinda, Mcwilliams, Thomas, Oláhová, Monika, Taylor, Rob, Newman, William, Harkness, Rob, McDermott, John, Metcalfe, Kay, Khan, Naz, Macken, William, Pitceathly, Robert, Record, Christopher, Maroofian, Reza, Sabir, Ataf, Santra, Saikat, Urquhart, Jill, Demain, Leigh, Byers, Helen, Beaman, Glenda, Taylor, Robert, Durmusalioglu, Enise, Atik, Tahir, Isik, Esra, Cogulu, Ozgur, Reunert, Janine, Marquardt, Thorsten, Ryba, Lukas, Buchert-Lo, Rebecca, Haack, Tobias, Lassuthova, Petra, Polavarapu, Kiran, Lochmuller, Hans, Horvath, Rita, Jamieson, Peter, Reilly, Mary, O'Keefe, Ray, Boggan, Róisín, Ng, Yi Shiau, Franklin, Imogen, Blakely, Emma, Büchner, Boriana, Bugiardini, Enrico, Colclough, Kevin, Feeney, Catherine

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Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene von SARKOZY, Anna, WINDPASSINGER, Christian, BUSHBY, Kate, STRAUB, Volker, HUDSON, Judith, DOUGAN, Charlotte F, LECKY, Bryan, HILTON-JONES, David, EAGLE, Michelle, CHARLTON, Richard, BARRESI, Rita, LOCHMÜLLER, Hanns

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A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project von Jimenez-Moreno, Aura Cecilia, Pinto, Cathy Anne, Levitan, Bennett, Whichello, Chiara, Dyer, Christine, Van Overbeeke, Eline, de Bekker-Grob, Esther, Smith, Ian, Huys, Isabelle, Viberg Johansson, Jennifer, Adcock, Kate, Bullock, Kristin, Soekhai, Vikas, Yuan, Zhong, Lochmuller, Hanns, de Wit, Ardine, Gorman, Grainne S

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations von Rodríguez Cruz, Pedro M, Cossins, Judith, De Paula Estephan, Eduardo, Munell Casadesus, Francina, Selby, KKathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahid, Chow, Gabriel, Carr, Aislin, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacòs-Viñola, Margarida, Macaya Ruiz, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David, Universitat Autònoma de Barcelona

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations von Rodríguez Cruz, Pedro M, Cossins, Judith, De Paula Estephan, Eduardo, Munell Casadesus, Francina, Selby, KKathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahid, Chow, Gabriel, Carr, Aislin, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacòs-Viñola, Margarida, Macaya Ruiz, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David, Universitat Autònoma de Barcelona

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Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) von Horváth, R, Klopstock, Thomas, Jaksch, M, Holinski-Feder, E, Abicht, Angela, Lochmüller, Hans, Laner, A, Gempel, K, Prokisch, H

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A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project [version 1; peer review: 1 approved] von Jimenez-Moreno, Aura Cecilia, Pinto, Cathy Anne, Levitan, Bennett, Whichello, Chiara, Dyer, Christine, van Overbeeke, Eline, de Bekker-Grob, Esther, Smith, Ian, Huys, Isabelle, Viberg, Jennifer, Adcock, Kate, Bullok, Kristin, Soekhai, Vikas, Yuan, Zhong, Lochmuller, Hans, de Wit, Ardine, Gorman, Gráinne S

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Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial von Walter, Maggie C

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The Equilibria of Reactions Catalyzed by Carboxytransphosphorylase, Carboxykinase, and Pyruvate Carboxylase and the Synthesis of Phosphoenolpyruvate von Wood, Harland G., Davis, Judith J., Lochmüller, Hans

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Phosphoenolpyruvate Carboxytransphosphorylase von Hans Lochmüller, Harland G. Wood, Judith J. Davis

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene von Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita

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SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human von Phan, Vietxuan, Cox, Dan, Cipriani, Silvia, Spendiff, Sally, Buchkremer, Stephan, O'Connor, Emily, Horvath, Rita, Goebel, Hans Hilmar, Hathazi, Denisa, Lochmüller, Hanns, Straka, Tatjana, Rudolf, Rüdiger, Weis, Joachim, Roos, Andreas

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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene von Reilich, Peter, Horvath, Rita, Krause, Sabine, Schramm, Nicolai, Turnbull, Doug M., Trenell, Michael, Hollingsworth, Kieren G., Gorman, Grainne S., Hans, Volkmar H., Reimann, Jens, MacMillan, Andrée, Turner, Lesley, Schollen, Annette, Witte, Gregor, Czermin, Birgit, Holinski-Feder, Elke, Walter, Maggie C., Schoser, Benedikt, Lochmüller, Hanns

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Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial von Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren G, Lochmüller, Hanns, Catt, Michael, Faber, Catharina G, Hapca, Adrian, Donnan, Peter T, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Knoop, Hans, Treweek, Shaun, van Engelen, Baziel G M, Kierkegaard, Marie, Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren, Lochmüller, Hanns, Catt, Michael, Faber, Catharina, Hapca, Adrian, Donnan, Peter, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Knoop, Hans, Treweek, Shaun, van Engelen, Baziel, Maas, Daphne, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Klerks, Ellen, Bouman, Sacha, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Raaphorst, Joost, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaya, Antonio, Hogarth, Fiona, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolf, Martin, Jelinek, Anna, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Adam, Berit, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Merkies, Ingemar, Dittrich, Juliane

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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy von Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Schwersenz, Inge, Walter, Maggie C, Baumann, Matthias, Baumgartner, Manuela, Deschauer, Marcus, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Hahn, Andreas, Horber, Veronka, Husain, Ralf A, Illsinger, Sabine, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Vill, Katharina, Weiß, Claudia, Wiegand, Gert, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases von Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E. L. M., Schuele, Rebecca, Synofzik, Matthis, Topf, Ana, de Voer, Richarda M., Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A. C., Vitobello, Antonio, Schulze-Hentrich, Julia M., Riess, Olaf, Brunner, Han G., Brookes, Anthony J., Rath, Ana, Bonne, Gisele, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm

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