Early onset collagen VI myopathies: Genetic and clinical correlations von Briñas, Laura, Richard, Pascale, Quijano-Roy, Susana, Gartioux, Corine, Ledeuil, Céline, Lacène, Emmanuelle, Makri, Samira, Ferreiro, Ana, Maugenre, Svetlana, Topaloglu, Haluk, Haliloglu, Göknur, Pénisson-Besnier, Isabelle, Jeannet, Pierre-Yves, Merlini, Luciano, Navarro, Carmen, Toutain, Annick, Chaigne, Denys, Desguerre, Isabelle, de Die-Smulders, Christine, Dunand, Murielle, Echenne, Bernard, Eymard, Bruno, Kuntzer, Thierry, Maincent, Kim, Mayer, Michèle, Plessis, Ghislaine, Rivier, François, Roelens, Filip, Stojkovic, Tanya, Lía Taratuto, Ana, Lubieniecki, Fabiana, Monges, Soledad, Tranchant, Christine, Viollet, Louis, Romero, Norma B., Estournet, Brigitte, Guicheney, Pascale, Allamand, Valérie

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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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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies von Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B

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Creutzfeldt-Jakob Disease Surveillance in Argentina, 1997–2008 von Begué, Christián, Martinetto, Horacio, Schultz, Marcelo, Rojas, Estefania, Romero, Carlos, D’Giano, Carlos, Sevlever, Gustavo, Somoza, Manuel, Taratuto, Ana Lia

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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes von Berardo, Andrés, Lornage, Xavière, Johari, Mridul, Evangelista, Teresinha, Cejas, Claudia, Barroso, Fabio, Dubrovsky, Alberto, Bui, Mai Thao, Brochier, Guy, Saccoliti, Maria, Bohm, Johann, Udd, Bjarne, Laporte, Jocelyn, Romero, Norma Beatriz, Taratuto, Ana Lia

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A 36‐year‐old man with headache and fever von Riudavets, Miguel A., Lía Taratuto, Ana, Pelorosso, Facundo, Sevlever, Gustavo

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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies von Ávila-Polo, Rainiero, Malfatti, Edoardo, Lornage, Xavière, Cheraud, Chrystel, Nelson, Isabelle, Nectoux, Juliette, Böhm, Johann, Schneider, Raphaël, Hedberg-Oldfors, Carola, Eymard, Bruno, Monges, Soledad, Lubieniecki, Fabiana, Brochier, Guy, Thao Bui, Mai, Madelaine, Angeline, Labasse, Clémence, Beuvin, Maud, Lacène, Emmanuelle, Boland, Anne, Deleuze, Jean-François, Thompson, Julie, Richard, Isabelle, Taratuto, Ana Lía, Udd, Bjarne, Leturcq, France, Bonne, Gisèle, Oldfors, Anders, Laporte, Jocelyn, Romero, Norma Beatriz

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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome von KRIEGER, Michael, ROOS, Andreas, FINKEL, Richard S, GOEBEL, Hans H, HÄUSSLER, Martin, KINGSTON, Helen, KIRSCHNER, Janbernd, MEDNE, Livija, MUSCHKE, Petra, RIVIER, François, RUDNIK-SCHÖNEBORN, Sabine, SPENGLER, Sabrina, STENDEL, Claudia, INZANA, Francesca, STANZIAL, Franco, BENEDICENTI, Francesco, SYNOFZIK, Matthis, TARATUTO, Ana Lia, PIRRA, Laura, TAY STACEY, Kiat-Hong, TOPALOGLU, Haluk, UYANIK, Gökhan, WAND, Dorothea, CLAEYS, Kristl G, WILLIAMS, Denise, ZERRES, Klaus, WEIS, Joachim, SENDEREK, Jan, SONMEZ, Fatma Mujgan, BAUDIS, Michael, BAUER, Peter, BORNEMANN, Antje, DE GOEDE, Christian, DUFKE, Andreas

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Pompe disease, the must-not-miss diagnosis: A report of 3 patients von Dubrovsky, Alberto, Corderi, Jose, Karasarides, Theodora, Taratuto, Ana Lia

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Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset von Bitoun, Marc, Bevilacqua, Jorge A., Prudhon, Bernard, Maugenre, Svetlana, Taratuto, Ana Lia, Monges, Soledad, Lubieniecki, Fabiana, Cances, Claude, Uro-Coste, Emmanuelle, Mayer, Michèle, Fardeau, Michel, Romero, Norma B., Guicheney, Pascale

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POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation von Yanagisawa, Akiko, Bouchet, Céline, Quijano-Roy, Susana, Vuillaumier-Barrot, Sandrine, Clarke, Nigel, Odent, Sylvie, Rodriguez, Diana, Romero, Norma B, Osawa, Makiko, Endo, Tamao, Lia, Taratuto Ana, Seta, Nathalie, Guicheney, Pascale

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies von Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz

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Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders von Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz

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Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients von Loos, Mariana Amina, Gomez, Gimena, Mayorga, Lía, Caraballo, Roberto Horacio, Eiroa, Hernán Diego, Obregon, María Gabriela, Rugilo, Carlos, Lubieniecki, Fabiana, Taratuto, Ana Lía, Saccoliti, María, Alonso, Cristina Noemi, Aráoz, Hilda Verónica

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy von Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lía, Böhm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., Laporte, Jocelyn

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Loss of heterozygosity at 1p-19q induces a global change in oligodendroglial tumor gene expression von Ferrer-Luna, Rubén, Mata, Manuel, Núñez, Lina, Calvar, Jorge, Dasí, Francisco, Arias, Eugenia, Piquer, José, Cerdá-Nicolás, Miguel, Taratuto, Ana Lía, Sevlever, Gustavo, Celda, Bernardo, Martinetto, Horacio

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Catherine Daumas-Duport, MD, PhD von De Girolami, Umberto, Chimelli, Leila, Taratuto, Ana Lia

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Catherine Daumas-Duport, MD, PhD: February 13, 1944–October 1, 2017 von De Girolami, Umberto, Chimelli, Leila, Taratuto, Ana Lia

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Vasculitic Peripheral Neuropathy, differences between Systemic and Non-Systemic etiologies. (P2.4-008) von Castiglione, Juan, Marrodan, Mariano, Taratuto, Ana Lia, Alessandro, Lucas, Brand, Patricio, Barroso, Fabio Adrian

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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype von Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen A C, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B

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