Early onset collagen VI myopathies: Genetic and clinical correlations
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
Published in Annals of neurology (01.10.2010)
Published in Annals of neurology (01.10.2010)
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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
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
Published in Brain (London, England : 1878) (01.12.2014)
Published in Brain (London, England : 1878) (01.12.2014)
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
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
Published in Acta neuropathologica communications (09.07.2022)
Published in Acta neuropathologica communications (09.07.2022)
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Creutzfeldt-Jakob Disease Surveillance in Argentina, 1997–2008
Begué, Christián, Martinetto, Horacio, Schultz, Marcelo, Rojas, Estefania, Romero, Carlos, D’Giano, Carlos, Sevlever, Gustavo, Somoza, Manuel, Taratuto, Ana Lia
Published in Neuroepidemiology (01.01.2011)
Published in Neuroepidemiology (01.01.2011)
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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
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
Published in Journal of neurology (01.10.2019)
Published in Journal of neurology (01.10.2019)
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Journal Article
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation
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
Published in European journal of medical genetics (01.07.2009)
Published in European journal of medical genetics (01.07.2009)
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Journal Article
A 36‐year‐old man with headache and fever
Riudavets, Miguel A., Lía Taratuto, Ana, Pelorosso, Facundo, Sevlever, Gustavo
Published in Brain pathology (Zurich, Switzerland) (01.07.2018)
Published in Brain pathology (Zurich, Switzerland) (01.07.2018)
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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
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
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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Journal Article
Pompe disease, the must-not-miss diagnosis: A report of 3 patients
Dubrovsky, Alberto, Corderi, Jose, Karasarides, Theodora, Taratuto, Ana Lia
Published in Muscle & nerve (01.04.2013)
Published in Muscle & nerve (01.04.2013)
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Journal Article
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
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
Published in Annals of neurology (01.12.2007)
Published in Annals of neurology (01.12.2007)
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Journal Article
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
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
Published in Journal of neuropathology and experimental neurology (01.12.2018)
Published in Journal of neuropathology and experimental neurology (01.12.2018)
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Journal Article
Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders
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
Published in Journal of neuropathology and experimental neurology (01.09.2013)
Published in Journal of neuropathology and experimental neurology (01.09.2013)
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Journal Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
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
Published in Acta neuropathologica communications (05.01.2019)
Published in Acta neuropathologica communications (05.01.2019)
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Journal Article
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
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
Published in Molecular genetics and metabolism reports (01.06.2021)
Published in Molecular genetics and metabolism reports (01.06.2021)
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Loss of heterozygosity at 1p-19q induces a global change in oligodendroglial tumor gene expression
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
Published in Journal of neuro-oncology (01.12.2009)
Published in Journal of neuro-oncology (01.12.2009)
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Journal Article
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
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
Published in Acta neuropathologica (01.04.2017)
Published in Acta neuropathologica (01.04.2017)
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Journal Article
Catherine Daumas-Duport, MD, PhD
De Girolami, Umberto, Chimelli, Leila, Taratuto, Ana Lia
Published in Journal of neuropathology and experimental neurology (01.01.2018)
Published in Journal of neuropathology and experimental neurology (01.01.2018)
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Journal Article
Catherine Daumas-Duport, MD, PhD: February 13, 1944–October 1, 2017
De Girolami, Umberto, Chimelli, Leila, Taratuto, Ana Lia
Published in Journal of neuropathology and experimental neurology (01.01.2018)
Published in Journal of neuropathology and experimental neurology (01.01.2018)
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Journal Article
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
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
Published in Acta neuropathologica communications (12.04.2014)
Published in Acta neuropathologica communications (12.04.2014)
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Journal Article
Bilateral foot-drop as predominant symptom in nebulin ( NEB ) gene related “core-rod” congenital myopathy
Malfatti, Edoardo, Monges, Soledad, Lehtokari, Vilma-Lotta, Schaeffer, Ursula, Abath Neto, Osorio, Kiiski, Kirsi, Lubieniecki, Fabiana, Taratuto, Ana Lía, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
Published in European journal of medical genetics (01.10.2015)
Published in European journal of medical genetics (01.10.2015)
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