Intraneural perineuriomas: diagnostic value of magnetic resonance neurography
León Cejas, Luciana, Binaghi, Daniela, Socolovsky, Mariano, Dubrovsky, Alberto, Pirra, Laura, Marchesoni, Cintia, Pardal, Ana, Monges, Soledad, Peretti, Gabriela, Taratuto, Ana L., Lubinieki, Fabiana, Reisin, Ricardo
Published in Journal of the peripheral nervous system (01.03.2018)
Published in Journal of the peripheral nervous system (01.03.2018)
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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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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes
Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia
Published in PloS one (25.03.2013)
Published in PloS one (25.03.2013)
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Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Punetha, Jaya, MS, Monges, Soledad, MD, Franchi, Maria Emilia, MD, Hoffman, Eric P., PhD, Cirak, Sebahattin, MD, Tesi-Rocha, Carolina, MD
Published in Pediatric neurology (01.02.2015)
Published in Pediatric neurology (01.02.2015)
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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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'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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A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy
Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Published in Annals of clinical and translational neurology (01.08.2023)
Published in Annals of clinical and translational neurology (01.08.2023)
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TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients
Cho, Tae-Joon, Matsumoto, Kazu, Fano, Virginia, Dai, Jin, Kim, Ok-Hwa, Chae, Jong Hee, Yoo, Won Joon, Tanaka, Yuji, Matsui, Yoshito, Takigami, Iori, Monges, Soledad, Zabel, Bernhard, Shimizu, Katsuji, Nishimura, Gen, Lausch, Ekkehart, Ikegawa, Shiro
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Scoliosis in spinal muscular atrophy: is the preoperative magnetic resonance imaging necessary?
Davies, Nestor Ricardo, Galaretto, Eduardo, Piantoni, Lucas, Remondino, Rodrigo Germán, Francheri Wilson, Ida Alejandra, Monges, María Soledad, Frank, Sofía, Bersusky, Ernesto Salomón, Tello, Carlos Alberto, Noel, Mariano Augusto
Published in Spine deformity (01.10.2020)
Published in Spine deformity (01.10.2020)
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Validation of the Pediatric Quality of Life Inventory™, Neuromuscular Module, version 3.0 in Spanish for Argentina
Mozzoni, Julieta, Gómez, Soledad, Monges, M Soledad, de Castro Pérez, M Fernanda, Méndez, Marina, Lemme, Paula, Avanza, Regina, Toobe, Marina, Paoletti, Leliz
Published in Archivos argentinos de pediatría (01.08.2021)
Published in Archivos argentinos de pediatría (01.08.2021)
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Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
Moreno, Cristiane Araújo Martins, Estephan, Eduardo de Paula, Fappi, Alan, Monges, Soledad, Lubieniecki, Fabiana, Lopes Abath Neto, Osório, Reed, Umbertina Conti, Donkervoort, Sandra, Harms, Matthew B., Bonnemann, Carsten, Zanoteli, Edmar
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia
Pinto, Miguel M., Monges, Soledad, Malfatti, Edoardo, Lubieniecki, Fabiana, Lornage, Xavière, Alias, Laura, Labasse, Clémence, Madelaine, Angéline, Fardeau, Michel, Laporte, Jocelyn, Tizzano, Eduardo F., Romero, Norma B.
Published in Muscle & nerve (01.01.2019)
Published in Muscle & nerve (01.01.2019)
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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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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
Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients
Neto, Osorio Abath, de Araújo Martins Moreno, Cristiane, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-Goebel, Diana Xerxes, Monges, Soledad, Lubieniecki, Fabiana, Collins, James, Medne, Līvija, Santi, Mariarita, Yum, Sabrina, Banwell, Brenda, Salort-Campana, Emmanuelle, Rendu, John, Fauré, Julien, Yis, Uluc, Eymard, Bruno, Cheraud, Chrystel, Schneider, Raphaël, Thompson, Julie, Lornage, Xaviere, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Reed, Umbertina Conti, Oliveira, Acary Souza Bulle, Biancalana, Valérie, Romero, Norma B, Bönemann, Carsten G, Laporte, Jocelyn, Zanoteli, Edmar
Published in Neuromuscular disorders : NMD (01.11.2017)
Published in Neuromuscular disorders : NMD (01.11.2017)
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Genotype-Phenotype correlation of SMN locus genes in Spinal Muscular Atrophy children from Argentina
Medrano, Sofía, Monges, Soledad, Gravina, Luis Pablo, Alías, Laura, Mozzoni, Julieta, Aráoz, Hilda Verónica, Bernal, Sara, Moresco, Angélica, Chertkoff, Lilien, Tizzano, Eduardo, M.D., Ph.D
Published in European journal of paediatric neurology (01.11.2016)
Published in European journal of paediatric neurology (01.11.2016)
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Journal Article
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, Buj-Bello, Ana, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma
Published in Acta neuropathologica communications (09.07.2022)
Published in Acta neuropathologica communications (09.07.2022)
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