Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Gómez‐García de la Banda, Marta, Amaddeo, Alessandro, Khirani, Sonia, Pruvost, Sandrine, Barnerias, Christine, Dabaj, Ivana, Bénézit, Audrey, Durigneux, Julien, Carlier, Robert Y., Desguerre, Isabelle, Quijano‐Roy, Susana, Fauroux, Brigitte
Published in Pediatric pulmonology (01.01.2021)
Published in Pediatric pulmonology (01.01.2021)
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Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement
Kang, Peter B., McMillan, Hugh J., Kuntz, Nancy L., Lehky, Tanya J., Alter, Katharine E., Fitzpatrick, Kevin F., El Kosseifi, Charbel, Quijano‐Roy, Susana
Published in Muscle & nerve (01.02.2020)
Published in Muscle & nerve (01.02.2020)
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva, Irina T., Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, O'Grady, Gina, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Urtizberea, J. Andoni, Neto, Osorio Abath, Zanoteli, Edmar, Donkervoort, Sandra, Taylor, Juliet, Dixon, Joanne, Poke, Gemma, Foley, A. Reghan, Holmes, Chris, Williams, Glyn, Holder, Muriel, Yum, Sabrina, Medne, Livija, Quijano‐Roy, Susana, Romero, Norma B., Fauré, Julien, Feng, Lucy, Bastaki, Laila, Davis, Mark R., Phadke, Rahul, Sewry, Caroline A., Bönnemann, Carsten G., Jungbluth, Heinz, Bachmann, Christoph, Treves, Susan, Muntoni, Francesco
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Web Resource
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
Gómez‐Andrés, David, Díaz, Jorge, Munell, Francina, Sánchez‐Montáñez, Ángel, Pulido‐Valdeolivas, Irene, Suazo, Lionel, Garrido, Cristián, Quijano‐Roy, Susana, Bevilacqua, Jorge A.
Published in Muscle & nerve (01.04.2019)
Published in Muscle & nerve (01.04.2019)
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Journal Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy
Quijano-Roy, Susana, Mbieleu, Blaise, Bönnemann, Carsten G., Jeannet, Pierre-Yves, Colomer, Jaume, Clarke, Nigel F., Cuisset, Jean-Marie, Roper, Helen, De Meirleir, Linda, D'Amico, Adele, Ben Yaou, Rabah, Nascimento, Andrés, Barois, Annie, Demay, Laurence, Bertini, Enrico, Ferreiro, Ana, Sewry, Caroline A., Romero, Norma B., Ryan, Monique, Muntoni, Francesco, Guicheney, Pascale, Richard, Pascale, Bonne, Gisèle, Estournet, Brigitte
Published in Annals of neurology (01.08.2008)
Published in Annals of neurology (01.08.2008)
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Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Germain, Dominique P., Richard, Pascale, Bulacio, Sebastian, Mompoint, Dominique, Quijano-Roy, Susana
Published in Muscle & nerve (01.11.2015)
Published in Muscle & nerve (01.11.2015)
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Journal Article
Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement
Dabaj, Ivana, Carlier, Robert Y, Gómez‐Andrés, David, Neto, Osório Abath, Bertini, Enrico, D'amico, Adele, Fattori, Fabiana, PéRéon, Yann, Castiglioni, Claudia, Rodillo, Eliana, Catteruccia, Michela, Guimarães, júlio Brandão, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean‐François, Malfatti, Edoardo, Bonnemann, Carsten, Laporte, Jocelyn, Romero, Norma, Felter, Adrien, Quijano‐Roy, Susana, Moreno, Cristiane Araújo Martins, Zanoteli, Edmar
Published in Muscle & nerve (01.08.2018)
Published in Muscle & nerve (01.08.2018)
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Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
Proud, Crystal M., Mercuri, Eugenio, Finkel, Richard S., Kirschner, Janbernd, De Vivo, Darryl C., Muntoni, Francesco, Saito, Kayoko, Tizzano, Eduardo F., Desguerre, Isabelle, Quijano‐Roy, Susana, Benguerba, Kamal, Raju, Dheeraj, Faulkner, Eric, Servais, Laurent
Published in Annals of clinical and translational neurology (01.11.2023)
Published in Annals of clinical and translational neurology (01.11.2023)
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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up
GóMez‐Andrés, David, Díaz‐Manera, Jordi, Alejaldre, Aida, Pulido‐Valdeolivas, Irene, GonzáLez‐mera, Laura, Olivé, Montse, Vilchez, Juan José, De Munain, Adolfo LóPez, Paradas, Carmen, Muelas, Nuria, SáNchez‐MontáÑez, Ángel, Alonso‐Jimenez, Alicia, De la banda, Marta Gómez García, Dabaj, Ivana, Bonne, Gisèle, Munell, Francina, Carlier, Robert Y., Quijano‐Roy, Susana
Published in Muscle & nerve (01.12.2018)
Published in Muscle & nerve (01.12.2018)
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Journal Article
CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
Carrera‐García, Laura, Natera‐de Benito, Daniel, Dieterich, Klaus, Banda, Marta G. G., Felter, Adrien, Inarejos, Emili, Codina, Anna, Jou, Cristina, Roldan, Monica, Palau, Francesc, Hoenicka, Janet, Pijuan, Jordi, Ortez, Carlos, Expósito‐Escudero, Jessica, Durand, Chantal, Nugues, Frédérique, Jimenez‐Mallebrera, Cecilia, Colomer, Jaume, Carlier, Robert Y., Lochmüller, Hanns, Quijano‐Roy, Susana, Nascimento, Andres
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Journal Article
Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood
Fayssoil, Abdallah, Chaffaut, Cendrine, Ogna, Adam, Stojkovic, Tanya, Lamothe, Laure, Mompoint, Dominique, Meng, Paris, Prigent, Helene, Clair, Bernard, Behin, Anthony, Laforet, Pascal, Bassez, Guillaume, Carlier, Robert, Orlikowski, David, Amthor, Helge, Quijano Roy, Susana, Crenn, Pascal, Chevret, Sylvie, Eymard, Bruno, Lofaso, Frederic, Annane, Djillali
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy
Pruvost, Sandrine, Gomez Garcia de la Banda, Marta, Quijano Roy, Susana, Izedaren, Fatima, Roche, Nicolas, Pouplin, Samuel
Published in Disability and rehabilitation (01.02.2024)
Published in Disability and rehabilitation (01.02.2024)
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Journal Article
Diagnostic approach to the congenital muscular dystrophies
Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N
Published in Neuromuscular disorders : NMD (01.04.2014)
Published in Neuromuscular disorders : NMD (01.04.2014)
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Conference Proceeding
Approach to the diagnosis of congenital myopathies
North, Kathryn N, Wang, Ching H, Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J, Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H, Sewry, Caroline, Laing, Nigel G, Bönnemann, Carsten G
Published in Neuromuscular disorders : NMD (01.02.2014)
Published in Neuromuscular disorders : NMD (01.02.2014)
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Conference Proceeding
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Audic, Frédérique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valérie, Pervillé, Anne, Testard, Hervé, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle
Published in Orphanet journal of rare diseases (12.06.2020)
Published in Orphanet journal of rare diseases (12.06.2020)
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Journal Article
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.
Published in Nature communications (19.05.2016)
Published in Nature communications (19.05.2016)
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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue, Emmanuelle, Dogan, Céline, De Antonio, Marie, Audic, Frédérique, Bach, Nathalie, Barnerias, Christine, Bellance, Rémi, Cances, Claude, Chabrol, Brigitte, Cuisset, Jean-Marie, Desguerre, Isabelle, Durigneux, Julien, Espil, Caroline, Fradin, Mélanie, Héron, Delphine, Isapof, Arnaud, Jacquin-Piques, Agnès, Journel, Hubert, Laroche-Raynaud, Cécile, Laugel, Vincent, Magot, Armelle, Manel, Véronique, Mayer, Michèle, Péréon, Yann, Perrier-Boeswillald, Julie, Peudenier, Sylviane, Quijano-Roy, Susana, Ragot-Mandry, Sylvie, Richelme, Christian, Rivier, François, Sabouraud, Pascal, Sarret, Catherine, Testard, Hervé, Vanhulle, Catherine, Walther-Louvier, Ulrike, Gherardi, Romain, Hamroun, Dalil, Bassez, Guillaume
Published in Neurology (19.02.2019)
Published in Neurology (19.02.2019)
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Journal Article
Natural history of pulmonary function in collagen VI-related myopathies
FOLEY, A. Reghan, QUIJANO-ROY, Susana, NORTH, Kathryn, RYAN, Monique M, RICHARD, Pascale, ALLAMAND, Valérie, HICKS, Debbie, LAMANDE, Shireen, YING HU, GUALANDI, Francesca, SUNGYOUNG AUH, MUNTONI, Francesco, COLLINS, James, BÖNNEMANN, Carsten G, STRAUB, Volker, MCCALLUM, Michelle, DECONINCK, Nicolas, MERCURI, Eugenio, PANE, Marika, D'AMICO, Adele, BERTINI, Enrico
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Mayer, Michèle, Maincent, Kim, Desguerre, Isabelle, Thémar-Noël, Christine, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent
Published in PloS one (02.02.2015)
Published in PloS one (02.02.2015)
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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Desguerre, Isabelle, Barrois, Rémi, Audic, Frédérique, Barnerias, Christine, Chabrol, Brigitte, Davion, Jean Baptiste, Durigneux, Julien, Espil-Taris, Caroline, Gomez-Garcia de la Banda, Marta, Guichard, Marine, Isapof, Arnaud, Nougues, Marie Christine, Laugel, Vincent, Le Goff, Laure, Mercier, Sandra, Pervillé, Anne, Richelme, Christian, Thibaud, Marie, Sarret, Catherine, Schweitzer, Cyril, Testard, Hervé, Trommsdorff, Valérie, Vanhulle, Catherine, Walther-Louvier, Ulrike, Altuzarra, Cécilia, Chouchane, Mondher, Ropars, Juliette, Quijano-Roy, Susana, Cances, Claude
Published in Orphanet journal of rare diseases (13.09.2024)
Published in Orphanet journal of rare diseases (13.09.2024)
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