Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1

por Lareau-Trudel, Emilie, Le Troter, Arnaud, Ghattas, Badih, Pouget, Jean, Attarian, Shahram, Bendahan, David, Salort-Campana, Emmanuelle
Publicado 2015

Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study

por Fatehi, Farzad, Salort-Campana, Emmanuelle, Le Troter, Arnaud, Lareau-Trudel, Emilie, Bydder, Mark, Fouré, Alexandre, Guye, Maxime, Bendahan, David, Attarian, Shahram
Publicado 2017

Correlation of Clinicoserologic and Pathologic Classifications of Inflammatory Myopathies: Study of 178 Cases and Guidelines for Diagnosis

por Fernandez, Carla, Bardin, Nathalie, De Paula, André Maues, Salort-Campana, Emmanuelle, Benyamine, Audrey, Franques, Jérôme, Schleinitz, Nicolas, Weiller, Pierre-Jean, Pouget, Jean, Pellissier, Jean-François, Figarella-Branger, Dominique
Publicado 2013

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

por Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Publicado 2018

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

por Salort-Campana, Emmanuelle, Fatehi, Farzad, Beloribi-Djefaflia, Sadia, Roche, Stéphane, Nguyen, Karine, Bernard, Rafaelle, Cintas, Pascal, Solé, Guilhem, Bouhour, Françoise, Ollagnon, Elisabeth, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Kuntzer, Thierry, Levy, Nicolas, Magdinier, Frédérique, Attarian, Shahram
Publicado 2020

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

por Laberthonnière, Camille, Novoa‐del‐Toro, Elva‐Maria, Delourme, Mégane, Chevalier, Raphaël, Broucqsault, Natacha, Mazaleyrat, Kilian, Streichenberger, Nathalie, Manel, Véronique, Bernard, Rafaëlle, Salort Campana, Emmanuelle, Attarian, Shahram, Nguyen, Karine, Robin, Jérôme D., Baudot, Anais, Magdinier, Frédérique
Publicado 2021

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

por Salort-Campana, Emmanuelle, Nguyen, Karine, Bernard, Rafaelle, Jouve, Elisabeth, Solé, Guilhem, Nadaj-Pakleza, Aleksandra, Niederhauser, Julien, Charles, Estelle, Ollagnon, Elisabeth, Bouhour, Françoise, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Desnuelle, Claude, Tranchant, Christine, Vial, Christophe, Magdinier, Frederique, Bartoli, Marc, Arne-Bes, Marie-Christine, Ferrer, Xavier, Kuntzer, Thierry, Levy, Nicolas, Pouget, Jean, Attarian, Shahram
Publicado 2015

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

por Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, Latour, Philippe, Reilly, Mary M., Bouhour, Francoise, Stojkovic, Tanya
Publicado 2023

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

por Moore, Ursula, Jacobs, Marni, Fernandez-Torron, Roberto, LLauger Rossello, Jaume, Smith, Fiona E., James, Meredith, Mayhew, Anna, Rufibach, Laura, Carlier, Pierre G., Blamire, Andrew M., Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Straub, Volker, Diaz-Manera, Jordi
Publicado 2020

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

por Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique
Publicado 2019

Water T2 could predict functional decline in patients with dysferlinopathy

por Moore, Ursula, Caldas de Almeida Araújo, Ericky, Reyngoudt, Harmen, Gordish‐Dressman, Heather, Smith, Fiona E., Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Blamire, Andrew M., Straub, Volker, Carlier, Pierre G., Diaz‐Manera, Jordi
Publicado 2022

Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

por Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker
Publicado 2022

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

por Harris, Elizabeth, Bladen, Catherine L., Mayhew, Anna, James, Meredith, Bettinson, Karen, Moore, Ursula, Smith, Fiona E., Rufibach, Laura, Cnaan, Avital, Bharucha-Goebel, Diana X., Blamire, Andrew M., Bravver, Elena, Carlier, Pierre G., Day, John W., Díaz-Manera, Jordi, Eagle, Michelle, Grieben, Ulrike, Harms, Matthew, Jones, Kristi J., Lochmüller, Hanns, Mendell, Jerry R., Mori-Yoshimura, Madoka, Paradas, Carmen, Pegoraro, Elena, Pestronk, Alan, Salort-Campana, Emmanuelle, Schreiber-Katz, Olivia, Semplicini, Claudio, Spuler, Simone, Stojkovic, Tanya, Straub, Volker, Takeda, Shin'ich, Rocha, Carolina Tesi, Walter, M.C., Bushby, Kate
Publicado 2016

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

por Moore, Ursula R, Jacobs, Marni, Fernandez-Torron, Roberto, Jang, Jiji, James, Meredith K, Mayhew, Anna, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Cnaan, Avital, Carlier, Pierre G, Blamire, Andrew, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Diaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker
Publicado 2018

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

por Pisella, Lucie Isoline, Fernandes, Sara, Solé, Guilhem, Stojkovic, Tanya, Tard, Céline, Chanson, Jean-Baptiste, Bouhour, Françoise, Salort-Campana, Emmanuelle, Beaudonnet, Guillemette, Debergé, Louise, Duval, Fanny, Grapperon, Aude-Marie, Masingue, Marion, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Audic, Frédérique, Behin, Anthony, Friedman, Diane, Magot, Armelle, Noury, Jean-Baptiste, Souvannanorath, Sarah, Wahbi, Karim, Antoine, Jean-Christophe, Bigaut, Kévin, Camdessanché, Jean-Philippe, Cintas, Pascal, Debs, Rabab, Espil-Taris, Caroline, Kremer, Laurent, Kuntzer, Thierry, Laforêt, Pascal, Laugel, Vincent, Mallaret, Martial, Michaud, Maud, Nollet, Sylvain, Svahn, Juliette, Vicart, Savine, Villar-Quiles, Rocio Nur, Desguerre, Isabelle, Adams, David, Segovia-Kueny, Sandrine, Merret, Géraldine, Hammouda, Elhadi, Molon, Annamaria, Attarian, Shahram
Publicado 2021

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

por Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay N., Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish-Dressman, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker
Publicado 2022

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

por Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
Publicado 2015

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

por Diaz-Manera, Jordi, Fernandez-Torron, Roberto, LLauger, Jaume, James, Meredith K, Mayhew, Anna, Smith, Fiona E, Moore, Ursula R, Blamire, Andrew M, Carlier, Pierre G, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Jacobs, Marni, Hodgson, Tim, Wallace, Dorothy, Ward, Louise, Smith, Mark, Stramare, Roberto, Rampado, Alessandro, Sato, Noriko, Tamaru, Takeshi, Harwick, Bruce, Rico Gala, Susana, Turk, Suna, Coppenrath, Eva M, Foster, Glenn, Bendahan, David, Le Fur, Yann, Fricke, Stanley T, Otero, Hansel, Foster, Sheryl L, Peduto, Anthony, Sawyer, Anne Marie, Hilsden, Heather, Lochmuller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker
Publicado 2018

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

por Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernandez-Torron, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Lofra, Robert Muni, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Mendez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin'ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Straub, Volker
Publicado 2019