Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Mariot, Virginie, Joubert, Romain, Hourdé, Christophe, Féasson, Léonard, Hanna, Michael, Muntoni, Francesco, Maisonobe, Thierry, Servais, Laurent, Bogni, Caroline, Le Panse, Rozen, Benvensite, Olivier, Stojkovic, Tanya, Machado, Pedro M., Voit, Thomas, Buj-Bello, Ana, Dumonceaux, Julie
Published in Nature communications (30.11.2017)
Published in Nature communications (30.11.2017)
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High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody
Allenbach, Yves, Keraen, Jeremy, Bouvier, Anne-Marie, Jooste, Valérie, Champtiaux, Nicolas, Hervier, Baptiste, Schoindre, Yoland, Rigolet, Aude, Gilardin, Laurent, Musset, Lucile, Charuel, Jean-Luc, Boyer, Olivier, Jouen, Fabienne, Drouot, Laurent, Martinet, Jeremie, Stojkovic, Tanya, Eymard, Bruno, Laforêt, Pascal, Behin, Antony, Salort-Campana, Emmanuelle, Fain, Olivier, Meyer, Alain, Schleinitz, Nicolas, Mariampillai, Kuberaka, Grados, Aurelie, Benveniste, Olivier
Published in Brain (London, England : 1878) (01.08.2016)
Published in Brain (London, England : 1878) (01.08.2016)
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Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis
Solé, Guilhem, Mathis, Stéphane, Friedman, Diane, Salort-Campana, Emmanuelle, Tard, Céline, Bouhour, Françoise, Magot, Armelle, Annane, Djillali, Clair, Bernard, Le Masson, Gwendal, Soulages, Antoine, Duval, Fanny, Carla, Louis, Violleau, Marie-Hélène, Saulnier, Tiphaine, Segovia-Kueny, Sandrine, Kern, Léa, Antoine, Jean-Christophe, Beaudonnet, Guillemette, Audic, Frédérique, Kremer, Laurent, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Cintas, Pascal, Spinazzi, Marco, Foubert-Samier, Alexandra, Attarian, Shahram
Published in Neurology (20.04.2021)
Published in Neurology (20.04.2021)
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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study
Willis, Tracey A, Hollingsworth, Kieren G, Coombs, Anna, Sveen, Marie-Louise, Andersen, Søren, Stojkovic, Tanya, Eagle, Michelle, Mayhew, Anna, de Sousa, Paulo L, Dewar, Liz, Morrow, Jasper M, Sinclair, Christopher D J, Thornton, John S, Bushby, Kate, Lochmüller, Hanns, Hanna, Michael G, Hogrel, Jean-Yves, Carlier, Pierre G, Vissing, John, Straub, Volker
Published in PloS one (14.08.2013)
Published in PloS one (14.08.2013)
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The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
Ceprian, Maria, Juntas-Morales, Raul, Campbell, Graham, Walther-Louvier, Ulrike, Rivier, François, Camu, William, Esselin, Florence, Echaniz-Laguna, Andoni, Stojkovic, Tanya, Bouhour, Françoise, Latour, Philippe, Tricaud, Nicolas
Published in International journal of molecular sciences (15.04.2024)
Published in International journal of molecular sciences (15.04.2024)
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Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
Fayssoil, Abdallah, Nguyen, Lee S, Ogna, Adam, Stojkovic, Tanya, Meng, Paris, Mompoint, Dominique, Carlier, Robert, Prigent, Helene, Clair, Bernard, Behin, Anthony, Laforet, Pascal, Bassez, Guillaume, Crenn, Pascal, Orlikowski, David, Annane, Djillali, Eymard, Bruno, Lofaso, Frederic
Published in PloS one (24.04.2019)
Published in PloS one (24.04.2019)
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul
Published in Nature communications (28.04.2022)
Published in Nature communications (28.04.2022)
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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
Published in American journal of human genetics (01.09.2009)
Published in American journal of human genetics (01.09.2009)
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JAG2-related muscular dystrophy: When differential diagnosis matters
Nur Villar-Quiles, Rocio, Romero, Norma B, Tanya, Stojkovic
Published in M.S. Médecine sciences (01.11.2021)
Published in M.S. Médecine sciences (01.11.2021)
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, Laporte, Jocelyn
Published in Acta neuropathologica (01.12.2017)
Published in Acta neuropathologica (01.12.2017)
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R, Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Published in Neurology (28.04.2015)
Published in Neurology (28.04.2015)
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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Published in Journal of neurology (01.03.2019)
Published in Journal of neurology (01.03.2019)
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Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D
Fayssoil, Abdallah, Ogna, Adam, Chaffaut, Cendrine, Chevret, Sylvie, Guimarães-Costa, Raquel, Leturcq, France, Wahbi, Karim, Prigent, Helene, Lofaso, Frederic, Nardi, Olivier, Clair, Bernard, Behin, Anthony, Stojkovic, Tanya, Laforet, Pascal, Orlikowski, David, Annane, Djillali
Published in PloS one (27.04.2016)
Published in PloS one (27.04.2016)
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Cyclic Change in Right and Left Ventricular Systolic and Diastolic Function in Patients with Neuromuscular Disorders on Permanent Mechanical Ventilation
Fayssoil, Abdallah, Mansencal, Nicolas, Bergounioux, Jean, Wahbi, Karim, Stojkovic, Tanya
Published in Journal of personalized medicine (11.10.2022)
Published in Journal of personalized medicine (11.10.2022)
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Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study
Willis, Tracey A, Hollingsworth, Kieren G, Coombs, Anna, Sveen, Marie-Louise, Andersen, Soren, Stojkovic, Tanya, Eagle, Michelle, Mayhew, Anna, de Sousa, Paulo Loureiro, Dewar, Liz, Morrow, Jasper M, Sinclair, Christopher D J, Thornton, John S, Bushby, Kate, Lochmuller, Hanns, Hanna, Michael G, Hogrel, Jean-Yves, Carlier, Pierre G, Vissing, John, Straub, Volker
Published in PloS one (28.02.2014)
Published in PloS one (28.02.2014)
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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study
Querin, Giorgia, El Mendili, Mohamed-Mounir, Lenglet, Timothée, Behin, Anthony, Stojkovic, Tanya, Salachas, François, Devos, David, Le Forestier, Nadine, del Mar Amador, Maria, Debs, Rabab, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, Gaëlle, Cohen-Adad, Julien, Lehéricy, Stéphane, Laforêt, Pascal, Blancho, Sophie, Benali, Habib, Catala, Martin, Li, Menghan, Marchand-Pauvert, Véronique, Hogrel, Jean-Yves, Bede, Peter, Pradat, Pierre-François
Published in NeuroImage clinical (01.01.2019)
Published in NeuroImage clinical (01.01.2019)
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High parasternal intercostal muscle thickening associated with diaphragm dysfunction in myofibrillar myopathy: A case study
Fayssoil, Abdallah, Behin, Anthony, Lofaso, Frédéric, Fernández-Eulate, Gorka, Stojkovic, Tanya
Published in Respiratory medicine case reports (01.01.2023)
Published in Respiratory medicine case reports (01.01.2023)
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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Salort-Campana, Emmanuelle, Solé, Guilhem, Magot, Armelle, Tard, Céline, Noury, Jean-Baptiste, Behin, Anthony, De La Cruz, Elisa, Boyer, François, Lefeuvre, Claire, Masingue, Marion, Debergé, Louise, Finet, Armelle, Brison, Mélanie, Spinazzi, Marco, Pegat, Antoine, Sacconi, Sabrina, Malfatti, Edoardo, Choumert, Ariane, Bellance, Rémi, Bedat-Millet, Anne-Laure, Feasson, Léonard, Vuillerot, Carole, Jacquin-Piques, Agnès, Michaud, Maud, Pereon, Yann, Stojkovic, Tanya, Laforêt, Pascal, Attarian, Shahram, Cintas, Pascal
Published in Orphanet journal of rare diseases (24.01.2024)
Published in Orphanet journal of rare diseases (24.01.2024)
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Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders
Fayssoil, Abdallah, Behin, Anthony, Ogna, Adam, Mompoint, Dominique, Amthor, Helge, Clair, Bernard, Laforet, Pascal, Mansart, Arnaud, Prigent, Helene, Orlikowski, David, Stojkovic, Tanya, Vinit, Stéphane, Carlier, Robert, Eymard, Bruno, Lofaso, Frederic, Annane, Djillali
Published in Journal of Neuromuscular Diseases (21.02.2018)
Published in Journal of Neuromuscular Diseases (21.02.2018)
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Book Review
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Limb girdle muscular dystrophy due to mutations in POMT2
Østergaard, Sofie Thurø, Johnson, Katherine, Stojkovic, Tanya, Krag, Thomas, De Ridder, Willem, De Jonghe, Peter, Baets, Jonathan, Claeys, Kristl G, Fernández-Torrón, Roberto, Phillips, Lauren, Topf, Ana, Colomer, Jaume, Nafissi, Shahriar, Jamal-Omidi, Shirin, Bouchet-Seraphin, Celine, Leturcq, France, MacArthur, Daniel G, Lek, Monkol, Xu, Liwen, Nelson, Isabelle, Straub, Volker, Vissing, John
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2018)
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