ColVI myopathies: where do we stand, where do we go?

by Allamand, Valérie, Briñas, Laura, Richard, Pascale, Stojkovic, Tanya, Quijano-Roy, Susana, Bonne, Gisèle
Published 2011

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

by Boizot, Alexia, Talmat-Amar, Yasmina, Morrogh, Deborah, Kuntz, Nancy L, Halbert, Cecile, Chabrol, Brigitte, Houlden, Henry, Stojkovic, Tanya, Schulman, Brenda A, Rautenstrauss, Bernd, Bomont, Pascale
Published 2014

Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

by El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, Pradat, Pierre-François
Published 2016

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...

by 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 2016

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

by El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, Pradat, Pierre-François
Published 2016

Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study

by 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 2013

Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study

by 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 2014

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth dis...

by Attarian, Shahram, Vallat, Jean-Michel, Magy, Laurent, Funalot, Benoît, Gonnaud, Pierre-Marie, Lacour, Arnaud, Péréon, Yann, Dubourg, Odile, Pouget, Jean, Micallef, Joëlle, Franques, Jérôme, Lefebvre, Marie-Noëlle, Ghorab, Karima, Al-Moussawi, Mahmoud, Tiffreau, Vincent, Preudhomme, Marguerite, Magot, Armelle, Leclair-Visonneau, Laurène, Stojkovic, Tanya, Bossi, Laura, Lehert, Philippe, Gilbert, Walter, Bertrand, Viviane, Mandel, Jonas, Milet, Aude, Hajj, Rodolphe, Boudiaf, Lamia, Scart-Grès, Catherine, Nabirotchkin, Serguei, Guedj, Mickael, Chumakov, Ilya, Cohen, Daniel
Published 2014

Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Mar...

by Attarian, Shahram, Vallat, Jean-Michel, Magy, Laurent, Funalot, Benoît, Gonnaud, Pierre-Marie, Lacour, Arnaud, Péréon, Yann, Dubourg, Odile, Pouget, Jean, Micallef, Joëlle, Franques, Jérôme, Lefebvre, Marie-Noëlle, Ghorab, Karima, Al-Moussawi, Mahmoud, Tiffreau, Vincent, Preudhomme, Marguerite, Magot, Armelle, Leclair-Visonneau, Laurène, Stojkovic, Tanya, Bossi, Laura, Lehert, Philippe, Gilbert, Walter, Bertrand, Viviane, Mandel, Jonas, Milet, Aude, Hajj, Rodolphe, Boudiaf, Lamia, Scart-Grès, Catherine, Nabirotchkin, Serguei, Guedj, Mickael, Chumakov, Ilya, Cohen, Daniel
Published 2016

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

by 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
Published 2016