Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.

by Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat
Published 2016-01-01

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

by Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat
Published 2016-01-01

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

by Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée
Published 2020-05-01

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

by Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Published 2017-07-01

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 Abdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, Sylvie Chevret, Raquel Guimarães-Costa, France Leturcq, Karim Wahbi, Helene Prigent, Frederic Lofaso, Olivier Nardi, Bernard Clair, Anthony Behin, Tanya Stojkovic, Pascal Laforet, David Orlikowski, Djillali Annane
Published 2016-01-01

Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.

by Abdallah Fayssoil, Lee S Nguyen, Adam Ogna, Tanya Stojkovic, Paris Meng, Dominique Mompoint, Robert Carlier, Helene Prigent, Bernard Clair, Anthony Behin, Pascal Laforet, Guillaume Bassez, Pascal Crenn, David Orlikowski, Djillali Annane, Bruno Eymard, Frederic Lofaso
Published 2019-01-01

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

by Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro M. Machado, Thomas Voit, Ana Buj-Bello, Julie Dumonceaux
Published 2017-11-01

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints

by Alexander P. Murphy, Jasper Morrow, Julia R. Dahlqvist, Tanya Stojkovic, Tracey A. Willis, Christopher D. J. Sinclair, Stephen Wastling, Tarek Yousry, Michael S. Hanna, Meredith K. James, Anna Mayhew, Michelle Eagle, Laurence E. Lee, Jean‐Yves Hogrel, Pierre G. Carlier, John S. Thornton, John Vissing, Kieren G. Hollingsworth, Volker Straub
Published 2019-06-01

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study.

by Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Søren Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo L de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmüller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub
Published 2013-01-01

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study.

by Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Soren Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo Loureiro de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmuller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub
Published 2014-01-01

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

by Ariadna González-del Angel, Michela Bisciglia, Steven Vargas-Cañas, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B. Romero, Norma B. Romero, Norma B. Romero, Norma B. Romero, Norma B. Romero, Norma B. Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti, Edoardo Malfatti
Published 2019-10-01

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

by Giorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, Pierre-François Pradat
Published 2019-01-01

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

by Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera
Published 2020-12-01