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Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9. by Susanne S Rauh, Pierre-Yves Baudin, Tanya Stojkovic, Simone Birnbaum, Valérie Decostre, Rachida-Lydie Zanfongnon, Yves Fromes, Melissa T Hooijmans, Gustav J Strijkers, Jean-Yves Hogrel, Sophie Olivier, Benjamin Marty, Harmen Reyngoudt
Published 2025-01-01Get full text
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2
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 2013-01-01Get full text
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3
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 2014-01-01Get full text
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4
High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2 by Zoe White, Laura Rufibach, Heather Gordish Dressman, Heather Hilsden, Dan Cox, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Jordi Diaz‐Manera, Elena Pegoraro, Jerry R. Mendell, the Jain COS Consortium, Volker Straub, Pascal Bernatchez
Published 2025-08-01Get full text
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5
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Published 2024-07-01Get full text
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6
SLK is mutated in individuals with a neurodevelopmental disorderResearch in context by Lama Alabdi, Norah Altuwaijri, Jun-yi Zhu, Stephanie Efthymiou, Hangnoh Lee, Jianli Duan, Israa Salem, Piao Yu, Nor Linda Abdullah, Fatema Alzahrani, Qing Xu, Mashael M. Felemban, Abdullah Alfaifi, Fatima Rahman, Marilena Christoforou, Shazia Maqbool, Julian A. Martinez-Agosto, Hessa S. Alsaif, Mais Hashem, Rana Helaby, Ahood Alsulaiman, Reza Maroofian, Henry Houlden, Stefan T. Arold, Leena A. Ibrahim, Zhe Han, Fowzan S. Alkuraya, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa Ahmed Hamed, Mohamed A. Abd El Hamed, Samson Khachatryan, Ulviyya Guliyeva, Sughra Guliyeva, Kamran Salayev, Georgia Xiromerisiou, Liana Fidani, Cleanthe Spanaki, Mhammed Aguennouz, Gabriella Silvestri, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Abdullah Al-Ajmi, Shen-Yang Lim, Farooq Shaikh, Mohamed El Khorassani, Arn M.J.M. van den Maagdenberg, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Kolawole Wahab, Abiodun H. Bello, Sanni Abubakar, Yahaya Obiabo, Ernest Nwazor, Oluchi Ekenze, Uduak Williams, Alagoma Iyagba, Lolade Taiwo, Morenikeji Komolafe, Olapeju Oguntunde, Konstantin Senkevich, Ganieva Manizha, Maksud Isrofilov, Erin Torti, Maha Zaki, Hoda Tomoum, Amira Nabil, Paola Nicolaides, Shahzad Haider, Dana Hasbini, Chadi el Alam, Mona Huneineh, Faisal Zafar, Erum Afzal, Ilyas Muhammad, Atchayaram Nalini, Sofia Bakhtaze, Shahid Baig, Ben Issa, Chahnez Triki, Mussa Bassam, Dana Craiou, Meriem Tazir, Lamia Ali Patcha, Nebal Waill Saadi, Hanene Benrhouma, Payam Saraf, Khalid Hama Salih, Awatif
Published 2025-06-01Get full text
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