A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Recept... by Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller

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Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy by Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni

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Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes by Katja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße, Ann-Kathrin Zaum, Heike Kölbel, Hanns Lochmüller, Ulrike Schara-Schmidt, Kiran Polavarapu, Andreas Roos, Andrea Gangfuß

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Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis by Paulo José Lorenzoni, Renata Dal-Pra Ducci, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Otto Jesus Hernandez Fustes, Ana Töpf, Hanns Lochmüller, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola

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Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol by Ian C. Smith, Yasmin Abusetah, Homira Osman, Aditi Garg, Alyssa Grant, Hanns Lochmuller, Hugh McMillan, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Stacey Lintern, Daria Wojtal, Kathy Selby, Kednapa Thavorn, Jodi Warman-Chardon

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The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey by Michelangelo Mancuso, Alessandro Colitta, Manuela Lavorato, Peter Van den Bergh, Janbernd Kirschner, Cornelia Kornblum, Lorenzo Maggi, Francois Lamy, Hanns Lochmüller, Marianne Nordstrøm, Edoardo Malfatti, Alessandra Ferlini, Davide Pareyson, Vincenzo Silani, Kleopas A Kleopa, Marianne de Visser, Antonio Atalaia, Teresinha Evangelista

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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

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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

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