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Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.
Bolano-Diaz, Carla F. ORCID: https://orcid.org/0009-0006-3764-1073, Verdu-Diaz, Jose, Hao, Dan, James, Meredith K., Rufibach, Laura, Blamire, Andrew, Reyngoudt, Harmen, Carlier, Pierre G., Gordish-Dressman, Heather, Hilsden, Heather, Spuler, Simone ORCID: https://orcid.org/0000-0002-0155-1117, Day, John, Jones, Kristi J., Bharucha-Goebel, Diana, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry, Straub, Volker and Diaz-Manera, Jordi
Journal of Neurology 273 (6): 344. 26 May 2026

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.
Amaro, Adriana, Reggiani, Francesco, Panicucci, Chiara, Petito, Mariangela, Baratto, Serena, Pintus, Sara, Principi, Elisa, Antonini, Francesca, Del Zotto, Genny, Vellone, Valerio Gaetano, D'Amico, Adele, Lopergolo, Diego ORCID: https://orcid.org/0000-0003-2256-0482, Tonin, Paola, Malfatti, Edoardo, Mongini, Tiziana, Pegoraro, Elena, Previtali, Stefano ORCID: https://orcid.org/0000-0003-2546-4357, Rodolico, Carmelo, Tasca, Giorgio, Fiorillo, Chiara, Gazzerro, Elisabetta ORCID: https://orcid.org/0000-0003-2428-0302, Pfeffer, Ulrich ORCID: https://orcid.org/0000-0003-0872-4671, Bruno, Claudio and Raffaghello, Lizzia
Brain 149 (4): 1302-1318. April 2026

Functional integration of an autologous engineered esophagus in a large-animal model.
Durkin, Natalie, Hall, George T. ORCID: https://orcid.org/0000-0002-4828-0668, Lutman, Roberto, Scuglia, Marianna, Xenakis, Theodoros ORCID: https://orcid.org/0000-0003-3682-8873, Patera, Giulia, Di Biagio, Daniele, Yamada, Koji ORCID: https://orcid.org/0009-0003-9701-3018, Tullie, Lucinda, Scaglioni, Dominic ORCID: https://orcid.org/0000-0002-0441-2198, Shibuya, Soichi ORCID: https://orcid.org/0000-0002-4274-1312, Nikaki, Kornilia ORCID: https://orcid.org/0000-0002-8968-8926, Beesley, Max Arran, Saleh, Tarek, Garrido Flores, Matias, Borselle, Dominika ORCID: https://orcid.org/0000-0002-4880-8047, Karaluka, Valerija, Hutchinson, J. Ciaran ORCID: https://orcid.org/0000-0002-1708-2634, Khalaf, Sahira, Ogunbiyi, Olumide, Wu, Lei ORCID: https://orcid.org/0000-0002-0268-6304, Huang, Xia, Song, Wenhui ORCID: https://orcid.org/0000-0001-8406-472X, Loukogeorgakis, Stavros, Pellegata, Alessandro Filippo, Mantero, Sara ORCID: https://orcid.org/0000-0002-1264-0465, Cossu, Giulio ORCID: https://orcid.org/0000-0001-5863-9593, Li, Vivian S.W. ORCID: https://orcid.org/0000-0003-2041-0085, Borrelli, Osvaldo ORCID: https://orcid.org/0000-0003-0241-0508, Bonfanti, Paola ORCID: https://orcid.org/0000-0001-9655-3766, Castellano, Sergi, Gerli, Mattia Francesco Maria ORCID: https://orcid.org/0000-0002-9331-7394, McCann, Conor J. ORCID: https://orcid.org/0000-0002-9324-5984, Eaton, Simon ORCID: https://orcid.org/0000-0003-0892-9204, Pellegrini, Marco ORCID: https://orcid.org/0000-0002-3724-6640 and De Coppi, Paolo ORCID: https://orcid.org/0000-0002-1659-0207
Nature Biotechnology 20 March 2026 (In Press)

Comparison of different decellularization protocols for porcine centrum tendineum diaphragmatis and diaphragmatic muscle - a base for effective recellularization.
Gaag, Bruno F. ORCID: https://orcid.org/0009-0004-5848-982X, Tang, Peter, Klein, Oliver, Moosburner, Simon, Böhm, Agnes K., Lohmann, Theresa, Wieland, Jonas K., Contes, Victoria, Zhou, Yijun, Keshi, Eriselda, Haderer, Luna, Metzler, Eric ORCID: https://orcid.org/0000-0003-1735-6364, Schöwel-Wolf, Verena, Spuler, Simone ORCID: https://orcid.org/0000-0002-0155-1117, Rückert, Jens-Carsten, Pratschke, Johann, Sauer, Igor M., Andreas, Marco N. ORCID: https://orcid.org/0000-0003-0496-7123 and Hillebrandt, Karl H. ORCID: https://orcid.org/0000-0002-5114-6590
Journal of Biological Engineering 20 (1): 16. 27 January 2026

Advanced peptide nanoparticles enable robust and efficient delivery of gene editors across cell types.
Gustafsson, Oskar, Krishna, Supriya ORCID: https://orcid.org/0009-0008-8974-0721, Borate, Sophia, Ghaeidamini, Marziyeh, Liang, Xiuming, Saher, Osama, Cuellar, Raul, Birdsong, Björn K, Roudi, Samantha, Estupiñán, H Yesid, Alici, Evren, Smith, C I Edvard, Esbjörner, Elin K, Spuler, Simone ORCID: https://orcid.org/0000-0002-0155-1117, de Jong, Olivier Gerrit, Escobar, Helena ORCID: https://orcid.org/0000-0002-8128-7845, Nordin, Joel Z and Andaloussi, Samir E L
Journal of Controlled Release 386 : 114038. 10 October 2025

Genetic deletion of the purinergic receptor P2rx7 worsens the phenotype of α‑sarcoglycan muscular dystrophy.
Astigiano, Cecilia, Principi, Elisa, Pintus, Sara, Benzi, Andrea, Baratto, Serena, Panicucci, Chiara, Passalacqua, Mario, Sierra-Marquez, Juan, Nicke, Annette ORCID: https://orcid.org/0000-0001-6798-505X, Antonini, Francesca, Del Zotto, Genny, Cicatiello, Annunziata Gaetana, Raffaghello, Lizzia, Rezzonico Jost, Tanja, Grassi, Fabio, Bruzzone, Santina ORCID: https://orcid.org/0000-0003-2034-3716, Bruno, Claudio and Gazzerro, Elisabetta ORCID: https://orcid.org/0000-0003-2428-0302
ACS Pharmacology & Translational Science 8 (10): 3477-3489. 10 October 2025

High-density lipoprotein-associated cholesterol abnormalities in a clinical outcomes study of dysferlin-deficient limb-girdle muscular dystrophy type R2.
White, Zoe, Rufibach, Laura, Dressman, Heather Gordish, Hilsden, Heather, Cox, Dan, Spuler, Simone ORCID: https://orcid.org/0000-0002-0155-1117, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Diaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker and Bernatchez, Pascal ORCID: https://orcid.org/0000-0002-3198-1548
Journal of Cachexia Sarcopenia and Muscle 16 (4): e70042. August 2025

TNAP expressing adventitial pericytes contribute to myogenesis during foetal development.
Fancello, I., Willett, S., Castiglioni, C., Amer, S., Santoleri, S., Bragg, L., Galli, F. and Cossu, G.
Vascular Pharmacology 159 : 107489. June 2025

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy.
Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Di Francescantonio, S. ORCID: https://orcid.org/0000-0002-4815-491X, Smirnova, J., Graf, R. ORCID: https://orcid.org/0000-0002-5400-9938, Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Zhogov, A. ORCID: https://orcid.org/0009-0009-2192-0475, Krishna, S. ORCID: https://orcid.org/0009-0008-8974-0721, Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Petkova, M., Daumke, O. ORCID: https://orcid.org/0000-0002-6190-1414, Kühn, R. ORCID: https://orcid.org/0000-0003-1694-9803 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Nature Communications 16 (1): 120. 2 January 2025

Lessons from a negative gene therapy trial for Duchenne muscular dystrophy.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Borasio, G.D. and Grittner, U.
Nature Medicine 31 (1): 37-38. January 2025

Improving clinical documentation of rare neuromuscular diseases: development of a standardised information model.
Hübner, M., Nyoungui, E., Gazzero, E. ORCID: https://orcid.org/0000-0003-2428-0302, Hassoun, L., Zschüntzsch, J., Krefting, D., Schepers, J. and Röttgerd, R.
Studies in Health Technology and Informatics 316 : 1418-1419. 22 August 2024

Undetected neuromuscular disease in patients after heart transplantation.
Bekele, B.M. ORCID: https://orcid.org/0000-0003-2727-1647, Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Schoenrath, F., Falk, V., Rost, S., Hoerning, S., Jelting, Y., Zaum, A.K., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Knierim, J. ORCID: https://orcid.org/0000-0002-0514-0016
International Journal of Molecular Sciences 25 (14): 7819. 17 July 2024

Caveolin-3 and Caveolin-1 interaction decreases channel dysfunction due to Caveolin-3 mutations.
Benzoni, P. ORCID: https://orcid.org/0000-0002-3371-3301, Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Fiorillo, C., Baratto, S., Bartolucci, C. ORCID: https://orcid.org/0000-0001-6231-2980, Severi, S. ORCID: https://orcid.org/0000-0003-4306-8294, Milanesi, R., Lippi, M., Langione, M. ORCID: https://orcid.org/0000-0002-7783-2177, Murano, C. ORCID: https://orcid.org/0000-0003-3146-6754, Meoni, C., Popolizio, V., Cospito, A. ORCID: https://orcid.org/0000-0002-8919-4889, Baruscotti, M., Bucchi, A. and Barbuti, A. ORCID: https://orcid.org/0000-0002-4521-4913
International Journal of Molecular Sciences 25 (2): 980. 12 January 2024

Development and systematic evaluation of decellularization protocols in different application models for diaphragmatic tissue engineering.
Andreas, M.N., Boehm, A.K., Tang, P., Moosburner, S., Klein, O., Daneshgar, A., Gaßner, J.M.G.V., Raschzok, N., Haderer, L., Wulsten, D., Rückert, J.C., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Pratschke, J., Sauer, I.M. and Hillebrandt, K.H.
Biomaterials Advances 153 : 213493. October 2023

Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy.
Kalkan, H., Pagano, E., Paris, D. ORCID: https://orcid.org/0000-0003-4526-8353, Panza, E. ORCID: https://orcid.org/0000-0003-0274-4671, Cuozzo, M., Moriello, C. ORCID: https://orcid.org/0000-0001-9975-4918, Piscitelli, F. ORCID: https://orcid.org/0000-0001-9343-4622, Abolghasemi, A., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Silvestri, C., Capasso, R., Motta, A. ORCID: https://orcid.org/0000-0002-8643-658X, Russo, R. ORCID: https://orcid.org/0000-0001-5950-1617, Di Marzo, V. ORCID: https://orcid.org/0000-0002-1490-3070 and Iannotti, F.A. ORCID: https://orcid.org/0000-0003-4480-8370
EMBO Molecular Medicine 15 (3): e16225. 8 March 2023

Telemedicine in neuromuscular diseases during Covid-19 pandemic: ERN-NMD European survey.
El-Hassar, L., Amara, A., Sanson, B., Lacatus, O., Amir Belhouchet, A., Kroneman, M., Claeys, K., Plançon, J.P., Rodolico, C., Primiano, G., Trojsi, F., Filosto, M., Mongini, T.E., Bortolani, S., Monforte, M., Carraro, E., Maggi, L., Ricci, F., Silani, V., Orsucci, D., Créange, A., Péréon, Y., Stojkovic, T., van der Beek, N.A.M.E., Toscano, A., Pareyson, D., Attarian, S., Van den Bergh, P.Y.K., Remiche, G., Hoeijmakers, J.G.J., Badrising, U., Voermans, N.C., Kaindl, A.M., Schara-Schmidt, U., Schoser, B., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Haberlová, Ja., Voháňka, S., Pál, E., Molnar, M. J., Leonardis, L., Tournev, I.L., Osorio, A.N., Olivé, M., Muelas, N., Alonso-Perez, J., de Visser, M., Siciliano, G. and Sacconi, S.
Journal of Neuromuscular Diseases 10 (2): 173-184. 7 March 2023

Aberrant adenosine triphosphate release and impairment of P2Y2-Mediated signaling in sarcoglycanopathies.
Benzi, A., Baratto, S., Astigiano, C., Sturla, L., Panicucci, C., Mamchaoui, K., Raffaghello, L., Bruzzone, S., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302 and Bruno, C.
Laboratory Investigation 103 (3): 100037. March 2023

Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation.
Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Ignak, B., Kieshauer, J. ORCID: https://orcid.org/0000-0002-6924-8616, Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Stadelmann, C. ORCID: https://orcid.org/0000-0001-5457-5721 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Molecular Therapy - Nucleic Acids 13 : 494-511. March 2023

Disintegration of the NuRD complex in primary human muscle stem cells in critical illness myopathy.
Schneider, J. ORCID: https://orcid.org/0000-0001-8810-0492, Sundaravinayagam, D. ORCID: https://orcid.org/0000-0003-0717-7530, Blume, A. ORCID: https://orcid.org/0000-0003-3045-8234, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Grunwald, S. ORCID: https://orcid.org/0000-0002-3899-5424, Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859, Wang, H. ORCID: https://orcid.org/0000-0003-3720-3859, Wollersheim, T. ORCID: https://orcid.org/0000-0002-3170-0996, Weber-Carstens, S., Akalin, A. ORCID: https://orcid.org/0000-0002-0468-0117, Di Virgilio, M. ORCID: https://orcid.org/0000-0001-5189-0793, Tursun, B. ORCID: https://orcid.org/0000-0001-7293-8629 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
International Journal of Molecular Sciences 24 (3): 2772. 1 February 2023

"suMus," a novel digital system for arm movement metrics and muscle energy expenditure.
Gerhalter, Teresa ORCID: https://orcid.org/0000-0001-9734-4632, Müller, Christina, Maron, Elke, Thielen, Markus, Schätzl, Teresa ORCID: https://orcid.org/0009-0000-3105-8385, Mähler, A. ORCID: https://orcid.org/0000-0002-3904-5789, Schütte, T. ORCID: https://orcid.org/0000-0003-4869-2766, Boschmann, M. ORCID: https://orcid.org/0000-0002-0114-7114, Herzer, René, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302
Frontiers in Physiology 14 : 1057592. 26 January 2023

Exercise blood-drop metabolic profiling links metabolism with perceived exertion.
Opialla, T. ORCID: https://orcid.org/0000-0001-9527-8061, Gollasch, B., Kuich, P.H.J.L., Klug, L., Rahn, G., Busjahn, A. ORCID: https://orcid.org/0000-0001-9650-6919, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Boschmann, M. ORCID: https://orcid.org/0000-0002-0114-7114, Kirwan, J.A. ORCID: https://orcid.org/0000-0002-5423-1651, Luft, F.C. ORCID: https://orcid.org/0000-0002-8635-1199 and Kempa, S. ORCID: https://orcid.org/0000-0002-0696-9299
Frontiers in Molecular Biosciences 9 : 1042231. 21 December 2022

LMNA co-regulated gene expression as a suitable readout after precise gene correction.
Wang, H. ORCID: https://orcid.org/0000-0003-3720-3859, Krause, A. ORCID: https://orcid.org/0000-0001-9515-2477, Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859, Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
International Journal of Molecular Sciences 23 (24): 15525. 2 December 2022

Human primary muscle stem cells regenerate injured urethral sphincter in athymic rats.
Bekele, B.M. ORCID: https://orcid.org/0000-0003-2727-1647, Schöwel-Wolf, V. ORCID: https://orcid.org/0000-0002-5924-3088, Kieshauer, J. ORCID: https://orcid.org/0000-0002-6924-8616, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Busjahn, A., Davis, S., Nugent, G., Ebert, A.K. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Animal Models and Experimental Medicine 5 (5): 453-460. October 2022

Stammzelltherapien für Muskeldystrophien.
Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845
BIOspektrum 28 : 493–496. September 2022

Therapeutic targeting of ATR in alveolar rhabdomyosarcoma.
Dorado Garcia, H. ORCID: https://orcid.org/0000-0002-2578-3350, Pusch, F. ORCID: https://orcid.org/0000-0002-7152-080X, Bei, Y. ORCID: https://orcid.org/0000-0002-2104-8025, von Stebut, J. ORCID: https://orcid.org/0000-0001-9811-445X, Ibáñez, G., Guillan, K., Imami, K. ORCID: https://orcid.org/0000-0002-7451-4982, Gürgen, D. ORCID: https://orcid.org/0000-0001-9241-6537, Rolff, J., Helmsauer, K. ORCID: https://orcid.org/0000-0003-0773-4114, Meyer-Liesener, S., Timme, N., Bardinet, V. ORCID: https://orcid.org/0000-0002-9583-7043, Chamorro González, R. ORCID: https://orcid.org/0000-0002-5653-7259, MacArthur, I.C. ORCID: https://orcid.org/0000-0003-1718-1349, Chen, C.Y. ORCID: https://orcid.org/0000-0002-1579-024X, Schulz, J., Wengner, A.M. ORCID: https://orcid.org/0009-0009-5772-1945, Furth, C., Lala, B., Eggert, A. ORCID: https://orcid.org/0000-0003-3476-8184, Seifert, G., Hundsoerfer, P., Kirchner, M. ORCID: https://orcid.org/0000-0002-7049-534X, Mertins, P. ORCID: https://orcid.org/0000-0002-2245-528X, Selbach, M. ORCID: https://orcid.org/0000-0003-2454-8751, Lissat, A., Dubois, F. ORCID: https://orcid.org/0000-0002-7654-6208, Horst, D., Schulte, J.H. ORCID: https://orcid.org/0000-0003-0671-1201, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, You, D., Dela Cruz, F., Kung, A.L. ORCID: https://orcid.org/0000-0002-9091-488X, Haase, K. ORCID: https://orcid.org/0000-0002-0944-5618, Di Virgilio, M. ORCID: https://orcid.org/0000-0001-5189-0793, Scheer, M., Ortiz, M.V. and Henssen, A.G. ORCID: https://orcid.org/0000-0003-1534-778X
Nature Communications 13 (1): 4297. 25 July 2022

mRNA-mediated delivery of gene editing tools to human primary muscle stem cells.
Stadelmann, C. ORCID: https://orcid.org/0000-0001-5457-5721, Di Francescantonio, S. ORCID: https://orcid.org/0000-0002-4815-491X, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845
Molecular Therapy - Nucleic Acids 28 : 47-57. 14 June 2022

Generation of hiPSC-derived skeletal muscle cells: exploiting the potential of skeletal muscle-derived hiPSCs.
Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Sunaga-Franze, D.Y. ORCID: https://orcid.org/0000-0002-6851-9162, Sauer, S. ORCID: https://orcid.org/0000-0002-4794-3693, Diecke, S. ORCID: https://orcid.org/0000-0002-5219-5992 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Biomedicines 10 (5): 1204. 23 May 2022

Myofibrillar protein synthesis rates are increased in chronically exercised skeletal muscle despite decreased anabolic signaling.
Langer, H.T., West, D., Senden, J., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, van Loon, L.J.C. and Baar, K.
Scientific Reports 12 (1): 7553. 9 May 2022

Cardiac and pulmonary findings in dysferlinopathy: a 3-year, longitudinal study.
Moore, U., Fernandez-Torron, R., Jacobs, M. ORCID: https://orcid.org/0000-0001-6649-6692, Gordish, H., Diaz-Manera, J. ORCID: https://orcid.org/0000-0003-2941-7988, James, M.K. ORCID: https://orcid.org/0000-0001-8078-7744, Mayhew, A.G., Harris, E., Guglieri, M., Rufibach, L.E., Feng, J., Blamire, A.M., Carlier, P.G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Pegoraro, E., Lowes, L.P., Mendell, J.R., Bushby, K., Bourke, J. and Straub, V. ORCID: https://orcid.org/0000-0001-9046-3540
Muscle & Nerve 65 (5): 531-540. May 2022

Assessing the relationship of patient reported outcome measures with functional status in dysferlinopathy: a Rasch analysis approach.
Mayhew, A.G., James, M.K., Moore, U., Sutherland, H., Jacobs, M., Feng, J., Lowes, L.P., Alfano, L.N., Muni Lofra, R., Rufibach, L.E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernández, I., Holsten, S., Sakamoto, C., Canal, A., Sánchez-Aguilera Práxedes, N., Thiele, S., Siener, C., Vandevelde, B., DeWolf, B., Maron, E., Gordish-Dressman, H., Hilsden, H., Guglieri, M., Hogrel, J.Y., Blamire, A.M., Carlier, P.G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Díaz-Manera, J., Pegoraro, E., Mendell, J.R. and Straub, V.
Frontiers in Neurology 13 : 828525. 10 March 2022

Statins aggravate the risk of insulin resistance in human muscle.
Grunwald, S.A. ORCID: https://orcid.org/0000-0002-3899-5424, Haafke, S., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Kassner, U., Steinhagen-Thiessen, E. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
International Journal of Molecular Sciences 23 (4): 2398. 21 February 2022

4-phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Tominaga, K., Tominaga, N., Williams, E.O., Rufibach, L., Schöwel, V. ORCID: https://orcid.org/0000-0002-5924-3088, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Viswanathan, M. and Guarente, L.P.
iScience 25 (1): 103667. 21 January 2022

P2X7 receptor antagonist reduces fibrosis and inflammation in a mouse model of alpha-sarcoglycan muscular dystrophy.
Raffaghello, L. ORCID: https://orcid.org/0000-0003-2357-0607, Principi, E., Baratto, S., Panicucci, C. ORCID: https://orcid.org/0000-0003-4571-611X, Pintus, S., Antonini, F. ORCID: https://orcid.org/0000-0002-4469-8522, Del Zotto, G. ORCID: https://orcid.org/0000-0001-7272-7776, Benzi, A., Bruzzone, S., Scudieri, P., Minetti, C., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302 and Bruno, C.
Pharmaceuticals 15 (1): 89. 13 January 2022

Challenges in cell transplantation for muscular dystrophy.
Galli, F. ORCID: https://orcid.org/0000-0002-6696-4086, Mouly, V. ORCID: https://orcid.org/0000-0003-3809-4033, Butler-Browne, G. and Cossu, G. ORCID: https://orcid.org/0000-0001-5863-9593
Experimental Cell Research 409 (1): 112908. 1 December 2021

Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study.
Blaszczyk, E. ORCID: https://orcid.org/0000-0001-7370-1690, Lim, C., Kellman, P., Schmacht, L., Gröschel, J. ORCID: https://orcid.org/0000-0002-7268-9041, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092
Journal of Cardiovascular Magnetic Resonance 23 (1): 130. 8 November 2021

Age-related decline in murine heart and skeletal muscle performance is attenuated by reduced Ahnak1 expression.
Mahmoodzadeh, S. ORCID: https://orcid.org/0000-0002-3094-7874, Koch, K., Schriever, C., Xu, J. ORCID: https://orcid.org/0000-0001-8552-4134, Steinecker, M., Leber, J., Dworatzek, E., Purfürst, B. ORCID: https://orcid.org/0000-0002-9887-7577, Kunz, S. ORCID: https://orcid.org/0000-0002-0131-3506, Recchia, D., Canepari, M., Heuser, A. ORCID: https://orcid.org/0000-0002-3334-960X, Di Francescantonio, S. ORCID: https://orcid.org/0000-0002-4815-491X and Morano, I. ORCID: https://orcid.org/0000-0001-7315-2222
Journal of Cachexia Sarcopenia and Muscle 12 (5): 1249-1265. 14 October 2021

Diagnostik und Therapie von statinassoziierten Muskelsymptomen [Diagnostics and treatment of statin-associated muscle symptoms].
Kassner, U., Grunwald, S. ORCID: https://orcid.org/0000-0002-3899-5424, Spira, D., Buchmann, N., Bobbert, T., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Hollstein, T., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Steinhagen-Thiessen, E.
Internist 62 : 827-840. August 2021

Base editing repairs an SGCA mutation in human primary muscle stem cells.
Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Krause, A. ORCID: https://orcid.org/0000-0001-9515-2477, Keiper, S., Kieshauer, J. ORCID: https://orcid.org/0000-0002-6924-8616, Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859, García de Paredes, M., Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Kühn, R. ORCID: https://orcid.org/0000-0003-1694-9803, Heyd, F. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
JCI Insight 6 (10): e145994. 24 May 2021

Assessing dysferlinopathy patients over three years with a new motor scale.
Jacobs, M., James, M.K., Lowes, L.P., Alfano, L.N. ORCID: https://orcid.org/0000-0002-2263-7569, Eagle, M., Lofra, R.M., Moore, U., Feng, J., Rufibach, L.E., Rose, K., Duong, T., Bello, L. ORCID: https://orcid.org/0000-0002-3075-6525, Pedrosa-Hernández, I., Holsten, S., Sakamoto, C., Canal, A., Práxedes, N.S.A., Thiele, S., Siener, C., Vandevelde, B., DeWolf, B., Maron, E., Guglieri, M., Hogrel, J.Y. ORCID: https://orcid.org/0000-0003-0045-7505, Blamire, A.M. ORCID: https://orcid.org/0000-0002-8749-1257, Carlier, P.G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A. ORCID: https://orcid.org/0000-0002-8991-5770, Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Díaz-Manera, J., Pegoraro, E., Mendell, J.R., Mayhew, A.G. and Straub, V. ORCID: https://orcid.org/0000-0001-9046-3540
Annals of Neurology 89 (5): 967-978. May 2021

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore, U., Gordish, H., Diaz-Manera, J., James, M.K., Mayhew, A.G., Guglieri, M., Torron, R.F., Rufibach, L.E., Feng, J., Blamire, A.M., Carlier, P.G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Pegoraro, E., Lowes, L.P., Mendell, J.R., Bushby, K. and Straub, V.
Neuromuscular Disorders 31 (4): 265-280. April 2021

Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells.
Kim, M. ORCID: https://orcid.org/0000-0002-6863-841X, Franke, V. ORCID: https://orcid.org/0000-0003-3606-6792, Brandt, B., Lowenstein, E.D. ORCID: https://orcid.org/0000-0003-3755-0818, Schöwel, V. ORCID: https://orcid.org/0000-0002-5924-3088, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Akalin, A. ORCID: https://orcid.org/0000-0002-0468-0117 and Birchmeier, C. ORCID: https://orcid.org/0000-0002-2041-8872
Nature Communications 11 : 6375. 11 December 2020

Generation of three age and gender matched pairs of human induced pluripotent stem cells derived from myoblasts (MDCi011-A, MDCi012-A, MDCi013-A) and from peripheral blood mononuclear cells (MDCi011-B, MDCi012-B, MDCi013-B) from the same donor.
Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Telugu, N. ORCID: https://orcid.org/0000-0003-4509-7056, Diecke, S. ORCID: https://orcid.org/0000-0002-5219-5992, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845
Stem Cell Research 48 : 101987. October 2020

Generation of two human induced Pluripotent Stem Cell lines derived from myoblasts (MDCi014-A) and from peripheral blood mononuclear cells (MDCi014-B) from the same donor.
Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Telugu, N. ORCID: https://orcid.org/0000-0003-4509-7056, Diecke, S. ORCID: https://orcid.org/0000-0002-5219-5992, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845
Stem Cell Research 48 : 101998. October 2020

Attenuated epigenetic suppression of muscle stem cell necroptosis is required for efficient regeneration of dystrophic muscles.
Sreenivasan, K., Ianni, A., Künne, C., Strilic, B., Günther, S., Perdiguero, E., Krüger, M., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Offermanns, S., Gómez-Del Arco, P., Redondo, J.M., Munoz-Canoves, P., Kim, J. and Braun, T.
Cell Reports 31 (7): 107652. 19 May 2020

MyoMiner: explore gene co-expression in normal and pathological muscle.
Malatras, A., Michalopoulos, I., Duguez, S., Butler-Browne, G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Duddy, W.J. ORCID: https://orcid.org/0000-0003-2239-9094
BMC Medical Genomics 13 (1): 67. 11 May 2020

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.
Grunwald, S.A. ORCID: https://orcid.org/0000-0002-3899-5424, Popp, O. ORCID: https://orcid.org/0000-0001-6240-4666, Haafke, S., Jedraszczak, N., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Saar, K. ORCID: https://orcid.org/0000-0002-4483-1557, Patone, G., Kress, W., Steinhagen-Thiessen, E., Dittmar, G. ORCID: https://orcid.org/0000-0003-3647-8623 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Scientific Reports 10 : 2158. 7 February 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M., Fischer, C. ORCID: https://orcid.org/0000-0003-0329-2435, Urzi, A., Vidal, R. ORCID: https://orcid.org/0000-0003-4217-2014, Kunz, S. ORCID: https://orcid.org/0000-0002-0131-3506, Ruffault, P.L. ORCID: https://orcid.org/0000-0002-3378-3828, Kabuss, L., Hube, I., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Birchmeier, C. ORCID: https://orcid.org/0000-0002-2041-8872, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Sauer, S. ORCID: https://orcid.org/0000-0002-4794-3693 and Gouti, M. ORCID: https://orcid.org/0000-0001-7422-1605
Cell Stem Cell 26 (2): 172-186. 6 February 2020

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates.
Langer, H.T. ORCID: https://orcid.org/0000-0003-1838-4279, Afzal, S. ORCID: https://orcid.org/0009-0009-5490-6098, Kempa, S. ORCID: https://orcid.org/0000-0002-0696-9299 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Scientific Reports 10 : 1908. 5 February 2020

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7.
Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Escobar Fernandez, H. ORCID: https://orcid.org/0000-0002-8128-7845, Karaiskos, N. ORCID: https://orcid.org/0000-0001-7771-3947, Grunwald, S.A. ORCID: https://orcid.org/0000-0002-3899-5424, Metzler, E. ORCID: https://orcid.org/0000-0003-1735-6364, Kieshauer, J. ORCID: https://orcid.org/0000-0002-6924-8616, Sauer, S. ORCID: https://orcid.org/0000-0002-4794-3693, Pasemann, D., Malfatti, E., Mompoint, D., Quijano-Roy, S., Boltengagen, A. ORCID: https://orcid.org/0000-0002-8356-9766, Schneider, J. ORCID: https://orcid.org/0000-0001-8810-0492, Schülke, M. ORCID: https://orcid.org/0000-0003-2824-3891, Kunz, S. ORCID: https://orcid.org/0000-0002-0131-3506, Carlier, R. ORCID: https://orcid.org/0000-0002-9417-0726, Birchmeier, C. ORCID: https://orcid.org/0000-0002-2041-8872, Amthor, H., Spuler, A., Kocks, C. ORCID: https://orcid.org/0000-0003-1749-3334, Rajewsky, N. ORCID: https://orcid.org/0000-0002-4785-4332 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Nature Communications 10 (1): 5776. 18 December 2019

Muscle wasting and function after muscle activation and early protocol-based physiotherapy: an explorative trial.
Wollersheim, T., Grunow, J.J., Carbon, N.M., Haas, K., Malleike, J., Ramme, S.F., Schneider, J. ORCID: https://orcid.org/0000-0001-8810-0492, Spies, C.D., Märdian, S., Mai, K., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045 and Weber-Carstens, S.
Journal of Cachexia Sarcopenia and Muscle 10 (4): 734-747. August 2019

Oscillations of MyoD and Hes1 proteins regulate the maintenance of activated muscle stem cells.
Lahmann, I. ORCID: https://orcid.org/0000-0003-0640-4519, Bröhl, D., Zyrianova, T. ORCID: https://orcid.org/0000-0003-4295-6708, Isomura, A., Czajkowski, M.T. ORCID: https://orcid.org/0000-0002-0122-1943, Kapoor, V. ORCID: https://orcid.org/0000-0001-5331-7966, Griger, J. ORCID: https://orcid.org/0000-0001-8666-3371, Ruffault, P.L. ORCID: https://orcid.org/0000-0002-3378-3828, Mademtzoglou, D. ORCID: https://orcid.org/0000-0002-4494-7234, Zammit, P.S., Wunderlich, T., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Kühn, R. ORCID: https://orcid.org/0000-0003-1694-9803, Preibisch, S. ORCID: https://orcid.org/0000-0002-0276-494X, Wolf, J. ORCID: https://orcid.org/0000-0003-3254-5868, Kageyama, R. and Birchmeier, C. ORCID: https://orcid.org/0000-0002-2041-8872
Genes & Development 33 (9-10): 524-535. 1 May 2019

Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance.
Blaszczyk, E. ORCID: https://orcid.org/0000-0001-7370-1690, Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, von Knobelsdorff-Brenkenhoff, F. ORCID: https://orcid.org/0000-0003-0745-6062, Kellman, P., Schmacht, L., Funk, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092
Journal of Cardiovascular Magnetic Resonance 21 (1): 25. 29 April 2019

The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan-deficient muscular dystrophy.
Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Baratto, S., Assereto, S., Baldassari, S., Panicucci, C., Raffaghello, L., Scudieri, P., De Battista, D., Fiorillo, C., Volpi, S., Chaabane, L., Malnati, M., Messina, G., Bruzzone, S., Traggiai, E., Grassi, F., Minetti, C. and Bruno, C.
American Journal of Pathology 189 (2): 354-369. February 2019

Assessment of disease progression in dysferlinopathy: a 1-year cohort study.
Moore, U., Jacobs, M., James, M.K., Mayhew, A.G., Fernandez-Torron, R., Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L.E., Lofra, R.M., Blamire, A.M., Carlier, P.G., Mittal, P. ORCID: https://orcid.org/0000-0002-1882-4513, Lowes, L.P., Alfano, L., Rose, K., Duong, T., Berry, K.M., Montiel-Morillo, E., Pedrosa-Hernández, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J.B., Sánchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Shierbecker, J., Florence, J.M., Vandevelde, B., DeWolf, B., Hutchence, M., Gee, R., Prügel, J., Maron, E., Hilsden, H., Lochmüller, H., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Tesi Rocha, C., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M.C., Paradas, C., Hogrel, J.Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Díaz-Manera, J., Bello, L., Semplicini, C., Pegoraro, E., Mendell, J.R., Bushby, K. and Straub, V.
Neurology 92 (5): e461-e474. 29 January 2019

Exon skipping in a Dysf-missense mutant mouse model.
Malcher, J., Heidt, L., Goyenvalle, A., Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Beley, C., Benchaouir, R., Bader, M. ORCID: https://orcid.org/0000-0003-4780-4164, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, García, L. and Schöwel, V. ORCID: https://orcid.org/0000-0002-5924-3088
Molecular Therapy - Nucleic Acids 13 : 198-207. 7 December 2018

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Diaz-Manera, J., Fernandez-Torron, R., LLauger, J., James, M.K., Mayhew, A., Smith, F.E., Moore, U.R., Blamire, A.M., Carlier, P.G., Rufibach, L., Mittal, P., Eagle, M., Jacobs, M., Hodgson, T., Wallace, D., Ward, L., Smith, M., Stramare, R., Rampado, A., Sato, N., Tamaru, T., Harwick, B., Rico Gala, S., Turk, S., Coppenrath, E.M., Foster, G., Bendahan, D., Le Fur, Y., Fricke, S.T., Otero, H., Foster, S.L., Peduto, A., Sawyer, A.M., Hilsden, H., Lochmuller, H., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Tesi Rocha, C., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M.C., Paradas, C., Hogrel, J.Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Bello, L. ORCID: https://orcid.org/0000-0002-3075-6525, Semplicini, C., Pegoraro, E., Mendell, J.R., Bushby, K. and Straub, V.
Journal of Neurology Neurosurgery and Psychiatry 89 (10): 1071-1081. October 2018

Genetic and pharmacological regulation of the endocannabinoid CB1 receptor in Duchenne muscular dystrophy.
Iannotti, F.A., Pagano, E., Guardiola, O., Adinolfi, S. ORCID: https://orcid.org/0000-0003-4906-0859, Saccone, V., Consalvi, S., Piscitelli, F., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Busetto, G. ORCID: https://orcid.org/0000-0003-4281-8081, Carrella, D., Capasso, R., Puri, P.L. ORCID: https://orcid.org/0000-0003-4964-0095, Minchiotti, G. ORCID: https://orcid.org/0000-0003-0225-9043 and Di Marzo, V.
Nature Communications 9 (1): 3950. 27 September 2018

Muscle atrophy due to nerve damage is accompanied by elevated myofibrillar protein synthesis rates.
Langer, H.T. ORCID: https://orcid.org/0000-0003-1838-4279, Senden, J.M.G., Gijsen, A.P., Kempa, S. ORCID: https://orcid.org/0000-0002-0696-9299, van Loon, Luc J. C. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Frontiers in Physiology 9 : 1220. 31 August 2018

Burst-like transcription of mutant and wildtype MYH7-alleles as possible origin of cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.
Montag, J., Kowalski, K., Makul, M., Ernstberger, P., Radocaj, A., Beck, J., Becker, E., Tripathi, S., Keyser, B., Mühlfeld, C., Wissel, K., Pich, A., van der Velden, J., Dos Remedios, C.G., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Francino, A., Navarro-López, F., Brenner, B. and Kraft, T.
Frontiers in Physiology 9 : 359. 9 April 2018

Loss of Ptpn11 (Shp2) drives satellite cells into quiescence.
Griger, J. ORCID: https://orcid.org/0000-0001-8666-3371, Schneider, R., Lahmann, I. ORCID: https://orcid.org/0000-0003-0640-4519, Schöwel, V., Keller, C., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Nazare, M. and Birchmeier, C. ORCID: https://orcid.org/0000-0002-2041-8872
eLife 6 : e21552. 2 May 2017

Localized irradiation of mouse legs using an image-guided robotic linear accelerator.
Kufeld, M., Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Pasemann, D., Budach, V. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Annals of Translational Medicine 5 (7): 156. April 2017

FHL1B Interacts with lamin A/C and emerin at the nuclear lamina and is misregulated in Emery-Dreifuss Muscular Dystrophy.
Ziat, E., Mamchaoui, K., Beuvin, M., Nelson, I., Azibani, F., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Bonne, G. and Bertrand, A.T.
Journal of Neuromuscular Diseases 3 (4): 497-510. 29 November 2016

The clinical outcome study for dysferlinopathy: an international multicenter study.
Harris, E., Bladen, C.L., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F.E., Rufibach, L., Cnaan, A., Bharucha-Goebel, D.X., Blamire, A.M., Bravver, E., Carlier, P.G., Day, J.W., Díaz-Manera, J., Eagle, M., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Harms, M., Jones, K.J., Lochmüller, H., Mendell, J.R., Mori-Yoshimura, M., Paradas, C., Pegoraro, E., Pestronk, A., Salort-Campana, E., Schreiber-Katz, O., Semplicini, C., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Stojkovic, T., Straub, V., Takeda, S., Rocha, C.T., Walter, M.C. and Bushby, K.
Neurology Genetics 2 (4): e89. 4 August 2016

Cardiac involvement in myotonic dystrophy type 2 patients with preserved ejection fraction: Detection by cardiovascular magnetic resonance.
Schmacht, L., Traber, J., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Utz, W., Dieringer, M.A., Kellman, P., Blaszczyk, E. ORCID: https://orcid.org/0000-0001-7370-1690, von Knobelsdorff-Brenkenhoff, F. ORCID: https://orcid.org/0000-0003-0745-6062, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092
Circulation Cardiovascular Imaging 9 (7): e004615. July 2016

A molecular signature of myalgia in myotonic dystrophy 2.
Moshourab, R. ORCID: https://orcid.org/0000-0002-9180-8472, Palada, V. ORCID: https://orcid.org/0000-0002-5539-927X, Grunwald, S. ORCID: https://orcid.org/0000-0002-3899-5424, Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Lewin, G.R. ORCID: https://orcid.org/0000-0002-2890-6352 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
EBioMedicine 7 : 205-211. May 2016

Full-length dysferlin transfer by the hyperactive Sleeping Beauty transposase restores dysferlin-deficient muscle.
Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Schöwel, V., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244 and Izsvák, Z. ORCID: https://orcid.org/0000-0002-2053-2384
Molecular Therapy - Nucleic Acids 5 : e277. 19 January 2016

Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.
Philippi, S., Lorain, S., Beley, C., Peccate, C., Precigout, G., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Garcia, L.
Human Molecular Genetics 24 (14): 4049-4060. 15 July 2015

Cavin 1 function does not follow caveolar morphology.
Timmel, T., Kunz, S. ORCID: https://orcid.org/0000-0002-0131-3506, Seifert, F., Schuelke, M. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
American Journal of Physiology Cell Physiology 308 (12): C1023-C1030. 15 June 2015

Small molecules dorsomorphin and LDN-193189 inhibit myostatin/GDF8 signaling and promote functional myoblast differentiation.
Horbelt, D., Boergermann, J.H., Chaikuad, A., Alfano, I., Williams, E., Lukonin, I., Timmel, T., Bullock, A.N. and Knaus, P.
Journal of Biological Chemistry 290 (6): 3390-3404. 6 February 2015

Human satellite cells have regenerative capacity and are genetically manipulable.
Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Escobar, H. ORCID: https://orcid.org/0000-0002-8128-7845, Gloy, S., Kufeld, M., Zacher, J., Spuler, A., Birchmeier, C. ORCID: https://orcid.org/0000-0002-2041-8872, Izsvák, Z. ORCID: https://orcid.org/0000-0002-2053-2384 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Journal of Clinical Investigation 124 (10): 4257-4265. 1 October 2014

Long term recovery in critical illness myopathy is complete, contrary to polyneuropathy.
Koch, S., Wollersheim, T., Bierbrauer, J., Haas, K., Mörgeli, R., Deja, M., Spies, C.D., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Krebs, M. and Weber-Carstens, S.
Muscle & Nerve 50 (3): 431-436. September 2014

Lipid accumulation in dysferlin-deficient muscles.
Grounds, M.D., Terrill, J., Radley-Crabb, H., Robertson, T., Papadimitriou, J., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Shavlakadze, T.
American Journal of Pathology 184 (6): 1668-1676. June 2014

Identifying dynamic membrane structures with atomic-force microscopy and confocal imaging.
Timmel, T., Schuelke, M. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Microscopy and Microanalysis 20 (2): 514-520. April 2014

Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy.
Langhans, C., Weber-Carstens, S., Schmidt, F., Hamati, J., Kny, M. ORCID: https://orcid.org/0000-0001-7132-8079, Zhu, X. ORCID: https://orcid.org/0000-0001-7858-1114, Wollersheim, T., Koch, S., Krebs, M., Schulz, H. ORCID: https://orcid.org/0000-0002-0226-964X, Lodka, D. ORCID: https://orcid.org/0009-0009-3317-6487, Saar, K. ORCID: https://orcid.org/0000-0002-4483-1557, Labeit, S., Spies, C., Hubner, N. ORCID: https://orcid.org/0000-0002-1218-6223, Spranger, J., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Boschmann, M. ORCID: https://orcid.org/0000-0002-0114-7114, Dittmar, G. ORCID: https://orcid.org/0000-0003-3647-8623, Butler-Browne, G., Mouly, V. and Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045
PLoS ONE 9 (3): e92048. 20 March 2014

Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness.
Wollersheim, T., Woehlecke, J., Krebs, M., Hamati, J., Lodka, D. ORCID: https://orcid.org/0009-0009-3317-6487, Luther-Schroeder, A., Langhans, C., Haas, K., Radtke, T., Kleber, C., Spies, C., Labeit, S., Schuelke, M., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Spranger, J., Weber-Carstens, S. and Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045
Intensive Care Medicine 40 (4): 528-538. 15 February 2014

Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
Pakula, A., Schneider, J. ORCID: https://orcid.org/0000-0001-8810-0492, Janke, J. ORCID: https://orcid.org/0000-0003-0113-4118, Zacharias, U., Schulz, H. ORCID: https://orcid.org/0000-0002-0226-964X, Hübner, N. ORCID: https://orcid.org/0000-0002-1218-6223, Mähler, A. ORCID: https://orcid.org/0000-0002-3904-5789, Spuler, A., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Carlier, P. and Boschmann, M. ORCID: https://orcid.org/0000-0002-0114-7114
PLoS ONE 8 (9): e73573. 3 September 2013

Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers.
Raith, M., Valencia, R.G., Fischer, I., Orthofer, M., Penninger, J.M., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Rezniczek, G.A. and Wiche, G.
Skeletal Muscle 3 (1): 14. 12 June 2013

Critical illness myopathy and GLUT4 - significance of insulin and muscle contraction.
Weber-Carstens, S., Schneider, J. ORCID: https://orcid.org/0000-0001-8810-0492, Wollersheim, T., Assmann, A., Bierbrauer, J., Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Al Hasani, H., Chadt, A., Wenzel, K., Koch, S., Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045, Kleber, C., Faust, K., Mai, K., Spies, C.D., Luft, F.C. ORCID: https://orcid.org/0000-0002-8635-1199, Boschmann, M. ORCID: https://orcid.org/0000-0002-0114-7114, Spranger, J. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
American Journal of Respiratory and Critical Care Medicine 187 (4): 387-396. 15 February 2013

Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.
Schoewel, V., Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Kunz, S. ORCID: https://orcid.org/0000-0002-0131-3506, Overkamp, T., Siegert Carrazedo, R., Zacharias, U., Daniel, P.T. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
PLoS ONE 7 (11): e49603. 20 November 2012

Sarcolemmal repair is a slow process and includes EHD2.
Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Schoewel, V. ORCID: https://orcid.org/0000-0002-5924-3088, Timmel, T., Schulze, A., Shah, C., Daumke, O. ORCID: https://orcid.org/0000-0002-6190-1414 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Traffic 13 (9): 1286-1294. September 2012

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
Hennermann, J.B., Berger, J.M., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Scharer, G. and Van Hove, J.L.K.
Journal of Inherited Metabolic Disease 35 (2): 253-61. March 2012

Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy.
Philippi, S., Bigot, A., Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Mouly, V., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Zacharias, U.
PLoS Currents 4 : RRN1298. 28 February 2012

Early type II fiber atrophy in intensive care unit patients with nonexcitable muscle membrane.
Bierbrauer, J., Koch, S., Olbricht, C., Hamati, J., Lodka, D. ORCID: https://orcid.org/0009-0009-3317-6487, Schneider, J. ORCID: https://orcid.org/0000-0001-8810-0492, Luther-Schroeder, A., Kleber, C., Faust, K., Wiesener, S., Spies, C.D., Spranger, J., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045 and Weber-Carstens, S.
Critical Care Medicine 40 (2): 647-650. February 2012

Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
Zacharias, U., Purfürst, B. ORCID: https://orcid.org/0000-0002-9887-7577, Schoewel, V., Morano, I. ORCID: https://orcid.org/0000-0001-7315-2222, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Haase, H.
Journal of Muscle Research and Cell Motility 32 (4-5): 271-280. December 2011

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.
Mamchaoui, K., Trollet, C., Bigot, A., Negroni, E., Chaouch, S., Wolff, A., Kandalla, P.K., Marie, S., Di Santo, J., St Guily, J.L., Muntoni, F., Kim, J., Philippi, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Levy, N., Blumen, S.C., Voit, T., Wright, W.E., Aamiri, A., Butler-Browne, G. and Mouly, V.
Skeletal Muscle 1 (1): 34. 1 November 2011

STAT1 signaling is not regulated by a phosphorylation-acetylation switch.
Antunes, F., Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244 and Vinkemeier, U.
Molecular and Cellular Biology 31 (14): 3029-3037. July 2011

Cytokine-induced paracrystals prolong the activity of signal transducers and activators of transcription (STAT) and provide a model for the regulation of protein solubility by small ubiquitin-like modifier (SUMO).
Droescher, M., Begitt, A., Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, Zacharias, M. and Vinkemeier, U.
Journal of Biological Chemistry 286 (21): 18731-18746. 27 May 2011

Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Stroux, A., Kuschel, F., Kuhlmey, A. and Kendel, F.
BMC Health Services Research 11 : 91. 4 May 2011

Critical illness myopathy is frequent: accompanying neuropathy protracts ICU discharge.
Koch, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Deja, M., Bierbrauer, J., Dimroth, A., Behse, F., Spies, C.D., Wernecke, K.D. and Weber-Carstens, S.
Journal of Neurology Neurosurgery and Psychiatry 82 (3): 287-293. March 2011

Skeletal muscle 11beta-HSD1 controls glucocorticoid-induced proteolysis and expression of E3 ubiquitin ligases atrogin-1 and MuRF-1.
Biedasek, K., Andres, J., Mai, K., Adams, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045 and Spranger, J.
PLoS ONE 6 (1): e16674. 31 January 2011

Clinical features of facioscapulohumeral muscular dystrophy 2.
de Greef, J.C., Lemmers, R.J., Camano, P., Day, J.W., Sacconi, S., Dunand, M., van Engelen, B.G., Kiuru-Enari, S., Padberg, G.W., Rosa, A.L., Desnuelle, C., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Tarnopolsky, M., Venance, S.L., Frants, R.R., van der Maarel, S.M. and Tawil, R.
Neurology 75 (17): 1548-1554. 26 October 2010

Risk factors in critical illness myopathy during the early course of critical illness: a prospective observational study.
Weber-Carstens, S., Deja, M., Koch, S., Spranger, J., Bubser, F., Wernecke, K.D., Spies, C.D., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Keh, D.
Critical Care 14 (3): R119. 18 June 2010

Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Krug, H., Klein, C., Medialdea, I.C., Jakob, W., Ebersbach, G., Gruber, D., Hoffmann, K.T., Trottenberg, T. and Kupsch, A.
Movement Disorders 25 (5): 552-559. 15 April 2010

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
Boschmann, M. ORCID: https://orcid.org/0000-0002-0114-7114, Engeli, S., Moro, C., Luedtke, A., Adams, F., Gorzelniak, K., Rahn, G., Mähler, A. ORCID: https://orcid.org/0000-0002-3904-5789, Dobberstein, K., Krueger, A., Schmidt, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Luft, F.C. ORCID: https://orcid.org/0000-0002-8635-1199, Smith, S.R., Schmidt, H.H. and Jordan, J. ORCID: https://orcid.org/0000-0003-4518-0706
Journal of Clinical Endocrinology and Metabolism 95 (4): 1634-1643. April 2010

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab, A., Straub, V., McCann, L.J., Seelow, D. ORCID: https://orcid.org/0000-0002-9746-4412, Varon, R., Barresi, R., Schulze, A., Lucke, B., Luetzkendorf, S., Karbasiyan, M., Bachmann, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Schuelke, M.
PLoS Genetics 6 (3): e1000874. 12 March 2010

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch, H., Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Adams, S., Budde, B., Rudolph, A., Zacharias, U., Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092, Spuler, A., Yaou, R.B., Nuernberg, P., Voit, T., Bonne, G. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Annals of Neurology 67 (1): 136-140. January 2010

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau, L., Bertrand, A.T., Jais, J.P., Salih, M.A., Stojkovic, T., Wehnert, M., Hoeltzenbein, M., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Saitoh, S., Verschueren, A., Tranchant, C., Beuvin, M., Lacene, E., Romero, N.B., Heath, S., Zelenika, D., Voit, T., Eymard, B., Ben Yaou, R. and Bonne, G.
American Journal of Human Genetics 85 (3): 338-353. September 2009

Nonexcitable muscle membrane predicts intensive care unit-acquired paresis in mechanically ventilated, sedated patients.
Weber-Carstens, S., Koch, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Spies, C.D., Bubser, F., Wernecke, K.D. and Deja, M.
Critical Care Medicine 37 (9): 2632-2637. September 2009

Free fatty acids link metabolism and regulation of the insulin-sensitizing fibroblast growth factor-21.
Mai, K., Andres, J., Biedasek, K., Weicht, J., Bobbert, T., Sabath, M., Meinus, S., Reinecke, F., Moehlig, M., Weickert, M.O., Clemenz, M., Pfeiffer, A.F., Kintscher, U., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Spranger, J.
Diabetes 58 (7): 1532-1538. July 2009

Amyloidose bei Muskeldystrophie [Amyloidosis in muscular dystrophy].
Carl, M., Roecken, C. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Pathologe 30 (3): 235-239. May 2009

Dysferlin-deficient muscular dystrophy: Gadofluorine M suitability at MR imaging in a mouse model.
Schmidt, S., Vieweger, A., Obst, M., Mueller, S., Gross, V., Gutberlet, M., Steinbrink, J., Taubert, S., Misselwitz, B., Luedemann, L. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Radiology 250 (1): 87-94. January 2009

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Gehmlich, K. ORCID: https://orcid.org/0000-0003-4019-1844, Ehler, E., Hassfeld, S., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Hayess, K., Cardim, N., Wenzel, K., Erdmann, B., Krackhardt, F., Posch, M.G., Bublak, A., Naegele, H., Scheffold, T., Dietz, R., Chien, K.R., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Fuerst, D.O., Nuernberg, P. and Oezcelik, C.
Human Molecular Genetics 17 (18): 2753-2765. 15 September 2008

Dysferlin-deficient muscular dystrophy features amyloidosis.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Carl, M., Zabojszcza, J. ORCID: https://orcid.org/0000-0001-8810-0492, Straub, V., Bushby, K., Moore, S.A., Bähring, S. ORCID: https://orcid.org/0000-0001-8734-9755, Wenzel, K., Vinkemeier, U. and Rocken, C.
Annals of Neurology 63 (3): 323-328. March 2008

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
Meyer, T., Jurkat-Rott, K., Huebner, A., Lehmann-Horn, F., Linke, P., Van Landeghem, F., Dullinger, J.S. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Muscle & nerv 37 (1): 120-124. January 2008

Dysfunction of dysferlin-deficient hearts.
Wenzel, K., Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Qadri, F. ORCID: https://orcid.org/0000-0002-8500-489X, Huebner, N. ORCID: https://orcid.org/0000-0002-1218-6223, Schulz, H. ORCID: https://orcid.org/0000-0002-0226-964X, Erdmann, B., Gross, V., Bauer, D., Dechend, R. ORCID: https://orcid.org/0000-0001-6636-3080, Dietz, R., Osterziel, K.J., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Oezcelik, C.
Journal of Molecular Medicine 85 (11): 1203-1214. November 2007

Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy.
Luedtke, A., Buettner, J., Wu, W., Muchir, A., Schroeter, A., Zinn-Justin, S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Schmidt, H.H. and Worman, H.J.
Journal of Clinical Endocrinology and Metabolism 92 (6): 2248-2255. June 2007

Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Kalbhenn, T., Zabojszcza, J. ORCID: https://orcid.org/0000-0001-8810-0492, van Landeghem, F.K., Ludtke, A., Wenzel, K., Koehnlein, M., Schuelke, M., Luedemann, L. and Schmidt, H.H.
Neurology 68 (9): 677-683. 27 February 2007

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
Diers, A., Carl, M., Stoltenburg-Didinger, G., Vorgerd, M. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Neuromuscular Disorders 17 (2): 157-162. February 2007

Interdisziplinaere Leitlinien zur Diagnostik und Therapie der extrazerebralen Amyloidosen: Herausgegeben von der Deutschen Gesellschaft fuer Amyloid-Krankheiten e. V. (www.amyloid.de) [Interdisciplinary guidelines for diagnosis and therapy of extracerebral amyloidosis: issued by the German Society of Amyloid Diseases e. V. (www.amyloid.de)].
Roecken, C., Ernst, J., Hund, E., Michels, H., Perz, J., Saeger, W., Sezer, O., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Willig, F. and Schmidt, H.H.
Medizinische Klinik 101 (10): 825-829. 15 October 2006

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
Wenzel, K., Carl, M., Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Zabojszcza, J. ORCID: https://orcid.org/0000-0001-8810-0492, Assadi, M., Ebeling, M., Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Robinson, P.N., Kress, W., Osterziel, K.J. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Human Mutation 27 : 599-600. June 2006

Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy.
Wenzel, K., Zabojszcza, J. ORCID: https://orcid.org/0000-0001-8810-0492, Carl, M., Taubert, S., Lass, A., Harris, C.L., Ho, M., Schulz, H. ORCID: https://orcid.org/0000-0002-0226-964X, Hummel, O. ORCID: https://orcid.org/0009-0000-9986-8333, Hubner, N. ORCID: https://orcid.org/0000-0002-1218-6223, Osterziel, K.J. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Journal of Immunology 175 (9): 6219-6225. 1 November 2005

Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone.
Luedtke, A., Heck, K., Genschel, J., Mehnert, H., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Worman, H.J. and Schmidt, H.H.
Diabetic Medicine 22 (11): 1611-1613. November 2005

Differenzialdiagnostik eines kongenitalen myasthenen Syndroms [Differential congenital myasthenia syndrome diagnosis].
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Lehmann, T.N. and Engel, A.G.
Nervenarzt 75 (2): 141-144. February 2004

Myasthenia gravis: selective enrichment of antiacetylcholine receptor antibody production in untransformed human B cell cultures.
Padberg, F., Matsuda, M., Fenk, R., Patenge, N., Kubuschok, B., Hohlfeld, R., Wekerle, H. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
European Journal of Immunology 29 (11): 3538-3548. November 1999

Myasthenia gravis: Opportunistische Zytomegalievirus-Infektion nach langzeitiger Azathioprin-Therapie [Myasthenia gravis. Opportunistic cytomegalovirus infection after long-term azathioprine therapy].
Eisensehr, I., Buettner, U., Witt, T.N., von Appen, K. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Nervenarzt 70 (10): 924-926. October 1999

Amyloid myopathy: an underdiagnosed entity.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Emslie-Smith, A. and Engel, A.G.
Annals of Neurology 43 (6): 719-728. June 1998

Unexpected sarcolemmal complement membrane attack complex deposits on nonnecrotic muscle fibers in muscular dystrophies.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Engel, A.G.
Neurology 50 (1): 41-46. 1 January 1998

Highly purified oligo-His tagged human recombinant alpha(1)-AChR is immunogenic in vivo and suitable for T cell stimulation in vitro in experimental and human myasthenia gravis.
Voltz, R., Kamm, C., Padberg, F., Malotka, J., Kerschensteiner, M., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Tzartos, S. and Dornmair, K.
Journal of Neuroimmunology 80 (1-2): 131-136. December 1997

Quantitative assessment of MRI lesion load in multiple sclerosis. A comparison of conventional spin-echo with fast fluid-attenuated inversion recovery.
Filippi, M., Yousry, T., Baratti, C., Horsfield, M.A., Mammi, S., Becker, C., Voltz, R., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Campi, A., Reiser, M.F. and Comi, G.
Brain 119 (4): 1349-1355. August 1996

Multiple sclerosis: prospective analysis of TNF-alpha and 55 kDa TNF receptor in CSF and serum in correlation with clinical and MRI activity.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Yousry, T., Scheller, A., Voltz, R., Holler, E., Hartmann, M., Wick, M. and Hohlfeld, R.
Journal of Neuroimmunology 66 (1-2): 57-64. May 1996

Thymoma-associated myasthenia gravis. Transplantation of thymoma and extrathymomal thymic tissue into SCID mice.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Sarropoulos, A., Marx, A., Hohlfeld, R. and Wekerle, H.
American Journal of Pathology 148 (5): 1359-1365. May 1996

Comparison of triple dose versus standard dose gadolinium-DTPA for detection of MRI enhancing lesions in patients with MS.
Filippi, M., Yousry, T., Campi, A., Kandziora, C., Colombo, B., Voltz, R., Martinelli, V., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Bressi, S., Scotti, G. and Comi, G.
Neurology 46 (2): 379-384. February 1996

The role of autoimmune T lymphocytes in the pathogenesis of multiple sclerosis.
Hohlfeld, R., Meinl, E., Weber, F., Zipp, F. ORCID: https://orcid.org/0000-0002-1231-1928, Schmidt, S., Sotgiu, S., Goebels, N., Voltz, R., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Iglesias, A.
Neurology 45 (6 Suppl 6): S33-S38. June 1995

Myogenesis in thymic transplants in the severe combined immunodeficient mouse model of myasthenia gravis. Differentiation of thymic myoid cells into striated muscle cells.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Marx, A., Kirchner, T., Hohlfeld, R. and Wekerle, H.
American Journal of Pathology 145 (4): 766-770. October 1994

Myelin basic protein-specific T lymphocyte repertoire in multiple sclerosis. Complexity of the response and dominance of nested epitopes due to recruitment of multiple T cell clones.
Meinl, E., Weber, F., Drexler, K., Morelle, C., Ott, M., Saruhan-Direskeneli, G., Goebels, N., Ertl, B., Jechart, G., Giegerich, G., Schoenbeck, S. ORCID: https://orcid.org/0000-0002-0155-1117, Bannwarth, W., Wekerle, H. and Hohlfeld, R.
Journal of Clinical Investigation 92 (6): 2633-2643. December 1993

Transplantation of myasthenia gravis thymus to SCID mice.
Schoenbeck, S. ORCID: https://orcid.org/0000-0002-0155-1117, Padberg, F., Marx, A., Hohlfeld, R. and Wekerle, H.
Annals of the New York Academy of Sciences 681 : 66-73. 21 June 1993

Transplantation of thymic autoimmune microenvironment to severe combined immunodeficiency mice. A new model of myasthenia gravis.
Schoenbeck, S. ORCID: https://orcid.org/0000-0002-0155-1117, Padberg, F., Hohlfeld, R. and Wekerle, H.
Journal of Clinical Investigation 90 (1): 245-250. July 1992

Book Section

Therapien zum Zellersatz mit adulten Stammzelltypen.
Besser, D. ORCID: https://orcid.org/0000-0002-4958-9624, Bönig, H.B., Giebel, B., Klump, H. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
In: Gen- und Zelltherapie 2.023 - Forschung, klinische Anwendung und Gesellschaft. Springer, Berlin, Heidelberg, Germany, 217-232. ISBN 978-3-662-67908-1 30 December 2023

Review

Mesoangioblasts at 20: from the embryonic aorta to the patient bed.
Cossu, G., Tonlorenzi, R., Brunelli, S., Sampaolesi, M., Messina, G., Azzoni, E., Benedetti, S., Biressi, S., Bonfanti, C., Bragg, L., Camps, J., Cappellari, O., Cassano, M., Ciceri, F., Coletta, M., Covarello, D., Crippa, S., Cusella-De Angelis, M.G., De Angelis, L., Dellavalle, A., Diaz-Manera, J., Galli, D., Galli, F., Gargioli, C., Gerli, M.F.M., Giacomazzi, G., Galvez, B.G., Hoshiya, H., Guttinger, M., Innocenzi, A., Minasi, M.G., Perani, L., Previtali, S.C., Quattrocelli, M., Ragazzi, M., Roostalu, U., Rossi, G., Scardigli, R., Sirabella, D., Tedesco, F.S., Torrente, Y. and Ugarte, G.
Frontiers in Genetics 13 : 1056114. 4 January 2023

Tissue engineering for the diaphragm and its various therapeutic possibilities - a systematic review.
Boehm, A.K. ORCID: https://orcid.org/0000-0002-4907-3097, Hillebrandt, K.H. ORCID: https://orcid.org/0000-0002-5114-6590, Dziodzio, T., Krenzien, F., Neudecker, J., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Pratschke, J., Sauer, I.M. and Andreas, M.N.
Advanced Therapeutics 5 (8): 2100247. 18 August 2022

Myogenic cell transplantation in genetic and acquired diseases of skeletal muscle.
Boyer, O., Butler-Browne, G., Chinoy, H., Cossu, G., Galli, F., Lilleker, J.B., Magli, A., Mouly, V., Perlingeiro, R.R., Previtali, S.C., Sampaolesi, M., Smeets, H., Schoewel-Wolf, V. ORCID: https://orcid.org/0000-0002-5924-3088, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Torrente, Y. and Van Tienen, F.
Frontiers in Genetics 12 : 702547. August 2021

eATP/P2X7R axis: an orchestrated pathway triggering inflammasome activation in muscle diseases.
Panicucci, C., Raffaghello, L., Bruzzone, S., Baratto, S., Principi, E., Minetti, C., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302 and Bruno, C.
International Journal of Molecular Sciences 21 (17): 5963. 19 August 2020

Kardiomyopathien bei Muskeldystrophien [Cardiomyopathy in muscular dystrophies].
Blaszczyk, E. ORCID: https://orcid.org/0000-0001-7370-1690, Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Schmacht, L., Lim, C., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092
Aktuelle Kardiologie 6 (06): 454-460. 2017

The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies.
Bhattarai, S., Ghannam, K., Krause, S., Benveniste, O., Marg, A. ORCID: https://orcid.org/0000-0003-3673-4244, de Bruin, G., Xin, B.T., Overkleeft, H.S., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Stenzel, W. and Feist, E.
Journal of Autoimmunity 75 : 118-129. December 2016

Interdisziplinaere Leitlinien zur Diagnostik und Therapie der extrazerebralen Amyloidosen -- Herausgegeben von der Deutschen Gesellschaft fuer Amyloid-Krankheiten e.V. (www.amyloid.de) [Interdisciplinary guidelines on diagnosis and treatment for extracerebral amyloidoses--published by the German Society of Amyloid Diseases (www.amyloid.de)].
Röcken, C., Ernst, J., Hund, E., Michels, H., Perz, J., Saeger, W., Sezer, O., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Willig, F. and Schmidt, H.H.
Deutsche Medizinische Wochenschrift 131 (27 Suppl 2): S45-S66. 7 July 2006

Kardiale Manifestationen bei Muskeldystrophien [Cardiac manifestations of muscular dystrophies].
Perrot, A. ORCID: https://orcid.org/0000-0002-8800-342X, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Dietz, R. and Osterziel, K.J.
Zeitschrift fuer Kardiologie 94 : 312-320. 1 January 2005

Aktuelle Therapie der multiplen Sklerose: Mitoxantron [Current therapy of multiple sclerosis: mitoxantrone].
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Hohlfeld, R.
Nervenarzt 65 (2): 136-138. February 1994

Letter

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
Moore, U.R., Jacobs, M., Fernandez-Torron, R., Jang, J., James, M.K., Mayhew, A., Rufibach, L., Mittal, P., Eagle, M., Cnaan, A., Carlier, P.G., Blamire, A., Hilsden, H., Lochmüller, H., Grieben, U. ORCID: https://orcid.org/0000-0002-6252-8738, Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Tesi Rocha, C., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M.C., Paradas, C., Hogrel, J.Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Diaz-Manera, J., Bello, L. ORCID: https://orcid.org/0000-0002-3075-6525, Semplicini, C., Pegoraro, E., Mendell, J.R., Bushby, K. and Straub, V.
Journal of Neurology Neurosurgery and Psychiatry 89 (11): 1224-1226. November 2018

Camptocormia and myopathy.
Deuschl, G., Margraf, N., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Kupsch, A. and Schulz-Schaeffer, W.J.
Movement Disorders 25 (15): 2689-2690. 15 November 2010

Another side to statin-related side effects.
Knoblauch, H., Schoewel, V., Kress, W., Rosada, A. and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Annals of Internal Medicine 152 (7): 478-479. 6 April 2010

A new LMNA mutation causing limb girdle muscular dystrophy 1B.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Geier, C. ORCID: https://orcid.org/0000-0001-5281-8187, Osterziel, K.J., Gutberlet, M., Genschel, J., Lehmann, T.N., Zinn-Justin, S., Gilquin, B. and Schmidt, H.
Journal of Neurology 252 (5): 621-623. May 2005

SMI-31 immunoreactivity in inclusion body myositis.
Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117 and Engel, A.G.
Annals of Neurology 42 (5): 815. November 1997

Multiple sclerosis: longitudinal measurement of interleukin-1 receptor antagonist.
Voltz, R., Hartmann, M., Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117, Scheller, A., Mai, N., Hohlfeld, R. and Yousry, T.
Journal of Neurology Neurosurgery and Psychiatry 62 (2): 200-201. February 1997

Editorial

Pluripotent stem cell-based therapy toward the clinic for muscular dystrophy.
Escobar, Helena ORCID: https://orcid.org/0000-0002-8128-7845
Molecular Therapy 33 (10): 4670-4672. 1 October 2025

Epigenetic chaperoning of aging.
Müthel, S. ORCID: https://orcid.org/0000-0002-3525-8859 and Tursun, B. ORCID: https://orcid.org/0000-0001-7293-8629
Aging 12 (2): 1044-1046. 31 January 2020

Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.
Meraviglia, V., Benzoni, P., Landi, S., Murano, C., Langione, M., Motta, B.M., Baratto, S., Silipigni, R., Di Segni, M., Pramstaller, P.P., DiFrancesco, D., Gazzerro, E. ORCID: https://orcid.org/0000-0003-2428-0302, Barbuti, A. and Rossini, A.
Stem Cell Research 27 : 25-29. March 2018

Master and commander? FoxO's role in muscle atrophy.
Langer, H.T. ORCID: https://orcid.org/0000-0003-1838-4279
Journal of Physiology 595 (14): 4593-4594. 15 July 2017

Cardiac involvement in sporadic inclusion-body myositis.
Utz, W., Schmidt, S., Schulz-Menger, J. ORCID: https://orcid.org/0000-0003-3100-1092, Luft, F. ORCID: https://orcid.org/0000-0002-8635-1199 and Spuler, S. ORCID: https://orcid.org/0000-0002-0155-1117
Circulation 121 (5): 706-708. 9 February 2010

Dataset

Additional file 6 of Comparison of different decellularization protocols for porcine centrum tendineum diaphragmatis and diaphragmatic muscle – a base for effective recellularization.
Gaag, Bruno F., Tang, Peter, Klein, Oliver, Moosburner, Simon, Böhm, Agnes K., Lohmann, Theresa, Wieland, Jonas K., Contes, Victoria, Zhou, Yijun, Keshi, Eriselda, Haderer, Luna, Metzler, Eric ORCID: https://orcid.org/0000-0003-1735-6364, Schöwel-Wolf, Verena, Spuler, Simone ORCID: https://orcid.org/0000-0002-0155-1117, Rückert, Jens-Carsten, Pratschke, Johann, Sauer, Igor M., Andreas, Marco N. and Hillebrandt, Karl H.
[Dataset] 28 January 2026

Additional file 7 of Comparison of different decellularization protocols for porcine centrum tendineum diaphragmatis and diaphragmatic muscle – a base for effective recellularization.
Gaag, Bruno F., Tang, Peter, Klein, Oliver, Moosburner, Simon, Böhm, Agnes K., Lohmann, Theresa, Wieland, Jonas K., Contes, Victoria, Zhou, Yijun, Keshi, Eriselda, Haderer, Luna, Metzler, Eric ORCID: https://orcid.org/0000-0003-1735-6364, Schöwel-Wolf, Verena, Spuler, Simone ORCID: https://orcid.org/0000-0002-0155-1117, Rückert, Jens-Carsten, Pratschke, Johann, Sauer, Igor M., Andreas, Marco N. and Hillebrandt, Karl H.
[Dataset] 28 January 2026