Browse by Research Team

2025

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy.
Escobar, H., Di Francescantonio, S., Smirnova, J., Graf, R., Müthel, S., Marg, A., Zhogov, A., Krishna, S., Metzler, E., Petkova, M., Daumke, O., Kühn, R. and Spuler, S.
Nature Communications 16 (1): 120. 2 January 2025

Lessons from a negative gene therapy trial for Duchenne muscular dystrophy.
Spuler, S., Borasio, G.D. and Grittner, U.
Nature Medicine 31 (1): 37-38. January 2025

2024

Advanced peptide nanoparticles enable robust and efficient delivery of gene editors across cell types.
Gustafsson, O., Krishna, S., Borate, S., Ghaeidamini, M., Liang, X., Saher, O., Cuellar, R., Birdsong, B.K., Roudi, S., Estupiñán, Y.H., Alici, E., Smith, E.C.I., Esbjörner, E.K., Spuler, S.K., de Jong, O.G., Escobar, H., Nordin, J.Z. and Andaloussi, S.E.L.
bioRxiv : 2024.11.27.624305. 4 December 2024

Improving clinical documentation of rare neuromuscular diseases: development of a standardised information model.
Hübner, M., Nyoungui, E., Gazzero, E., 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., Gazzerro, E., Schoenrath, F., Falk, V., Rost, S., Hoerning, S., Jelting, Y., Zaum, A.K., Spuler, S. and Knierim, J.
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., Gazzerro, E., Fiorillo, C., Baratto, S., Bartolucci, C., Severi, S., Milanesi, R., Lippi, M., Langione, M., Murano, C., Meoni, C., Popolizio, V., Cospito, A., Baruscotti, M., Bucchi, A. and Barbuti, A.
International Journal of Molecular Sciences 25 (2): 980. 12 January 2024

2023

Therapien zum Zellersatz mit adulten Stammzelltypen.
Besser, D., Bönig, H.B., Giebel, B., Klump, H. and Spuler, S.
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

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., 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., Panza, E., Cuozzo, M., Moriello, C., Piscitelli, F., Abolghasemi, A., Gazzerro, E., Silvestri, C., Capasso, R., Motta, A., Russo, R., Di Marzo, V. and Iannotti, F.A.
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., 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. 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., Marg, A., Ignak, B., Kieshauer, J., Escobar, H., Stadelmann, C. and Spuler, S.
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., Sundaravinayagam, D., Blume, A., Marg, A., Grunwald, S., Metzler, E., Escobar, H., Müthel, S., Wang, H., Wollersheim, T., Weber-Carstens, S., Akalin, A., Di Virgilio, M., Tursun, B. and Spuler, S.
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, Müller, Christina, Maron, Elke, Thielen, Markus, Schätzl, Teresa, Mähler, A., Schütte, T., Boschmann, M., Herzer, René, Spuler, S. and Gazzerro, E.
Frontiers in Physiology 14 : 1057592. 26 January 2023

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

2022

Exercise blood-drop metabolic profiling links metabolism with perceived exertion.
Opialla, T., Gollasch, B., Kuich, P.H.J.L., Klug, L., Rahn, G., Busjahn, A., Spuler, S., Boschmann, M., Kirwan, J.A., Luft, F.C. and Kempa, S.
Frontiers in Molecular Biosciences 9 : 1042231. 21 December 2022

LMNA co-regulated gene expression as a suitable readout after precise gene correction.
Wang, H., Krause, A., Escobar, H., Müthel, S., Metzler, E. and Spuler, S.
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., Schöwel-Wolf, V., Kieshauer, J., Marg, A., Busjahn, A., Davis, S., Nugent, G., Ebert, A.K. and Spuler, S.
Animal Models and Experimental Medicine 5 (5): 453-460. October 2022

Stammzelltherapien für Muskeldystrophien.
Escobar, H.
BIOspektrum 28 : 493–496. September 2022

Tissue engineering for the diaphragm and its various therapeutic possibilities - a systematic review.
Boehm, A.K., Hillebrandt, K.H., Dziodzio, T., Krenzien, F., Neudecker, J., Spuler, S., Pratschke, J., Sauer, I.M. and Andreas, M.N.
Advanced Therapeutics 5 (8): 2100247. 18 August 2022

Therapeutic targeting of ATR in alveolar rhabdomyosarcoma.
Dorado Garcia, H., Pusch, F., Bei, Y., von Stebut, J., Ibáñez, G., Guillan, K., Imami, K., Gürgen, D., Rolff, J., Helmsauer, K., Meyer-Liesener, S., Timme, N., Bardinet, V., Chamorro González, R., MacArthur, I.C., Chen, C.Y., Schulz, J., Wengner, A.M., Furth, C., Lala, B., Eggert, A., Seifert, G., Hundsoerfer, P., Kirchner, M., Mertins, P., Selbach, M., Lissat, A., Dubois, F., Horst, D., Schulte, J.H., Spuler, S., You, D., Dela Cruz, F., Kung, A.L., Haase, K., Di Virgilio, M., Scheer, M., Ortiz, M.V. and Henssen, A.G.
Nature Communications 13 (1): 4297. 25 July 2022

mRNA-mediated delivery of gene editing tools to human primary muscle stem cells.
Stadelmann, C., Di Francescantonio, S., Marg, A., Müthel, S., Spuler, S. and Escobar, H.
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., Escobar, H., Sunaga-Franze, D.Y., Sauer, S., Diecke, S. and Spuler, S.
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., 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., Gordish, H., Diaz-Manera, J., James, M.K., Mayhew, A.G., Harris, E., Guglieri, M., Rufibach, L.E., Feng, J., Blamire, A.M., Carlier, P.G., Spuler, S., 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.
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., 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., Haafke, S., Grieben, U., Kassner, U., Steinhagen-Thiessen, E. and Spuler, S.
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., Spuler, S., 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., Principi, E., Baratto, S., Panicucci, C., Pintus, S., Antonini, F., Del Zotto, G., Benzi, A., Bruzzone, S., Scudieri, P., Minetti, C., Gazzerro, E. and Bruno, C.
Pharmaceuticals 15 (1): 89. 13 January 2022

2021

Challenges in cell transplantation for muscular dystrophy.
Galli, F., Mouly, V., Butler-Browne, G. and Cossu, G.
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., Lim, C., Kellman, P., Schmacht, L., Gröschel, J., Spuler, S. and Schulz-Menger, J.
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., Koch, K., Schriever, C., Xu, J., Steinecker, M., Leber, J., Dworatzek, E., Purfürst, B., Kunz, S., Recchia, D., Canepari, M., Heuser, A., Di Francescantonio, S. and Morano, I.
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., Spira, D., Buchmann, N., Bobbert, T., Gazzerro, E., Hollstein, T., Spuler, S. and Steinhagen-Thiessen, E.
Internist 62 : 827-840. August 2021

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., Spuler, S., Torrente, Y. and Van Tienen, F.
Frontiers in Genetics 12 : 702547. August 2021

Base editing repairs an SGCA mutation in human primary muscle stem cells.
Escobar, H., Krause, A., Keiper, S., Kieshauer, J., Müthel, S., García de Paredes, M., Metzler, E., Kühn, R., Heyd, F. and Spuler, S.
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., Eagle, M., Lofra, R.M., Moore, U., Feng, J., Rufibach, L.E., Rose, K., Duong, T., Bello, L., 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., Blamire, A.M., Carlier, P.G., Spuler, S., 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., Mayhew, A.G. and Straub, V.
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., 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

2020

Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells.
Kim, M., Franke, V., Brandt, B., Lowenstein, E.D., Schöwel, V., Spuler, S., Akalin, A. and Birchmeier, C.
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., Telugu, N., Diecke, S., Spuler, S. and Escobar, H.
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., Telugu, N., Diecke, S., Spuler, S. and Escobar, H.
Stem Cell Research 48 : 101998. October 2020

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. and Bruno, C.
International Journal of Molecular Sciences 21 (17): 5963. 19 August 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., 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. and Duddy, W.J.
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., Popp, O., Haafke, S., Jedraszczak, N., Grieben, U., Saar, K., Patone, G., Kress, W., Steinhagen-Thiessen, E., Dittmar, G. and Spuler, S.
Scientific Reports 10 : 2158. 7 February 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M., Fischer, C., Urzi, A., Vidal, R., Kunz, S., Ruffault, P.L., Kabuss, L., Hube, I., Gazzerro, E., Birchmeier, C., Spuler, S., Sauer, S. and Gouti, M.
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., Afzal, S., Kempa, S. and Spuler, S.
Scientific Reports 10 : 1908. 5 February 2020

Epigenetic chaperoning of aging.
Müthel, S. and Tursun, B.
Aging 12 (2): 1044-1046. 31 January 2020

2019

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7.
Marg, A., Escobar Fernandez, H., Karaiskos, N., Grunwald, S.A., Metzler, E., Kieshauer, J., Sauer, S., Pasemann, D., Malfatti, E., Mompoint, D., Quijano-Roy, S., Boltengagen, A., Schneider, J., Schülke, M., Kunz, S., Carlier, R., Birchmeier, C., Amthor, H., Spuler, A., Kocks, C., Rajewsky, N. and Spuler, S.
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., Spies, C.D., Märdian, S., Mai, K., Spuler, S., Fielitz, J. 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., Bröhl, D., Zyrianova, T., Isomura, A., Czajkowski, M.T., Kapoor, V., Griger, J., Ruffault, P.L., Mademtzoglou, D., Zammit, P.S., Wunderlich, T., Spuler, S., Kühn, R., Preibisch, S., Wolf, J., Kageyama, R. and Birchmeier, C.
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., Grieben, U., von Knobelsdorff-Brenkenhoff, F., Kellman, P., Schmacht, L., Funk, S., Spuler, S. and Schulz-Menger, J.
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., 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., 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., Spuler, S., 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

2018

Exon skipping in a Dysf-missense mutant mouse model.
Malcher, J., Heidt, L., Goyenvalle, A., Escobar, H., Marg, A., Beley, C., Benchaouir, R., Bader, M., Spuler, S., García, L. and Schöwel, V.
Molecular Therapy - Nucleic Acids 13 : 198-207. 7 December 2018

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., Spuler, S., 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., Semplicini, C., Pegoraro, E., Mendell, J.R., Bushby, K. and Straub, V.
Journal of Neurology Neurosurgery and Psychiatry 89 (11): 1224-1226. November 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., Spuler, S., 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., 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., Saccone, V., Consalvi, S., Piscitelli, F., Gazzerro, E., Busetto, G., Carrella, D., Capasso, R., Puri, P.L., Minchiotti, G. 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., Senden, J.M.G., Gijsen, A.P., Kempa, S., van Loon, Luc J. C. and Spuler, S.
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., Francino, A., Navarro-López, F., Brenner, B. and Kraft, T.
Frontiers in Physiology 9 : 359. 9 April 2018

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., Barbuti, A. and Rossini, A.
Stem Cell Research 27 : 25-29. March 2018

An eicosanoid protects from statin-induced myopathic changes in primary human cells.
Grunwald, S.A., Popp, O., Haafke, S., Jedraszczak, N., Grieben, U., Saar, K., Patone, G., Kress, W., Steinhagen-Thiessen, E., Dittmar, G. and Spuler, S.
bioRxiv : 271932. 26 February 2018

2017

Master and commander? FoxO's role in muscle atrophy.
Langer, H.T.
Journal of Physiology 595 (14): 4593-4594. 15 July 2017

Loss of Ptpn11 (Shp2) drives satellite cells into quiescence.
Griger, J., Schneider, R., Lahmann, I., Schöwel, V., Keller, C., Spuler, S., Nazare, M. and Birchmeier, C.
eLife 6 : e21552. 2 May 2017

Localized irradiation of mouse legs using an image-guided robotic linear accelerator.
Kufeld, M., Escobar, H., Marg, A., Pasemann, D., Budach, V. and Spuler, S.
Annals of Translational Medicine 5 (7): 156. April 2017

Kardiomyopathien bei Muskeldystrophien [Cardiomyopathy in muscular dystrophies].
Blaszczyk, E., Perrot, A., Schmacht, L., Lim, C., Spuler, S. and Schulz-Menger, J.
Aktuelle Kardiologie 6 (06): 454-460. 2017

2016

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., de Bruin, G., Xin, B.T., Overkleeft, H.S., Spuler, S., Stenzel, W. and Feist, E.
Journal of Autoimmunity 75 : 118-129. December 2016

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., 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., 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., 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., Utz, W., Dieringer, M.A., Kellman, P., Blaszczyk, E., von Knobelsdorff-Brenkenhoff, F., Spuler, S. and Schulz-Menger, J.
Circulation Cardiovascular Imaging 9 (7): e004615. July 2016

A molecular signature of myalgia in myotonic dystrophy 2.
Moshourab, R., Palada, V., Grunwald, S., Grieben, U., Lewin, G.R. and Spuler, S.
EBioMedicine 7 : 205-211. May 2016

Full-length dysferlin transfer by the hyperactive Sleeping Beauty transposase restores dysferlin-deficient muscle.
Escobar, H., Schöwel, V., Spuler, S., Marg, A. and Izsvák, Z.
Molecular Therapy - Nucleic Acids 5 : e277. 19 January 2016

2015

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. 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., Seifert, F., Schuelke, M. and Spuler, S.
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

2014

Human satellite cells have regenerative capacity and are genetically manipulable.
Marg, A., Escobar, H., Gloy, S., Kufeld, M., Zacher, J., Spuler, A., Birchmeier, C., Izsvák, Z. and Spuler, S.
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., 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. 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.
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., Zhu, X., Wollersheim, T., Koch, S., Krebs, M., Schulz, H., Lodka, D., Saar, K., Labeit, S., Spies, C., Hubner, N., Spranger, J., Spuler, S., Boschmann, M., Dittmar, G., Butler-Browne, G., Mouly, V. and Fielitz, J.
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., Luther-Schroeder, A., Langhans, C., Haas, K., Radtke, T., Kleber, C., Spies, C., Labeit, S., Schuelke, M., Spuler, S., Spranger, J., Weber-Carstens, S. and Fielitz, J.
Intensive Care Medicine 40 (4): 528-538. 15 February 2014

2013

Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
Pakula, A., Schneider, J., Janke, J., Zacharias, U., Schulz, H., Hübner, N., Mähler, A., Spuler, A., Spuler, S., Carlier, P. and Boschmann, M.
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., 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., Wollersheim, T., Assmann, A., Bierbrauer, J., Marg, A., Al Hasani, H., Chadt, A., Wenzel, K., Koch, S., Fielitz, J., Kleber, C., Faust, K., Mai, K., Spies, C.D., Luft, F.C., Boschmann, M., Spranger, J. and Spuler, S.
American Journal of Respiratory and Critical Care Medicine 187 (4): 387-396. 15 February 2013

2012

Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.
Schoewel, V., Marg, A., Kunz, S., Overkamp, T., Siegert Carrazedo, R., Zacharias, U., Daniel, P.T. and Spuler, S.
PLoS ONE 7 (11): e49603. 20 November 2012

Sarcolemmal repair is a slow process and includes EHD2.
Marg, A., Schoewel, V., Timmel, T., Schulze, A., Shah, C., Daumke, O. and Spuler, S.
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., 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., Mouly, V., Spuler, S. 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., Schneider, J., Luther-Schroeder, A., Kleber, C., Faust, K., Wiesener, S., Spies, C.D., Spranger, J., Spuler, S., Fielitz, J. and Weber-Carstens, S.
Critical Care Medicine 40 (2): 647-650. February 2012

2011

Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
Zacharias, U., Purfürst, B., Schoewel, V., Morano, I., Spuler, S. 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., 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. 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., 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., 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., 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., Fielitz, J. and Spranger, J.
PLoS ONE 6 (1): e16674. 31 January 2011

2010

Camptocormia and myopathy.
Deuschl, G., Margraf, N., Spuler, S., Kupsch, A. and Schulz-Schaeffer, W.J.
Movement Disorders 25 (15): 2689-2690. 15 November 2010

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., 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. and Keh, D.
Critical Care 14 (3): R119. 18 June 2010

Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach.
Spuler, S., 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

Another side to statin-related side effects.
Knoblauch, H., Schoewel, V., Kress, W., Rosada, A. and Spuler, S.
Annals of Internal Medicine 152 (7): 478-479. 6 April 2010

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
Boschmann, M., Engeli, S., Moro, C., Luedtke, A., Adams, F., Gorzelniak, K., Rahn, G., Mähler, A., Dobberstein, K., Krueger, A., Schmidt, S., Spuler, S., Luft, F.C., Smith, S.R., Schmidt, H.H. and Jordan, J.
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., Varon, R., Barresi, R., Schulze, A., Lucke, B., Luetzkendorf, S., Karbasiyan, M., Bachmann, S., Spuler, S. and Schuelke, M.
PLoS Genetics 6 (3): e1000874. 12 March 2010

Cardiac involvement in sporadic inclusion-body myositis.
Utz, W., Schmidt, S., Schulz-Menger, J., Luft, F. and Spuler, S.
Circulation 121 (5): 706-708. 9 February 2010

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch, H., Geier, C., Adams, S., Budde, B., Rudolph, A., Zacharias, U., Schulz-Menger, J., Spuler, A., Yaou, R.B., Nuernberg, P., Voit, T., Bonne, G. and Spuler, S.
Annals of Neurology 67 (1): 136-140. January 2010

2009

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., 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., 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. and Spranger, J.
Diabetes 58 (7): 1532-1538. July 2009

Amyloidose bei Muskeldystrophie [Amyloidosis in muscular dystrophy].
Carl, M., Roecken, C. and Spuler, S.
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.
Radiology 250 (1): 87-94. January 2009

2008

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier, C., Gehmlich, K., Ehler, E., Hassfeld, S., Perrot, A., 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., 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., Carl, M., Zabojszcza, J., Straub, V., Bushby, K., Moore, S.A., Bähring, S., 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.
Muscle & nerv 37 (1): 120-124. January 2008

2007

Dysfunction of dysferlin-deficient hearts.
Wenzel, K., Geier, C., Qadri, F., Huebner, N., Schulz, H., Erdmann, B., Gross, V., Bauer, D., Dechend, R., Dietz, R., Osterziel, K.J., Spuler, S. 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., 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., Kalbhenn, T., Zabojszcza, J., 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.
Neuromuscular Disorders 17 (2): 157-162. February 2007

2006

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., Willig, F. and Schmidt, H.H.
Medizinische Klinik 101 (10): 825-829. 15 October 2006

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., Willig, F. and Schmidt, H.H.
Deutsche Medizinische Wochenschrift 131 (27 Suppl 2): S45-S66. 7 July 2006

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
Wenzel, K., Carl, M., Perrot, A., Zabojszcza, J., Assadi, M., Ebeling, M., Geier, C., Robinson, P.N., Kress, W., Osterziel, K.J. and Spuler, S.
Human Mutation 27 : 599-600. June 2006

2005

Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy.
Wenzel, K., Zabojszcza, J., Carl, M., Taubert, S., Lass, A., Harris, C.L., Ho, M., Schulz, H., Hummel, O., Hubner, N., Osterziel, K.J. and Spuler, S.
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., Worman, H.J. and Schmidt, H.H.
Diabetic Medicine 22 (11): 1611-1613. November 2005

A new LMNA mutation causing limb girdle muscular dystrophy 1B.
Spuler, S., Geier, C., 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

Kardiale Manifestationen bei Muskeldystrophien [Cardiac manifestations of muscular dystrophies].
Perrot, A., Spuler, S., Geier, C., Dietz, R. and Osterziel, K.J.
Zeitschrift fuer Kardiologie 94 : 312-320. 1 January 2005

2004

Differenzialdiagnostik eines kongenitalen myasthenen Syndroms [Differential congenital myasthenia syndrome diagnosis].
Spuler, S., Lehmann, T.N. and Engel, A.G.
Nervenarzt 75 (2): 141-144. February 2004

1999

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.
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.
Nervenarzt 70 (10): 924-926. October 1999

1998

Amyloid myopathy: an underdiagnosed entity.
Spuler, S., 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. and Engel, A.G.
Neurology 50 (1): 41-46. 1 January 1998

1997

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., Tzartos, S. and Dornmair, K.
Journal of Neuroimmunology 80 (1-2): 131-136. December 1997

SMI-31 immunoreactivity in inclusion body myositis.
Spuler, S. 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., Scheller, A., Mai, N., Hohlfeld, R. and Yousry, T.
Journal of Neurology Neurosurgery and Psychiatry 62 (2): 200-201. February 1997

1996

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., 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., 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., 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., Bressi, S., Scotti, G. and Comi, G.
Neurology 46 (2): 379-384. February 1996

1995

The role of autoimmune T lymphocytes in the pathogenesis of multiple sclerosis.
Hohlfeld, R., Meinl, E., Weber, F., Zipp, F., Schmidt, S., Sotgiu, S., Goebels, N., Voltz, R., Spuler, S. and Iglesias, A.
Neurology 45 (6 Suppl 6): S33-S38. June 1995

1994

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., Marx, A., Kirchner, T., Hohlfeld, R. and Wekerle, H.
American Journal of Pathology 145 (4): 766-770. October 1994

Aktuelle Therapie der multiplen Sklerose: Mitoxantron [Current therapy of multiple sclerosis: mitoxantrone].
Spuler, S. and Hohlfeld, R.
Nervenarzt 65 (2): 136-138. February 1994

1993

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., 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., Padberg, F., Marx, A., Hohlfeld, R. and Wekerle, H.
Annals of the New York Academy of Sciences 681 : 66-73. 21 June 1993

1992

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