Browse by Research Team

2023

Development and systematic evaluation of decellularization protocols in different application models for diaphragmatic tissue engineering.
Andreas, M.N. and Boehm, A.K. and Tang, P. and Moosburner, S. and Klein, O. and Daneshgar, A. and Gaßner, J.M.G.V. and Raschzok, N. and Haderer, L. and Wulsten, D. and Rückert, J.C. and Spuler, S. and Pratschke, J. and 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. and Pagano, E. and Paris, D. and Panza, E. and Cuozzo, M. and Moriello, C. and Piscitelli, F. and Abolghasemi, A. and Gazzerro, E. and Silvestri, C. and Capasso, R. and Motta, A. and Russo, R. and 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. and Amara, A. and Sanson, B. and Lacatus, O. and Amir Belhouchet, A. and Kroneman, M. and Claeys, K. and Plançon, J.P. and Rodolico, C. and Primiano, G. and Trojsi, F. and Filosto, M. and Mongini, T.E. and Bortolani, S. and Monforte, M. and Carraro, E. and Maggi, L. and Ricci, F. and Silani, V. and Orsucci, D. and Créange, A. and Péréon, Y. and Stojkovic, T. and van der Beek, N.A.M.E. and Toscano, A. and Pareyson, D. and Attarian, S. and Van den Bergh, P.Y.K. and Remiche, G. and Hoeijmakers, J.G.J. and Badrising, U. and Voermans, N.C. and Kaindl, A.M. and Schara-Schmidt, U. and Schoser, B. and Gazzerro, E. and Haberlová, Ja. and Voháňka, S. and Pál, E. and Molnar, M. J. and Leonardis, L. and Tournev, I.L. and Osorio, A.N. and Olivé, M. and Muelas, N. and Alonso-Perez, J. and de Visser, M. and 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. and Baratto, S. and Astigiano, C. and Sturla, L. and Panicucci, C. and Mamchaoui, K. and Raffaghello, L. and Bruzzone, S. and 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. and Marg, A. and Ignak, B. and Kieshauer, J. and Escobar, H. and 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. and Sundaravinayagam, D. and Blume, A. and Marg, A. and Grunwald, S. and Metzler, E. and Escobar, H. and Müthel, S. and Wang, H. and Wollersheim, T. and Weber-Carstens, S. and Akalin, A. and Di Virgilio, M. and 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 and Müller, Christina and Maron, Elke and Thielen, Markus and Schätzl, Teresa and Mähler, A. and Schütte, T. and Boschmann, M. and Herzer, René and 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. and Tonlorenzi, R. and Brunelli, S. and Sampaolesi, M. and Messina, G. and Azzoni, E. and Benedetti, S. and Biressi, S. and Bonfanti, C. and Bragg, L. and Camps, J. and Cappellari, O. and Cassano, M. and Ciceri, F. and Coletta, M. and Covarello, D. and Crippa, S. and Cusella-De Angelis, M.G. and De Angelis, L. and Dellavalle, A. and Diaz-Manera, J. and Galli, D. and Galli, F. and Gargioli, C. and Gerli, M.F.M. and Giacomazzi, G. and Galvez, B.G. and Hoshiya, H. and Guttinger, M. and Innocenzi, A. and Minasi, M.G. and Perani, L. and Previtali, S.C. and Quattrocelli, M. and Ragazzi, M. and Roostalu, U. and Rossi, G. and Scardigli, R. and Sirabella, D. and Tedesco, F.S. and 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. and Gollasch, B. and Kuich, P.H.J.L. and Klug, L. and Rahn, G. and Busjahn, A. and Spuler, S. and Boschmann, M. and Kirwan, J.A. and 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. and Krause, A. and Escobar, H. and Müthel, S. and 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. and Schöwel-Wolf, V. and Kieshauer, J. and Marg, A. and Busjahn, A. and Davis, S. and Nugent, G. and 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. and Hillebrandt, K.H. and Dziodzio, T. and Krenzien, F. and Neudecker, J. and Spuler, S. and Pratschke, J. and 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. and Pusch, F. and Bei, Y. and von Stebut, J. and Ibáñez, G. and Guillan, K. and Imami, K. and Gürgen, D. and Rolff, J. and Helmsauer, K. and Meyer-Liesener, S. and Timme, N. and Bardinet, V. and Chamorro González, R. and MacArthur, I.C. and Chen, C.Y. and Schulz, J. and Wengner, A.M. and Furth, C. and Lala, B. and Eggert, A. and Seifert, G. and Hundsoerfer, P. and Kirchner, M. and Mertins, P. and Selbach, M. and Lissat, A. and Dubois, F. and Horst, D. and Schulte, J.H. and Spuler, S. and You, D. and Dela Cruz, F. and Kung, A.L. and Haase, K. and Di Virgilio, M. and Scheer, M. and 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. and Di Francescantonio, S. and Marg, A. and Müthel, S. and 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. and Escobar, H. and Sunaga-Franze, D.Y. and Sauer, S. and 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. and West, D. and Senden, J. and Spuler, S. and 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. and Fernandez-Torron, R. and Jacobs, M. and Gordish, H. and Diaz-Manera, J. and James, M.K. and Mayhew, A.G. and Harris, E. and Guglieri, M. and Rufibach, L.E. and Feng, J. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Pegoraro, E. and Lowes, L.P. and Mendell, J.R. and Bushby, K. and 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. and James, M.K. and Moore, U. and Sutherland, H. and Jacobs, M. and Feng, J. and Lowes, L.P. and Alfano, L.N. and Muni Lofra, R. and Rufibach, L.E. and Rose, K. and Duong, T. and Bello, L. and Pedrosa-Hernández, I. and Holsten, S. and Sakamoto, C. and Canal, A. and Sánchez-Aguilera Práxedes, N. and Thiele, S. and Siener, C. and Vandevelde, B. and DeWolf, B. and Maron, E. and Gordish-Dressman, H. and Hilsden, H. and Guglieri, M. and Hogrel, J.Y. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Díaz-Manera, J. and Pegoraro, E. and 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. and Haafke, S. and Grieben, U. and Kassner, U. and 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. and Tominaga, N. and Williams, E.O. and Rufibach, L. and Schöwel, V. and Spuler, S. and 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. and Principi, E. and Baratto, S. and Panicucci, C. and Pintus, S. and Antonini, F. and Del Zotto, G. and Benzi, A. and Bruzzone, S. and Scudieri, P. and Minetti, C. and Gazzerro, E. and Bruno, C.
Pharmaceuticals 15 (1): 89. 13 January 2022

2021

Challenges in cell transplantation for muscular dystrophy.
Galli, F. and Mouly, V. and 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. and Lim, C. and Kellman, P. and Schmacht, L. and Gröschel, J. and 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. and Koch, K. and Schriever, C. and Xu, J. and Steinecker, M. and Leber, J. and Dworatzek, E. and Purfürst, B. and Kunz, S. and Recchia, D. and Canepari, M. and Heuser, A. and Di Francescantonio, S. and Morano, I.
Journal of Cachexia Sarcopenia and Muscle 12 : 1249-1265. 14 October 2021

Diagnostik und Therapie von statinassoziierten Muskelsymptomen [Diagnostics and treatment of statin-associated muscle symptoms].
Kassner, U. and Grunwald, S. and Spira, D. and Buchmann, N. and Bobbert, T. and Gazzerro, E. and Hollstein, T. and 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. and Butler-Browne, G. and Chinoy, H. and Cossu, G. and Galli, F. and Lilleker, J.B. and Magli, A. and Mouly, V. and Perlingeiro, R.R. and Previtali, S.C. and Sampaolesi, M. and Smeets, H. and Schoewel-Wolf, V. and Spuler, S. and 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. and Krause, A. and Keiper, S. and Kieshauer, J. and Müthel, S. and García de Paredes, M. and Metzler, E. and Kühn, R. and 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. and James, M.K. and Lowes, L.P. and Alfano, L.N. and Eagle, M. and Lofra, R.M. and Moore, U. and Feng, J. and Rufibach, L.E. and Rose, K. and Duong, T. and Bello, L. and Pedrosa-Hernández, I. and Holsten, S. and Sakamoto, C. and Canal, A. and Práxedes, N.S.A. and Thiele, S. and Siener, C. and Vandevelde, B. and DeWolf, B. and Maron, E. and Guglieri, M. and Hogrel, J.Y. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Díaz-Manera, J. and Pegoraro, E. and Mendell, J.R. and 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. and Gordish, H. and Diaz-Manera, J. and James, M.K. and Mayhew, A.G. and Guglieri, M. and Torron, R.F. and Rufibach, L.E. and Feng, J. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Pegoraro, E. and Lowes, L.P. and Mendell, J.R. and 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. and Franke, V. and Brandt, B. and Lowenstein, E.D. and Schöwel, V. and Spuler, S. and 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. and Telugu, N. and Diecke, S. and 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. and Telugu, N. and Diecke, S. and 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. and Raffaghello, L. and Bruzzone, S. and Baratto, S. and Principi, E. and Minetti, C. and 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. and Ianni, A. and Künne, C. and Strilic, B. and Günther, S. and Perdiguero, E. and Krüger, M. and Spuler, S. and Offermanns, S. and Gómez-Del Arco, P. and Redondo, J.M. and Munoz-Canoves, P. and 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. and Michalopoulos, I. and Duguez, S. and Butler-Browne, G. and Spuler, S. and Duddy, W.J.
BMC Medical Genomics 13 (1): 67. 11 May 2020

Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells.
Kim, M. and Franke, V. and Brandt, B. and Spuler, S. and Akalin, A. and Birchmeier, C.
bioRxiv : 2020.04.14.041665. 15 April 2020

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.
Grunwald, S.A. and Popp, O. and Haafke, S. and Jedraszczak, N. and Grieben, U. and Saar, K. and Patone, G. and Kress, W. and Steinhagen-Thiessen, E. and Dittmar, G. and Spuler, S.
Scientific Reports 10 : 2158. 7 February 2020

Self-organizing 3D human trunk neuromuscular organoids.
Faustino Martins, J.M. and Fischer, C. and Urzi, A. and Vidal, R. and Kunz, S. and Ruffault, P.L. and Kabuss, L. and Hube, I. and Gazzerro, E. and Birchmeier, C. and Spuler, S. and 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. and Afzal, S. and 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. and Escobar Fernandez, H. and Karaiskos, N. and Grunwald, S.A. and Metzler, E. and Kieshauer, J. and Sauer, S. and Pasemann, D. and Malfatti, E. and Mompoint, D. and Quijano-Roy, S. and Boltengagen, A. and Schneider, J. and Schülke, M. and Kunz, S. and Carlier, R. and Birchmeier, C. and Amthor, H. and Spuler, A. and Kocks, C. and 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. and Grunow, J.J. and Carbon, N.M. and Haas, K. and Malleike, J. and Ramme, S.F. and Schneider, J. and Spies, C.D. and Märdian, S. and Mai, K. and Spuler, S. and 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. and Bröhl, D. and Zyrianova, T. and Isomura, A. and Czajkowski, M.T. and Kapoor, V. and Griger, J. and Ruffault, P.L. and Mademtzoglou, D. and Zammit, P.S. and Wunderlich, T. and Spuler, S. and Kühn, R. and Preibisch, S. and Wolf, J. and 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. and Grieben, U. and von Knobelsdorff-Brenkenhoff, F. and Kellman, P. and Schmacht, L. and Funk, S. and Spuler, S. and Schulz-Menger, J.
Journal of Cardiovascular Magnetic Resonance 21 (1): 25. 29 April 2019

The conserved histone chaperone LIN-53 links lifespan and healthspan regulation in C. elegans.
Müthel, S. and Uyar, B. and He, M. and Krause, A. and Vitrinel, B. and Bulut, S. and Vasiljevic, D. and Akalin, A. and Kempa, S. and Tursun, B.
bioRxiv : 539015. 2 February 2019

The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan-deficient muscular dystrophy.
Gazzerro, E. and Baratto, S. and Assereto, S. and Baldassari, S. and Panicucci, C. and Raffaghello, L. and Scudieri, P. and De Battista, D. and Fiorillo, C. and Volpi, S. and Chaabane, L. and Malnati, M. and Messina, G. and Bruzzone, S. and Traggiai, E. and Grassi, F. and 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. and Jacobs, M. and James, M.K. and Mayhew, A.G. and Fernandez-Torron, R. and Feng, J. and Cnaan, A. and Eagle, M. and Bettinson, K. and Rufibach, L.E. and Lofra, R.M. and Blamire, A.M. and Carlier, P.G. and Mittal, P. and Lowes, L.P. and Alfano, L. and Rose, K. and Duong, T. and Berry, K.M. and Montiel-Morillo, E. and Pedrosa-Hernández, I. and Holsten, S. and Sanjak, M. and Ashida, A. and Sakamoto, C. and Tateishi, T. and Yajima, H. and Canal, A. and Ollivier, G. and Decostre, V. and Mendez, J.B. and Sánchez-Aguilera Praxedes, N. and Thiele, S. and Siener, C. and Shierbecker, J. and Florence, J.M. and Vandevelde, B. and DeWolf, B. and Hutchence, M. and Gee, R. and Prügel, J. and Maron, E. and Hilsden, H. and Lochmüller, H. and Grieben, U. and Spuler, S. and Tesi Rocha, C. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Harms, M. and Pestronk, A. and Krause, S. and Schreiber-Katz, O. and Walter, M.C. and Paradas, C. and Hogrel, J.Y. and Stojkovic, T. and Takeda, S. and Mori-Yoshimura, M. and Bravver, E. and Sparks, S. and Díaz-Manera, J. and Bello, L. and Semplicini, C. and Pegoraro, E. and Mendell, J.R. and 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. and Heidt, L. and Goyenvalle, A. and Escobar, H. and Marg, A. and Beley, C. and Benchaouir, R. and Bader, M. and Spuler, S. and 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. and Jacobs, M. and Fernandez-Torron, R. and Jang, J. and James, M.K. and Mayhew, A. and Rufibach, L. and Mittal, P. and Eagle, M. and Cnaan, A. and Carlier, P.G. and Blamire, A. and Hilsden, H. and Lochmüller, H. and Grieben, U. and Spuler, S. and Tesi Rocha, C. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Harms, M. and Pestronk, A. and Krause, S. and Schreiber-Katz, O. and Walter, M.C. and Paradas, C. and Hogrel, J.Y. and Stojkovic, T. and Takeda, S. and Mori-Yoshimura, M. and Bravver, E. and Sparks, S. and Diaz-Manera, J. and Bello, L. and Semplicini, C. and Pegoraro, E. and Mendell, J.R. and 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. and Fernandez-Torron, R. and LLauger, J. and James, M.K. and Mayhew, A. and Smith, F.E. and Moore, U.R. and Blamire, A.M. and Carlier, P.G. and Rufibach, L. and Mittal, P. and Eagle, M. and Jacobs, M. and Hodgson, T. and Wallace, D. and Ward, L. and Smith, M. and Stramare, R. and Rampado, A. and Sato, N. and Tamaru, T. and Harwick, B. and Rico Gala, S. and Turk, S. and Coppenrath, E.M. and Foster, G. and Bendahan, D. and Le Fur, Y. and Fricke, S.T. and Otero, H. and Foster, S.L. and Peduto, A. and Sawyer, A.M. and Hilsden, H. and Lochmuller, H. and Grieben, U. and Spuler, S. and Tesi Rocha, C. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Harms, M. and Pestronk, A. and Krause, S. and Schreiber-Katz, O. and Walter, M.C. and Paradas, C. and Hogrel, J.Y. and Stojkovic, T. and Takeda, S. and Mori-Yoshimura, M. and Bravver, E. and Sparks, S. and Bello, L. and Semplicini, C. and Pegoraro, E. and Mendell, J.R. and 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. and Pagano, E. and Guardiola, O. and Adinolfi, S. and Saccone, V. and Consalvi, S. and Piscitelli, F. and Gazzerro, E. and Busetto, G. and Carrella, D. and Capasso, R. and Puri, P.L. and 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. and Senden, J.M.G. and Gijsen, A.P. and Kempa, S. and 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. and Kowalski, K. and Makul, M. and Ernstberger, P. and Radocaj, A. and Beck, J. and Becker, E. and Tripathi, S. and Keyser, B. and Mühlfeld, C. and Wissel, K. and Pich, A. and van der Velden, J. and Dos Remedios, C.G. and Perrot, A. and Francino, A. and Navarro-López, F. and 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. and Benzoni, P. and Landi, S. and Murano, C. and Langione, M. and Motta, B.M. and Baratto, S. and Silipigni, R. and Di Segni, M. and Pramstaller, P.P. and DiFrancesco, D. and Gazzerro, E. and 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. and Popp, O. and Haafke, S. and Jedraszczak, N. and Grieben, U. and Saar, K. and Patone, G. and Kress, W. and Steinhagen-Thiessen, E. and 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. and Schneider, R. and Lahmann, I. and Schöwel, V. and Keller, C. and Spuler, S. and 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. and Escobar, H. and Marg, A. and Pasemann, D. and Budach, V. and Spuler, S.
Annals of Translational Medicine 5 (7): 156. April 2017

2016

The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies.
Bhattarai, S. and Ghannam, K. and Krause, S. and Benveniste, O. and Marg, A. and de Bruin, G. and Xin, B.T. and Overkleeft, H.S. and Spuler, S. and 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. and Mamchaoui, K. and Beuvin, M. and Nelson, I. and Azibani, F. and Spuler, S. and 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. and Bladen, C.L. and Mayhew, A. and James, M. and Bettinson, K. and Moore, U. and Smith, F.E. and Rufibach, L. and Cnaan, A. and Bharucha-Goebel, D.X. and Blamire, A.M. and Bravver, E. and Carlier, P.G. and Day, J.W. and Díaz-Manera, J. and Eagle, M. and Grieben, U. and Harms, M. and Jones, K.J. and Lochmüller, H. and Mendell, J.R. and Mori-Yoshimura, M. and Paradas, C. and Pegoraro, E. and Pestronk, A. and Salort-Campana, E. and Schreiber-Katz, O. and Semplicini, C. and Spuler, S. and Stojkovic, T. and Straub, V. and Takeda, S. and Rocha, C.T. and 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. and Traber, J. and Grieben, U. and Utz, W. and Dieringer, M.A. and Kellman, P. and Blaszczyk, E. and von Knobelsdorff-Brenkenhoff, F. and 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. and Palada, V. and Grunwald, S. and Grieben, U. and 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. and Schöwel, V. and Spuler, S. and 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. and Lorain, S. and Beley, C. and Peccate, C. and Precigout, G. and 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. and Kunz, S. and Seifert, F. and 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. and Boergermann, J.H. and Chaikuad, A. and Alfano, I. and Williams, E. and Lukonin, I. and Timmel, T. and 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. and Escobar, H. and Gloy, S. and Kufeld, M. and Zacher, J. and Spuler, A. and Birchmeier, C. and 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. and Wollersheim, T. and Bierbrauer, J. and Haas, K. and Mörgeli, R. and Deja, M. and Spies, C.D. and Spuler, S. and Krebs, M. and Weber-Carstens, S.
Muscle & Nerve 50 (3): 431-436. September 2014

Lipid accumulation in dysferlin-deficient muscles.
Grounds, M.D. and Terrill, J. and Radley-Crabb, H. and Robertson, T. and Papadimitriou, J. and 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. and 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. and Weber-Carstens, S. and Schmidt, F. and Hamati, J. and Kny, M. and Zhu, X. and Wollersheim, T. and Koch, S. and Krebs, M. and Schulz, H. and Lodka, D. and Saar, K. and Labeit, S. and Spies, C. and Hubner, N. and Spranger, J. and Spuler, S. and Boschmann, M. and Dittmar, G. and Butler-Browne, G. and 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. and Woehlecke, J. and Krebs, M. and Hamati, J. and Lodka, D. and Luther-Schroeder, A. and Langhans, C. and Haas, K. and Radtke, T. and Kleber, C. and Spies, C. and Labeit, S. and Schuelke, M. and Spuler, S. and Spranger, J. and 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. and Schneider, J. and Janke, J. and Zacharias, U. and Schulz, H. and Hübner, N. and Mähler, A. and Spuler, A. and Spuler, S. and 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. and Valencia, R.G. and Fischer, I. and Orthofer, M. and Penninger, J.M. and Spuler, S. and 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. and Schneider, J. and Wollersheim, T. and Assmann, A. and Bierbrauer, J. and Marg, A. and Al Hasani, H. and Chadt, A. and Wenzel, K. and Koch, S. and Fielitz, J. and Kleber, C. and Faust, K. and Mai, K. and Spies, C.D. and Luft, F.C. and Boschmann, M. and 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. and Marg, A. and Kunz, S. and Overkamp, T. and Siegert Carrazedo, R. and Zacharias, U. and 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. and Schoewel, V. and Timmel, T. and Schulze, A. and Shah, C. and 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. and Berger, J.M. and Grieben, U. and 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. and Bigot, A. and Marg, A. and Mouly, V. and 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. and Koch, S. and Olbricht, C. and Hamati, J. and Lodka, D. and Schneider, J. and Luther-Schroeder, A. and Kleber, C. and Faust, K. and Wiesener, S. and Spies, C.D. and Spranger, J. and Spuler, S. and 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. and Purfürst, B. and Schoewel, V. and Morano, I. and 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. and Trollet, C. and Bigot, A. and Negroni, E. and Chaouch, S. and Wolff, A. and Kandalla, P.K. and Marie, S. and Di Santo, J. and St Guily, J.L. and Muntoni, F. and Kim, J. and Philippi, S. and Spuler, S. and Levy, N. and Blumen, S.C. and Voit, T. and Wright, W.E. and Aamiri, A. and 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. and 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. and Begitt, A. and Marg, A. and 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. and Stroux, A. and Kuschel, F. and 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. and Spuler, S. and Deja, M. and Bierbrauer, J. and Dimroth, A. and Behse, F. and Spies, C.D. and 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. and Andres, J. and Mai, K. and Adams, S. and Spuler, S. and Fielitz, J. and Spranger, J.
PLoS ONE 6 (1): e16674. 31 January 2011

2010

Camptocormia and myopathy.
Deuschl, G. and Margraf, N. and Spuler, S. and 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. and Lemmers, R.J. and Camano, P. and Day, J.W. and Sacconi, S. and Dunand, M. and van Engelen, B.G. and Kiuru-Enari, S. and Padberg, G.W. and Rosa, A.L. and Desnuelle, C. and Spuler, S. and Tarnopolsky, M. and Venance, S.L. and Frants, R.R. and 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. and Deja, M. and Koch, S. and Spranger, J. and Bubser, F. and Wernecke, K.D. and Spies, C.D. and 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. and Krug, H. and Klein, C. and Medialdea, I.C. and Jakob, W. and Ebersbach, G. and Gruber, D. and Hoffmann, K.T. and Trottenberg, T. and Kupsch, A.
Movement Disorders 25 (5): 552-559. 15 April 2010

Another side to statin-related side effects.
Knoblauch, H. and Schoewel, V. and Kress, W. and 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. and Engeli, S. and Moro, C. and Luedtke, A. and Adams, F. and Gorzelniak, K. and Rahn, G. and Mähler, A. and Dobberstein, K. and Krueger, A. and Schmidt, S. and Spuler, S. and Luft, F.C. and Smith, S.R. and 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. and Straub, V. and McCann, L.J. and Seelow, D. and Varon, R. and Barresi, R. and Schulze, A. and Lucke, B. and Luetzkendorf, S. and Karbasiyan, M. and Bachmann, S. and Spuler, S. and Schuelke, M.
PLoS Genetics 6 (3): e1000874. 12 March 2010

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

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch, H. and Geier, C. and Adams, S. and Budde, B. and Rudolph, A. and Zacharias, U. and Schulz-Menger, J. and Spuler, A. and Yaou, R.B. and Nuernberg, P. and Voit, T. and 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. and Bertrand, A.T. and Jais, J.P. and Salih, M.A. and Stojkovic, T. and Wehnert, M. and Hoeltzenbein, M. and Spuler, S. and Saitoh, S. and Verschueren, A. and Tranchant, C. and Beuvin, M. and Lacene, E. and Romero, N.B. and Heath, S. and Zelenika, D. and Voit, T. and Eymard, B. and 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. and Koch, S. and Spuler, S. and Spies, C.D. and Bubser, F. and 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. and Andres, J. and Biedasek, K. and Weicht, J. and Bobbert, T. and Sabath, M. and Meinus, S. and Reinecke, F. and Moehlig, M. and Weickert, M.O. and Clemenz, M. and Pfeiffer, A.F. and Kintscher, U. and Spuler, S. and Spranger, J.
Diabetes 58 (7): 1532-1538. July 2009

Amyloidose bei Muskeldystrophie [Amyloidosis in muscular dystrophy].
Carl, M. and 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. and Vieweger, A. and Obst, M. and Mueller, S. and Gross, V. and Gutberlet, M. and Steinbrink, J. and Taubert, S. and Misselwitz, B. and Luedemann, L. and Spuler, S.
Radiology 250 (1): 87-94. January 2009

2008

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier, C. and Gehmlich, K. and Ehler, E. and Hassfeld, S. and Perrot, A. and Hayess, K. and Cardim, N. and Wenzel, K. and Erdmann, B. and Krackhardt, F. and Posch, M.G. and Bublak, A. and Naegele, H. and Scheffold, T. and Dietz, R. and Chien, K.R. and Spuler, S. and Fuerst, D.O. and Nuernberg, P. and Oezcelik, C.
Human Molecular Genetics 17 (18): 2753-2765. 15 September 2008

Dysferlin-deficient muscular dystrophy features amyloidosis.
Spuler, S. and Carl, M. and Zabojszcza, J. and Straub, V. and Bushby, K. and Moore, S.A. and Bähring, S. and Wenzel, K. and 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. and Jurkat-Rott, K. and Huebner, A. and Lehmann-Horn, F. and Linke, P. and Van Landeghem, F. and Dullinger, J.S. and Spuler, S.
Muscle & nerv 37 (1): 120-124. January 2008

2007

Dysfunction of dysferlin-deficient hearts.
Wenzel, K. and Geier, C. and Qadri, F. and Huebner, N. and Schulz, H. and Erdmann, B. and Gross, V. and Bauer, D. and Dechend, R. and Dietz, R. and Osterziel, K.J. and 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. and Buettner, J. and Wu, W. and Muchir, A. and Schroeter, A. and Zinn-Justin, S. and Spuler, S. and 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. and Kalbhenn, T. and Zabojszcza, J. and van Landeghem, F.K. and Ludtke, A. and Wenzel, K. and Koehnlein, M. and Schuelke, M. and 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. and Carl, M. and Stoltenburg-Didinger, G. and 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. and Ernst, J. and Hund, E. and Michels, H. and Perz, J. and Saeger, W. and Sezer, O. and Spuler, S. and 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. and Ernst, J. and Hund, E. and Michels, H. and Perz, J. and Saeger, W. and Sezer, O. and Spuler, S. and 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. and Carl, M. and Perrot, A. and Zabojszcza, J. and Assadi, M. and Ebeling, M. and Geier, C. and Robinson, P.N. and Kress, W. and 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. and Zabojszcza, J. and Carl, M. and Taubert, S. and Lass, A. and Harris, C.L. and Ho, M. and Schulz, H. and Hummel, O. and Huebner, N. and 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. and Heck, K. and Genschel, J. and Mehnert, H. and Spuler, S. and 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. and Geier, C. and Osterziel, K.J. and Gutberlet, M. and Genschel, J. and Lehmann, T.N. and Zinn-Justin, S. and 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. and Spuler, S. and Geier, C. and 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. and 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. and Matsuda, M. and Fenk, R. and Patenge, N. and Kubuschok, B. and Hohlfeld, R. and 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. and Buettner, U. and Witt, T.N. and von Appen, K. and Spuler, S.
Nervenarzt 70 (10): 924-926. October 1999

1998

Amyloid myopathy: an underdiagnosed entity.
Spuler, S. and 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. and Kamm, C. and Padberg, F. and Malotka, J. and Kerschensteiner, M. and Spuler, S. and 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. and Hartmann, M. and Spuler, S. and Scheller, A. and Mai, N. and 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. and Yousry, T. and Baratti, C. and Horsfield, M.A. and Mammi, S. and Becker, C. and Voltz, R. and Spuler, S. and Campi, A. and 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. and Yousry, T. and Scheller, A. and Voltz, R. and Holler, E. and Hartmann, M. and 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. and Sarropoulos, A. and Marx, A. and 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. and Yousry, T. and Campi, A. and Kandziora, C. and Colombo, B. and Voltz, R. and Martinelli, V. and Spuler, S. and Bressi, S. and 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. and Meinl, E. and Weber, F. and Zipp, F. and Schmidt, S. and Sotgiu, S. and Goebels, N. and Voltz, R. and 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. and Marx, A. and Kirchner, T. and 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. and Weber, F. and Drexler, K. and Morelle, C. and Ott, M. and Saruhan-Direskeneli, G. and Goebels, N. and Ertl, B. and Jechart, G. and Giegerich, G. and Schoenbeck, S. and Bannwarth, W. and 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. and Padberg, F. and Marx, A. and 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. and Padberg, F. and Hohlfeld, R. and Wekerle, H.
Journal of Clinical Investigation 90 (1): 245-250. July 1992