Publications

2016

Ziat E, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT. FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. J Neuromuscul Dis. DOI: 10.3233/JND-160169.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, 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 CT, Walter MC, Bushby K; Jain COS Consortium. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug

Bhattarai S, Ghannam K, Krause S, Benveniste O, Marg A, de Bruin G, Xin BT, Overkleeft HS, Spuler S, Stenzel W, Feist E. The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies. J Autoimmun. 2016 Dec;75:118-129. doi: 10.1016/j.jaut.2016.08.004. Epub 2016 Aug 10.

Schmacht L, Traber J, Grieben U, Utz W, Dieringer MA, Kellman P, Blaszczyk E, von Knobelsdorff-Brenkenhoff F, Spuler S, Schulz-Menger J.Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction: Detection by Cardiovascular Magnetic Resonance. Circ Cardiovasc Imaging. 2016 Jul;9(7). doi: 10.1161/CIRCIMAGING.115.004615.

Moshourab R, Palada V, Grunwald S, Grieben U, Lewin G, Spuler S. A Molecular signature of myalgia in myotonic dystrophy 2, EBioMedicine. 2016, doi: 10.1016/j.ebiom.2016.03.017

Escobar H, Schöwel V, Spuler S, Marg A, Izsvák Z. Full-length dysferlin transfer by the hyperactive Sleeping Beauty Transposase restores dysferlin-deficient muscle. Mol Ther Nucleic Acids. 2016 Jan 19;5:e277.

2015

Philippi S, Lorain S, Beley C, Peccate C, Précigout G, Spuler S, Garcia L. Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites. Hum Mol Genet. 2015 Jul 15;24(14):4049-60.

Timmel T, Kunz S, Seifert F, Schuelke M, Spuler S. Cavin 1 function does not follow caveolar morphology. Am J Physiol Cell Physiol. 2015 Jun 15;308(12):C1023-30.

Horbelt D, Boergermann JH, Chaikuad A, Alfano I, Williams E, Lukonin I, Timmel T, Bullock AN, Knaus P. Small molecules dorsomorphin and LDN-193189 inhibit myostatin/GDF8 signaling and promote functional myoblast differentiation. J Biol Chem. 2015 Feb 6;290(6):3390-404.

2014

Marg A, Escobar H, Gloy S, Kufeld M, Zacher J, Spuler A, Birchmeier C, Izsvák Z, Spuler S. Human satellite cells have regenerative capacity and are genetically manipulable. J Clin Invest. 2014 Oct 1;124(10):4257-65. 


Koch S, Wollersheim T, Bierbrauer J, Haas K, Mörgeli R, Deja M, Spies CD, Spuler S, Krebs M, Weber-Carstens S. Long term Recovery in Critical Illness Myopathy is complete, contrary to Polyneuropathy. Muscle Nerve. 2014 Sep;50(3):431-6.

Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T. Lipid accumulation in dysferlin-deficient muscles. Am J Pathol. 2014 Jun;184(6):1668-76.

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, Fielitz J. Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness. Intensive Care Med. 2014 Apr;40(4):528-38.

Timmel T, Schuelke M, Spuler S. Identifying Dynamic Membrane Structures with Atomic-Force Microscopy and Confocal Imaging. Microscopy and Microanalysis. 2014 Apr;20(2):514-20.

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, Fielitz J. Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy. PLoS One. 2014 Mar 20;9(3):e92048.

2013

Pakula A, Schneider J, Janke J, Zacharias U, Schulz H, Hübner N, Mähler A, Spuler A, Spuler S, Carlier P, Boschmann M. Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1). PLoS One. 2013 Sep 3;8(9):e73573.

Raith M, Valencia RG, Fischer I, Orthofer M, Penninger JM, Spuler S, Rezniczek GA, Wiche G. Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by estabilizing microtubule networks in mdx myofibers. Skelet Muscle. 2013 Jun 12;3(1):14.

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 CD, Luft FC, Boschmann M, Spranger J, Spuler S. Critical illness myopathy and GLUT4 – significance of insulin and muscle contraction. Am J Resp Crit Care Med. 2013 Feb 15;187(4):387-96.

2012

Schoewel V, Marg A, Kunz S, Overkamp T, Siegert Carrazedo R, Zacharias U, Daniel PT, Spuler S. Dysferlin-Peptides Reallocate Mutated Dysferlin Thereby Restoring Function. PloS one. 2012;7(11):e49603.

Marg A, Schoewel V, Timmel T, Schulze A, Shah C, Daumke O, Spuler S. Sarcolemmal repair is a slow process and includes EHD2.Traffic. 2012 Sep;13(9):1286-94.

Philippi S, Bigot A, Marg A, Mouly V, Spuler S, Zacharias U. Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. PLoS Curr. 2012; 4: RRN1298.

Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012 Mar;35(2):253-61.

2011

Zacharias U., Purfürst B., Schöwel V., Morano I., Spuler S., and Haase H.: Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. J Muscle Res Cell Motil. 2011; 32(4-5): 271-80

Koch S, Spuler S, Deja M, Weber-Carstens S. Critical illness myopathy is frequent – accompanying neuropathy protracts ICU discharge. J Neurol Neurosurg Psych, 2011; 82: 287-293.

Biedasek K, Andres J, Mai K, Adams S, Spuler S, Fielitz J, Spranger J. Skeletal muscle 11beta-HSD1 controls glucocorticoid-induced proteolysis and expression of E3 ubiquitin ligases atrogin-1 and MuRF-1. Plos One 2011; 6: e16674.

Spuler S, Stroux A, Kuschel F, Kuhlmey A, Kendel F. Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician. BMC Health Serv Res. 2011 May 4;11:91. doi: 10.1186/1472-6963-11-91.

2010

Spuler S, Krug H, Klein C, Chaure-Medialdea I, Jakob W, Ebersbach G, Gruber D, Hoffmann K-T, Trottenberg T, Kupsch A. Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach. Movement Dis, 2010, 15; 25:552-9.

Boschmann M, Engeli S, Moro C, Luedtke A, Adams F, Gorzelniak K, Rahn G, Mähler A, Dobberstein K, Krüger A, Schmidt S, Spuler S, Luft FC, Smith SR, Schmidt HHJ, Jordan J. LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. J Clin Endocrinol Metabol. 2010; 95:1634-43.

Utz W, Schmidt S, Schulz-Menger J, Luft FC, Spuler S. Cardiac involvement in sporadic inclusion body myositis. Circulation, 2010;121:706-8.

Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Schulz-Menger J, Spuler A, Ben Yaou R, Nürnberg, P, Voit T, Bonne G, Spuler S. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann Neurol, 2010; 67:136–140.

Rajab A, Straub V, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Mohsen K, McCann LJ, Spuler S, Schuelke M. PTRF-CAVIN mutations cause generalized caveolopathy with lipodystrophy, rippling muscle disease, and complex cardiac arrhythmias. PLoS Genetics, 2010, 6:e1000874.

Knoblauch H*, Schöwel V*, Kress W, Kassner U, Spuler S. Another side to statin related side effects. Ann Int Med, 2010; 152:478-479. *contributed equally

Weber-Carstens S, Deja M, Koch S, Spranger J, Bubser F, Wernecke KD, Spies CD, Spuler S, Keh D. Risk factors in critical illness myopathy during the early course of critical illness: a prospective observational study. Crit Care, 2010, 14: R119.

de Greef JC, Lemmers R, Camano P, Day JW, Sacconi S, Dunand M, van Engelen BGM, Sari Kiuru-Enari, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R. Clinical features of FacioScapuloHumeral Dystrophy 2. Neurology 2010, 75: 1548-1554.

Deuschl G, Margraf N, Spuler S, Kupsch A, Schulz-Schaeffer WJ. Camptocormia and myopathy.
Mov Disord. 2010; 25: 2689-2690.

2009

Schmidt S, Vieweger A, Obst M, Gross V, Mueller S, Steinbrink J, Gutberlet M, Misselwitz B, Luedemann L, Spuler S. Gadofluorine M enhanced MR imaging enables differentiation of diseased from non diseased muscle in a model of dysferlin-deficient muscular dystrophy in mice. Radiology, 2009, 250: 87-94.

Carl M, Röcken C, Spuler S. Amyloidose bei Muskeldystrophien. Pathologe, 2009, 30:235-239.

Mai K, Andres J, Biedasek K, Weicht J, Bobbert T, Sabath M, Meinus S, Reinecke F, Möhlig M, Weickert MO, Clemenz M, Pfeiffer AF, Kintscher U, Spuler S, Spranger J. Free fatty acids link metabolism and regulation of the insulin-sensitizing fibroblast growth factor-21. Diabetes. 2009,58:1532-1538.

Weber-Carstens S, Koch S, Spuler S, Spies CD, Bubser F, Wernecke KD, Deja M. Nonexcitable muscle membrane predicts intensive care unit-acquired paresis in mechanically ventilated, sedated patients. Crit Care Med, 2009, 37: 2632-2637.

Gueneau L, Bertrand AT, Jais J-P, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Mutations of FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Gen, 2009, 85: 338-353.

2008

Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C. Dysferlin deficient muscular dystrophy features amyloidosis. Ann Neurol, 2008, 63: 323-328.

Geier C, Gehmlich K, Ehler E, Hassfeld E, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch M, Bublak A, Nägele H, Scheffold T, Chien KR, Dietz R, Osterziel KJ, Spuler S, Fuerst DO, Nürnberg P, Özcelik C. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Gen. 2008, 17: 2753-2765.

2007

Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscular Disorders, 2007; 17: 157-162.

Spuler S; Kalbhenn T; Zabojszcza J; van Landeghem FKH; Ludtke A; Wenzel K; Koehnlein M; Schuelke M; Lüdemann L; Schmidt HH. Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. Neurology, 2007; 68: 677-683.

Ludtke A., Buettner J, Wu W, Muchir A, Schroeter A, Zinn-Justin S, Spuler S, Schmidt HH, Worman HJ. Peroxisome proliferator-activated receptor gamma C190S mutation causes partial lipodystrophy. J Clin Endocrinol Metab. 2007;92:2248-2255.

Meyer T, Huebner A, Linke P, Jurkatt-Rott K, Lehmann-Horn F, van Landeghem F, Dullinger JS, Spuler, S. Progressive muscle atrophy in conjunction with hypokalemic periodic paralysis associated with the calcium channel CACNA1S. Muscle Nerve. 2008 Jan;37(1):120-4.

Wenzel K, Geier C, Qadri F, Hubner N, Schulz H, Erdmann B, Gross V, Bauer D, Dechend R, Dietz R, Osterziel KJ, Spuler S*, Ozcelik C* (contributed equally) Dysfunction of dysferlin-deficient hearts. J Mol Med, 2007, 85:1203-1214.

2006

Wenzel K; Carl M; Perrot A; Zabojszcza J; Assadi M; Ebeling M; Robinson PN; Kress; W; Osterziel K-J; Spuler S. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum Mutat. 2006 Jun;27(6):599-600.

Rocken C; Ernst J; Hund E; Michels H; Perz J; Saeger W; Sezer O; Spuler S; Willig F; Schmidt HH. Interdisciplinary guidelines on diagnosis and treatment for extracerebral amyloidoses. Med. Klinik. 2006; 101: 825-829.

2005

Ludtke A; Heck K; Genschel J; Mehnert H; Spuler S; Worman HJ, Schmidt HH. Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. Diabet Med. 2005; 22:1611-3.

Spuler S; Geier C; Osterziel KJ; Gutberlet M; Genschel J; Lehmann TN; Zinn-Justin S; Schmidt H. A new LMNA mutation causing limb girdle muscular dystrophy 1b. J. Neurology 2005; 252: 621-623.

Wenzel K; Zabojszcza J; Carl M. Taubert S; Lass A; Harris CL; Ho M; Schulz H; Hummel O; Hubner N; Osterziel KJ; Spuler S. Increased susceptibility to complement attack due to downregulation of decay accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. J. Immunology, 2005; 175:6219-6225.

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