Publikationen

2012

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
 
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; 11:91 – Epub ahead of print

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 and Nerve, 2007 Jun 22; Epub ahead of print

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. Human Mutation 2006; 27: 599 online

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