Wissenschaftliche Publikationen seit Gründung des Heimer-Instituts sowie mit Förderung durch die Heimer-Stiftung

Liste der Publikationen öffnen

  • 32) van den Bogaart FJ, Claeys KG, Kley RA, Kusters B, Schrading S, Kamsteeg EJ, Voermans NC. Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC. Neuromuscul Disord. 2017 27:73-77.
  • 31) Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H. The novel αB-Crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. Hum Mutat 2017 In press.
  • 30) Diermeier S, Iberl J, Vetter K, Haug M, Pollmann C, Reischl B, Buttgereit A, Schürmann S, Spörrer M, Goldmann WH, Fabry B, Elhamine F, Stehle R, Pfitzer G, Winter L, Clemen CS, Herrmann H, Schröder R, Friedrich O. Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice. Sci Rep 2017 7:1391.
  • 29) Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA. Proteomics of rimmed vacuoles define risk allele in inclusion body myositis. Ann Neurol 2017 81:227-239.
  • 28) Pieczora L, Stracke L, Vorgerd M, Hahn S, Theiss C, Theis V. Unveiling of miRNA Expression Patterns in Purkinje Cells During Development. Cerebellum 2017 16:376-387.
  • 27) Schlaffke L, Rehmann R, Froeling M, Kley R, Tegenthoff M, Vorgerd M, Schmidt-Wilcke T. Diffusion tensor imaging of the human calf – Variation of inter- and intramuscle specific diffusion. J Magn Reson Imaging. 2017 In press.
  • 26) Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, Müller K, Weishaupt JH, Thiel CT, Clemen CS. Genetic analysis of VCP and WASH-complex genes in a German cohort of sporadic ALS-FTD patients. Neurobiol Aging 2017 In press.
  • 25) Evangelista T, Weihl CC, Kimonis V, Lochmüller H. VCP related diseases Consortium. 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands. Neuromuscul Disord 2016 26:535-547.
  • 24) Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lücke T, Schneider-Gold C, Köhler C, Güttsches AK, Kortum X, Klawonn F. Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial. BMC Med Inform Decis Mak 2016 16:31.
  • 23) Kley RA, Olivé M, Schröder R. New aspects of myofibrillar myopathies. Curr Opin Neurol 2016 29:628-634.
  • 22) Klionsky DJ, et al., Kley RA, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016 12:1-222.
  • 21) Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PFM, Fürst DO, Vorgerd M, Marcus K, Kley RA. New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. Acta Neuropathol Commun 2016 4:8.
  • 20) Unger A, Dekomien G, Güttsches A, Dreps T, Kley RA, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke W, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. Neurology 2016 87:2235-2243.
  • 19) Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley RA, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz WS, Schröder R, Clemen CS. Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. Acta Neuropathol 2016 132:453-473.
  • 18) Chevessier F, Schuld J, Orfanos Z, Plank AC, Wolf L, Maerkens A, Unger A, Schlötzer-Schrehardt U, Kley RA, Von Hörsten S, Marcus K, Linke WA, Vorgerd M, van der Ven PF, Fürst DO, Schröder R. Myofibrillar instability exacerbated by acute exercise in filaminopathy. Hum Mol Genet 2015 24:7207-7220.
  • 17) Gruhn KM, Heyer CM, Güttsches AK, Rehmann R, Nicolas V, Schmidt-Wilcke T, Tegenthoff M, Vorgerd M, Kley RA. Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy. Mol Genet Metab Rep 2015 3:58-64.
  • 16) Güttsches AK, Balakrishnan-Renuka A, Kley RA, Tegenthoff M, Brand-Saberi B, Vorgerd M. ATOH8: a novel marker in human muscle fiber regeneration. Histochem Cell Biol. 2015 143:443-452.
  • 15) Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M. Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscul Disord 2015 25:392-396.
  • 14) Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. Neuromuscul Disord 2015 25:719-724.
  • 13) Preusse C, Goebel HH, Pehl D, Rinnenthal JL, Kley RA, Allenbach Y, Heppner FL, Vorgerd M, Authier FJ, Gherardi R, Stenzel W. Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis. Neuropathol Appl Neurobiol 2015 41:952-963.
  • 12) Tasca G, Monforte M, De Fino C, Kley RA, Ricci E, Mirabella M. MRI pattern recognition in sporadic Inclusion Body Myositis. Muscle Nerve 2015 52:956-962.
  • 11) Walter MC, Rossius M, Zitzelsberger M, Vorgerd M, Müller-Felber W, Ertl-Wagner B, Zhang Y, Brinkmeier H, Senderek J, Schoser B. 50years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. Neuromuscul Disord 2015 25:577-584.
  • 10) Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M and Hanisch F. Mitochondrial abnormalities in myofibrillar myopathies. Clin Neuropathol 2014 33:134-142.
  • 09) Karabul N, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F. Pregnancy and delivery in women with Pompe disease. Mol Genet Metab 2014 11:148-153.
  • 08) Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F. Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey. JIMD Rep 2014 17:53-61.
  • 07) Merlini L1, Nishino I2; Consortium for Autophagy in Muscular Dystrophies. 201st ENMC International Workshop: Autophagy in muscular dystrophies--translational approach, 1-3 November 2013, Bussum, The Netherlands. Neuromuscul Disord 2014 24:546-561.
  • 06) Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet J Rare Dis 2014 9:121.
  • 05) Kley RA, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven PFM, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Müller K, Meyer HE, Tegenthoff M, Fürst DO, Vorgerd M, Müller T, Marcus K. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics 2013 12:215-227.
  • 04) Kley RA, van der Ven PF, Olivé M, Höhfeld J, Goldfarb LG, Fürst DO, Vorgerd M. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. Autophagy 2013 9:422-423.
  • 03) Maerkens A*, Kley RA*, Olivé M, Theis V, van der Ven PFM, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. J Proteomics 2013 90:14-27. *Shared first authorship.
  • 02) Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinovic-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain 2012 135:2642-2660.
  • 01) Kley RA, Hellenbroich Y, van der Ven PFM, Fürst DO, Hübner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherrr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain. 2007 130:3250-3264.

Liste der Publikationen schließen



Wissenschaftliche Publikationen Prof. Dr. M. Vorgerd

Wissenschaftliche Publikationen Prof. Dr. C. S. Clemen

Wissenschaftliche Publikationen Prof. Dr. R. Kley

Wissenschaftliche Publikationen Dr. A. Güttsches