Wissenschaftliche Publikationen des Heimer Instituts in 2016

  • Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis. 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. Ann Neurol. 2016 Dec 23 [Epub ahead of print]
  • Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M. Neurology. 2016 Nov 22;87(21):2235-2243.
  • Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report. Sturm D, Schmidt-Wilcke T, Greiner T, Maier C, Schargus M, Tegenthoff M, Vorgerd M. Case Rep Neurol. 2016 Jun 27;8(2):134-9.
  • Unveiling of miRNA Expression Patterns in Purkinje Cells During Development. Pieczora L, Stracke L, Vorgerd M, Hahn S, Theiss C, Theis V. Cerebellum. 2016 Jul 7. [Epub ahead of print]
  • New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 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 PF, Fürst DO, Vorgerd M, Marcus K, Kley RA. Acta Neuropathol Commun. 2016 Feb 3;4:8
  • Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC. van den Bogaart FJ, Claeys KG, Kley RA, Kusters B, Schrading S, Kamsteeg EJ, Voermans NC. Neuromuscul Disord. 2017 Jan;27(1):73-77.
  • Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. 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. Acta Neuropathol. 2016 Sep;132(3):453-73.
  • New aspects of myofibrillar myopathies. Kley RA, Olivé M, Schröder R. Curr Opin Neurol. 2016 Oct;29(5):628-34.
  • 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.Evangelista T, Weihl CC, Kimonis V, Lochmüller H; VCP related diseases Consortium. Neuromuscul Disord. 2016 Aug;26(8):535-47.

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