Publikationen 2008

  • An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. (Am J Hum Genet. 2008 Jan;82(1):88-99.)
    Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.
  • Therapeutic approaches in glycogen storage disease type II/Pompe Disease. (Neurotherapeutics. 2008 Oct;5(4):569-78.)
    Schoser B, Hill V, Raben N.
  • Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. (Am J Med Genet A. 2008 Nov 15;146A(22):2911-5.)
    Schoser B, Gläser D, Müller-Höcker J.
  • High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. (J Neurol. 2008 Nov;255(11):1731-6. Epub 2008 Sep 24.)
    Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd B.
  • Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. (Mol Genet Metab. 2008 Sep-Oct;95(1-2):52-8. Epub 2008 Aug 8.)
    Schoser B, Bruno C, Schneider HC, Shin YS, Podskarbi T, Goldfarb L, Müller-Felber W, Müller-Höcker J.
  • Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (Brain. 2008 Mar;131(Pt 3):747-59. Epub 2008 Jan 7.)
    Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.
  • Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. (Exp Cell Res. 2008 Jul 1;314(11-12):2266-78. Epub 2008 May 10.)
    Salisbury E, Sakai K, Schoser B, Huichalaf C, Schneider-Gold C, Nguyen H, Wang GL, Albrecht JH, Timchenko LT.
  • Molecular biomarkers monitoring human skeletal muscle fibres and microvasculature following long-term bed rest with and without countermeasures. (J Anat. 2008 Mar;212(3):306-18. Epub 2008 Jan 21.)
    Salanova M, Schiffl G, Püttmann B, Schoser BG, Blottner D.
  • Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. (Neuromuscul Disord. 2008 Jun;18(6):475-82. Epub 2008 May 27.)
    Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R.
  • No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. (Eur J Neurol. 2008 May;15(5):525-9. Epub 2008 Mar 18.)
    Hjermind LE, Vissing J, Asmus F, Krag T, Lochmüller H, Walter MC, Erdal J, Blake DJ, Nielsen JE.
  • Unique PABPN1 gene mutation in a large Bulgarian family with OPMD. (J Neurol. 2008 Apr;255(4):609-11. Epub 2008 Feb 19.)
    Mihaylova V, Müller T, Petrova I, Tournev I, Cherninkova S, Walter MC, Deschauer M.
  • Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions. (Arthritis Rheum. 2008 Nov;58(11):3600-8.)
    Waschbisch A, Wintterle S, Lochmüller H, Walter MC, Wischhusen J, Kieseier BC, Wiendl H.
  • Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. (Eur Radiol. 2008 Dec;18(12):2922-36. Epub 2008 Jul 22)
    Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF.
  • Pleiotropic effects in Eya3 knockout mice. (BMC Dev Biol. 2008 Dec 22;8:118.)
    Söker T, Dalke C, Puk O, Floss T, Becker L, Bolle I, Favor J, Hans W, Hölter SM, Horsch M, Kallnik M, Kling E, Moerth C, Schrewe A, Stigloher C, Topp S, Gailus-Durner V, Naton B, Beckers J, Fuchs H, Ivandic B, Klopstock T, Schulz H, Wolf E, Wurst W, Bally-Cuif L, de Angelis MH, Graw J.
  • MitoP2: an integrative tool for the analysis of the mitochondrial proteome. (Mol Biotechnol. 2008 Nov;40(3):306-15. Epub 2008 Sep 9.)
    Elstner M, Andreoli C, Ahting U, Tetko I, Klopstock T, Meitinger T, Prokisch H.
  • Drug-induced myopathies. (Curr Opin Neurol. 2008 Oct;21(5):590-5.)
    Klopstock T.
  • The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA. (Neuromuscul Disord. 2008 Jul;18(7):553-6. Epub 2008 Jun 30.)
    Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
  • "Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour? (Front Biosci. 2008 May 1;13:5810-23.)
    Hoelter SM, Dalke C, Kallnik M, Becker L, Horsch M, Schrewe A, Favor J, Klopstock T, Beckers J, Ivandic B, Gailus-Durner V, Fuchs H, Hrabé de Angelis M, Graw J, Wurst W.
  • SPG10 is a rare cause of spastic paraplegia in European families. (J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. Epub 2008 Feb 1.)
    Schüle R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schöls L.
  • Phenotypic variability in siblings with calpainopathy (LGMD2A). (Acta Myol. 2008 Oct;27:54-8.)
    Schessl J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J.
  • Human myoblasts modulate the function of antigen-presenting cells. (J Neuroimmunol. 2008 Aug 30;200(1-2):62-70. Epub 2008 Jul 21.)
    Schwab N, Waschbisch A, Wrobel B, Lochmüller H, Sommer C, Wiendl H.
  • Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies. (Mol Cell Biochem. 2008 Sep;316(1-2):135-40. Epub 2008 Jun 14.)
    Heuss D, Klascinski J, Schubert SW, Moriabadi T, Lochmüller H, Hashemolhosseini S.
  • NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. (FASEB J. 2008 May;22(5):1521-9. Epub 2007 Dec 11.)
    Benayoun B, Baghdiguian S, Lajmanovich A, Bartoli M, Daniele N, Gicquel E, Bourg N, Raynaud F, Pasquier MA, Suel L, Lochmuller H, Lefranc G, Richard I.
  • UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? (PLoS One. 2008 Jun 18;3(6):e2477.)
    Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, North KN, Mitrani-Rosenbaum S.
  • 5' trans-splicing repair of the PLEC1 gene (J Invest Dermatol. 2008 Mar;128(3):568-74. Epub 2007 Nov 8.)
    Wally V, Klausegger A, Koller U, Lochmüller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW.
  • Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission (Expert Rev Mol Med. 2007 Aug 9;9(22):1-20.)
    Müller JS, Mihaylova V, Abicht A, Lochmüller H.
  • An episode of geniospasm in sleep: toward new insights into pathophysiology (Mov Disord. 2008 Jan 30;23(2):274-6.)
    Kharraz B, Reilich P, Noachtar S, Danek A.