Publikationen 2009

  • Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts (Neuromuscul Disord. 2009 Nov;19(11):766-72. Epub 2009 Oct 13.)
    Vesa J, Su H, Watts GD, Krause S, Walter MC, Martin B, Smith C, Wallace DC, Kimonis VE.
  • Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. (Brain. 2009 Nov;132(Pt 11):3165-74. Epub 2009 Aug 31.)
    Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S.
  • Consequences of mutations within the C terminus of the FHL1 gene. (Neurology. 2009 Aug 18;73(7):543-51)
    Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.
  • Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. (J Neurol. 2010 Jan;257(1):91-7. Epub 2009 Aug 1.)
    Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.
  • Metabolic myopathies - an overview (Pathologe. 2009 Sep;30(5):370-8.)
    Lammens M, Schoser B.
  • Absence of a differentiation defect in muscle satellite cells from DM2 patients. (Neurobiol Dis. 2009 Oct;36(1):181-90. Epub 2009 Jul 24.)
    Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, Tarnopolsky M, Schoser B, Puymirat J.
  • Perceived pain and temporomandibular disorders in neuromuscular diseases. (Muscle Nerve. 2009 Oct;40(4):595-602.)
    Fischer MJ, Riedlinger K, Schoser B, Bernateck M.
  • Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy. (Hum Mol Genet. 2009 Nov 1;18(21):4089-101. Epub 2009 Jul 31.)
    Giacomotto J, Pertl C, Borrel C, Walter MC, Bulst S, Johnsen B, Baillie DL, Lochmüller H, Thirion C, Ségalat L.
  • Lower limb radiology of distal myopathy due to the S60F myotilin mutation. (Eur Neurol. 2009;62(3):161-6. Epub 2009 Jul 3.)
    McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H, Chinnery PF.
  • Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. (Neuromuscul Disord. 2009 Jul;19(7):481-4. Epub 2009 Jun 23.)
    Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S.
  • Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy. (Hum Gene Ther. 2009 Jun;20(6):641-50.)
    Jørgensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RW, Stucka R, Thirion C, Walter MC, Laval SH, Lochmüller H.
  • In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. (Hum Mol Genet. 2009 May 1;18(9):1590-9. Epub 2009 Feb 16.)
    Bulst S, Abicht A, Holinski-Feder E, Müller-Ziermann S, Koehler U, Thirion C, Walter MC, Stewart JD, Chinnery PF, Lochmüller H, Horvath R.
  • Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. (Neuromuscul Disord. 2009 Feb;19(2):167-71. Epub 2009 Jan 23.)
    Baumeister SK, Todorovic S, Mili?-Rasi? V, Dekomien G, Lochmüller H, Walter MC.
  • Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (Brain. 2009 Jan;132(Pt 1):147-55. Epub 2008 Nov 16.)
    Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM.
  • Inflammatory myopathies (Z Rheumatol. 2009 Oct;68(8):665-75; quiz 676-7.)
    Schoser B.
  • Reduction of the rate of protein translation in patients with myotonic dystrophy 2. (J Neurosci. 2009 Jul 15;29(28):9042-9.)
    Huichalaf C, Schoser B, Schneider-Gold C, Jin B, Sarkar P, Timchenko L.
  • Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. (Am J Pathol. 2009 Aug;175(2):748-62. Epub 2009 Jul 9.)
    Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko NA, Timchenko LT.
  • Myofibrillar myopathies: a clinical and myopathological guide. (Brain Pathol. 2009 Jul;19(3):483-92.)
    Schröder R, Schoser B.
  • Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. (Hum Mutat. 2009 Sep;30(9):E831-44.)
    Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen M, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B.
  • Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles. (Clin Neuropathol. 2009 Jan-Feb;28(1):59-70.)
    Schoser B.
  • Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. (Neuromuscul Disord. 2009 Mar;19(3):223-8. Epub 2009 Feb 8.)
    Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P.
  • How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2. (Neurology. 2009 Feb 10;72(6):484-5.)
    Schoser B, Ashizawa T.
  • Neuron-glia communication via EphA4/ephrin-A3 modulates LTP through glial glutamate transport. (Nat Neurosci. 2009 Oct;12(10):1285-92. Epub 2009 Sep 6.)
    Filosa A, Paixão S, Honsek SD, Carmona MA, Becker L, Feddersen B, Gaitanos L, Rudhard Y, Schoepfer R, Klopstock T, Kullander K, Rose CR, Pasquale EB, Klein R.
  • Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome. (J Neurosci. 2009 Jul 29;29(30):9439-49.)
    Wirth EK, Roth S, Blechschmidt C, Hölter SM, Becker L, Racz I, Zimmer A, Klopstock T, Gailus-Durner V, Fuchs H, Wurst W, Naumann T, Bräuer A, de Angelis MH, Köhrle J, Grüters A, Schweizer U.
  • Comparison of three clinical rating scales in Friedreich ataxia (FRDA). (Mov Disord. 2009 Sep 15;24(12):1779-84.)
    Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig TM, Haug V, Timmann D, Degen I, Kruse B, Dörr JM, Ratzka S, Ivo A, Schöls L, Boesch S, Klockgether T, Klopstock T, Schulz JB.
  • Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes. (PLoS One. 2009 Jun 29;4(6):e6054.)
    Rubio-Aliaga I, Przemeck GK, Fuchs H, Gailus-Durner V, Adler T, Hans W, Horsch M, Rathkolb B, Rozman J, Schrewe A, Wagner S, Hoelter SM, Becker L, Klopstock T, Wurst W, Wolf E, Klingenspor M, Ivandic BT, Busch DH, Beckers J, Hrabé de Angelis M.
  • Gene-environment interactions in Leber hereditary optic neuropathy. (Brain. 2009 Sep;132(Pt 9):2317-26. Epub 2009 Jun 12.)
    Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF.
  • A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice. (Cell. 2009 May 29;137(5):961-71.)
    Enard W, Gehre S, Hammerschmidt K, Hölter SM, Blass T, Somel M, Brückner MK, Schreiweis C, Winter C, Sohr R, Becker L, Wiebe V, Nickel B, Giger T, Müller U, Groszer M, Adler T, Aguilar A, Bolle I, Calzada-Wack J, Dalke C, Ehrhardt N, Favor J, Fuchs H, Gailus-Durner V, Hans W, Hölzlwimmer G, Javaheri A, Kalaydjiev S, Kallnik M, Kling E, Kunder S, Mossbrugger I, Naton B, Racz I, Rathkolb B, Rozman J, Schrewe A, Busch DH, Graw J, Ivandic B, Klingenspor M, Klopstock T, Ollert M, Quintanilla-Martinez L, Schulz H, Wolf E, Wurst W, Zimmer A, Fisher SE, Morgenstern R, Arendt T, de Angelis MH, Fischer J, Schwarz J, Pääbo S.
  • SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. (Nat Genet. 2009 May 24. [Epub ahead of print])
    Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M.
  • The mitochondrial proteome database: MitoP2. (Methods Enzymol. 2009;457:3-20.)
    Elstner M, Andreoli C, Klopstock T, Meitinger T, Prokisch H.
  • Mapping gene associations in human mitochondria using clinical disease phenotypes. (PLoS Comput Biol. 2009 Apr;5(4):e1000374. Epub 2009 Apr 24.)
    Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW.
  • Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. (J Neurol. 2009 Sep;256(9):1555-7. Epub 2009 Apr 18.)
    Haack T, Friday D, Bender A, Rolfs A, Klopstock T.
  • Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa. (Am J Psychiatry. 2009 Apr;166(4):494-5.)
    Feddersen B, DE LA Fontaine L, Sass JO, Lutz J, Abicht A, Klopstock T, Verma IC, Meisenzahl E, Pogarell O.
  • Systemic first-line phenotyping. (Methods Mol Biol. 2009;530:463-509.)
    Gailus-Durner V, Fuchs H, Adler T, Aguilar Pimentel A, Becker L, Bolle I, Calzada-Wack J, Dalke C, Ehrhardt N, Ferwagner B, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Mörth C, Mossbrugger I, Naton B, Prehn C, Puk O, Rathkolb B, Rozman J, Schrewe A, Thiele F, Adamski J, Aigner B, Behrendt H, Busch DH, Favor J, Graw J, Heldmaier G, Ivandic B, Katus H, Klingenspor M, Klopstock T, Kremmer E, Ollert M, Quintanilla-Martinez L, Schulz H, Wolf E, Wurst W, de Angelis MH.
  • Quality of life in patients with leber hereditary optic neuropathy. (Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3112-5. Epub 2009 Feb 28.)
    Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P.
  • Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia. (J Neurol. 2009 May;256(5):810-5. Epub 2009 Mar 1.)
    Horváth R, Bender A, Abicht A, Holinski-Feder E, Czermin B, Trips T, Schneiderat P, Lochmüller H, Klopstock T.
  • The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models. (Curr Pharm Biotechnol. 2009 Feb;10(2):236-43.)
    Fuchs H, Gailus-Durner V, Adler T, Pimentel JA, Becker L, Bolle I, Brielmeier M, Calzada-Wack J, Dalke C, Ehrhardt N, Fasnacht N, Ferwagner B, Frischmann U, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Maier H, Mossbrugger I, Mörth C, Naton B, Nöth U, Pasche B, Prehn C, Przemeck G, Puk O, Racz I, Rathkolb B, Rozman J, Schäble K, Schreiner R, Schrewe A, Sina C, Steinkamp R, Thiele F, Willershäuser M, Zeh R, Adamski J, Busch DH, Beckers J, Behrendt H, Daniel H, Esposito I, Favor J, Graw J, Heldmaier G, Höfler H, Ivandic B, Katus H, Klingenspor M, Klopstock T, Lengeling A, Mempel M, Müller W, Neschen S, Ollert M, Quintanilla-Martinez L, Rosenstiel P, Schmidt J, Schreiber S, Schughart K, Schulz H, Wolf E, Wurst W, Zimmer A, Hrabé de Angelis M.
  • Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in plasma enzyme activities as novel organ-specific disease models. (Exp Physiol. 2009 Apr;94(4):412-21. Epub 2009 Jan 16.)
    Aigner B, Rathkolb B, Klaften M, Sedlmeier R, Klempt M, Wagner S, Michel D, Mayer U, Klopstock T, de Angelis MH, Wolf E.
  • Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. (Biochim Biophys Acta. 2009 May;1787(5):371-6. Epub 2008 Dec 9.)
    Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A, Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch H, Klopstock T.
  • Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. (Nat Genet. 2009 Jul;41(7):833-7. Epub 2009 Jun 7.)
    Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA.
  • Intercellular exchanges of membrane fragments (trogocytosis) between human muscle cells and immune cells: a potential mechanism for the modulation of muscular immune responses. (J Neuroimmunol. 2009 Apr 30;209(1-2):131-8. Epub 2009 Mar 9.)
    Waschbisch A, Meuth SG, Herrmann AM, Wrobel B, Schwab N, Lochmüller H, Wiendl H.