Publikationen 2015
- Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet P-Y, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, Sherif R El, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmüller H. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations. Hum Mutat. 2015 Jan 21;
- Boentert M, Karabul N, Wenninger S, Stubbe-Dräger B, Mengel E, Schoser B, Young P. Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease. Eur J Neurol. 2015 Feb;22(2):369–76, e27.
- Bührdel JB, Hirth S, Kessler M, Westphal S, Forster M, Manta L, Wiche G, Schoser B, Schessl J, Schröder R, Clemen CS, Eichinger L, Fürst DO, van der Ven PFM, Rottbauer W, Just S. In vivo characterization of human myofibrillar myopathy genes in zebrafish. Biochem Biophys Res Commun. 2015 May 29;461(2):217–23.
- Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromuscul Disord. 2015 Sep;25(9):713–8.
- Distelmaier F, Haack TB, Catarino CB, Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T. MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy. Neurogenetics. 2015 Oct;16(4):319–23.
- Eckenweiler M, Catarino CB, Gallenmüller C, Klopstock T, Lagrèze WA, Korinthenberg R, Kirschner J. Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy. J Neurol. 2015 Dec;262(12):2776–9.
- Van Engelen B, Abghari S, Aschrafi A, Bouman S, Cornelissen Y, Glennon J, Groot P, Heerschap A, Heskamp L, Heskes T, Kapusta K, Klerks E, Knoop H, Maas D, Okkersen K, Poelmans G, Rahmadi R, van Nimwegen M, Gorman G, Moreno C, Lochmuller H, Trenell M, van Laar S, Wood L, Schoser B, Wenninger S, Schuller A, Auguston M, Baptiste L, Barau C, Bassez G, Chevalier P, Couppey F, Delmas S, Deux J-F, Dogan C, Hamadouche A, Hankiewicz K, Lhermet L, Minier L, Rialland A, Schmitz D, Monckton DG, Cumming SA, Adam B, Donnan P, Hannah M, Hogarth F, Littleford R, McKenzie E, Rauchhaus P, Wilkie E, Williamson J, Catt M, Dittrich J, Schwalber A, Treweek S. Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials. 2015;16:224.
- Frese S, Ruebner M, Suhr F, Konou TM, Tappe KA, Toigo M, Jung HH, Henke C, Steigleder R, Strissel PL, Huebner H, Beckmann MW, van der Keylen P, Schoser B, Schiffer T, Frese L, Bloch W, Strick R. Long-Term Endurance Exercise in Humans Stimulates Cell Fusion of Myoblasts along with Fusogenic Endogenous Retroviral Genes In Vivo. PLoS ONE. 2015;10(7):e0132099.
- Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol. 2015 Jan;72(1):106–11.
- Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer J-M, Kölker S, Prokisch H, Klopstock T. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol. 2015 May;2(5):492–509.
- Hoffmann GF, Smit PA, Schoser B. Glycogen storage diseases of all types. J Inherit Metab Dis. 2015 May;38(3):389–90.
- Hrabě de Angelis M, Nicholson G, Selloum M, White JK, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling M-C, Blake A, Bottomley J, Bowl MR, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy M-F, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, Fertak LE, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin A-K, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel J-L, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LMJ, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demoulière B, Pickard A, Podrini C, Potter P, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schäble K-H, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stöger C, Stöger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Wattenhofer-Donze M, Weber B, Wendling O, Westerberg H, Willershäuser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AÖ, Zeh R, Zimmer A, Zimprich A, EUMODIC Consortium, Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon A-M, Brown SDM. Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nat Genet. 2015 Sep;47(9):969–78.
- Jones K, Wei C, Schoser B, Meola G, Timchenko N, Timchenko L. Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5. Proc Natl Acad Sci USA. 2015 Jun 30;112(26):8041–5.
- Krause S. Insights into muscle degeneration from heritable inclusion body myopathies. Front Aging Neurosci. 2015;7:13.
- Kuhm C, Gallenmüller C, Dörk T, Menzel M, Biskup S, Klopstock T. Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. J Neurol. 2015 Mar;262(3):768–70.
- Landgraf MN, Ertl-Wagner B, Koerte IK, Thienel J, Langhagen T, Straube A, von Kries R, Reilich P, Pomschar A, Heinen F. Alterations in the trapezius muscle in young patients with migraine - A pilot case series with MRI. Eur J Paediatr Neurol. 2015 Jan 8;
- Lee S, Rose S, Metodiev MD, Becker L, Vernaleken A, Klopstock T, Gailus-Durner V, Fuchs H, Hrabě De Angelis M, Douthwaite S, Larsson N-G. Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing. Hum Mol Genet. 2015 Dec 20;24(25):7286–94.
- Meinke P, Schneiderat P, Srsen V, Korfali N, Lê Thành P, Cowan GJM, Cavanagh DR, Wehnert M, Schirmer EC, Walter MC. Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2015 Feb;25(2):127–36.
- Meyer SU, Sass S, Mueller NS, Krebs S, Bauersachs S, Kaiser S, Blum H, Thirion C, Krause S, Theis FJ, Pfaffl MW. Integrative Analysis of MicroRNA and mRNA Data Reveals an Orchestrated Function of MicroRNAs in Skeletal Myocyte Differentiation in Response to TNF-α or IGF1. PLoS ONE. 2015;10(8):e0135284.
- Meyer SU, Thirion C, Polesskaya A, Bauersachs S, Kaiser S, Krause S, Pfaffl MW. TNF-α and IGF1 modify the microRNA signature in skeletal muscle cell differentiation. Cell Commun Signal. 2015 Jan 29;13(1):4.
- Meyer SU, Krebs S, Thirion C, Blum H, Krause S, Pfaffl MW. Tumor Necrosis Factor Alpha and Insulin-Like Growth Factor 1 Induced Modifications of the Gene Expression Kinetics of Differentiating Skeletal Muscle Cells. PLoS ONE. 2015;10(10):e0139520.
- 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 Sep;25(9):719–24.
- Obayashi M, Stevanin G, Synofzik M, Monin M-L, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann H-E, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schöls L, Klopstock T, Brice A, Ishikawa K, Dürr A. Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. J Neurol Neurosurg Psychiatr. 2015 Sep;86(9):986–95.
- Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, Hagen JM Vom, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB. Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 2015 Feb;14(2):174–82.
- Rose MR, Jones K, Leong K, Walter MC, Miller J, Dalakas MC, Brassington R, Griggs R. Treatment for inclusion body myositis. In: The Cochrane Collaboration, editor. Cochrane Database of Systematic Reviews. Chichester, UK: John Wiley & Sons, Ltd; 2015.
- Saarikangas J, Kourdougli N, Senju Y, Chazal G, Segerstråle M, Minkeviciene R, Kuurne J, Mattila PK, Garrett L, Hölter SM, Becker L, Racz I, Hans W, Klopstock T, Wurst W, Zimmer A, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, von Ossowski L, Taira T, Lappalainen P, Rivera C, Hotulainen P. MIM-Induced Membrane Bending Promotes Dendritic Spine Initiation. Dev Cell. 2015 Jun 22;33(6):644–59.
- Sansone VA, Gagnon C, participants of the 207th ENMC Workshop. 207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27-29 June 2014, Naarden, The Netherlands. Neuromuscul Disord. 2015 May;25(5):432–42.
- Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T, German Consortium for Frontotemporal Lobar Degeneration, Bavarian Brain Banking Alliance, Arzberger T, Edbauer D. Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol. 2015 Oct;130(4):537–55.
- Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T, German Consortium for Frontotemporal Lobar Degeneration, Bavarian Brain Banking Alliance, Arzberger T, Edbauer D. Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol. 2015 Oct;130(4):557–8.
- Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT, European Pompe Consortium (EPOC). 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014. Neuromuscul Disord. 2015 Aug;25(8):674–8.
- Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015 Feb 3;84(5):523–31.
- Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T. Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene. J Neurol. 2015;262(4):1072–3.
- Thor T, Künkele A, Pajtler KW, Wefers AK, Stephan H, Mestdagh P, Heukamp L, Hartmann W, Vandesompele J, Sadowski N, Becker L, Garrett L, Hölter SM, Horsch M, Calzada-Wack J, Klein-Rodewald T, Racz I, Zimmer A, Beckers J, Neff F, Klopstock T, De Antonellis P, Zollo M, Wurst W, Fuchs H, Gailus-Durner V, Schüller U, de Angelis MH, Eggert A, Schramm A, Schulte JH. MiR-34a deficiency accelerates medulloblastoma formation in vivo. Int J Cancer. 2015 May 15;136(10):2293–303.
- Tischner C, Hofer A, Wulff V, Stepek J, Dumitru I, Becker L, Haack T, Kremer L, Datta AN, Sperl W, Floss T, Wurst W, Chrzanowska-Lightowlers Z, De Angelis MH, Klopstock T, Prokisch H, Wenz T. MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention. Hum Mol Genet. 2015 Apr 15;24(8):2247–66.
- Vill K, Schessl J, Teusch V, Schroeder S, Blaschek A, Schoser B, Müller-Felber W. Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants. Neuromuscul Disord. 2015 Feb;25(2):120–6.
- Vill K, Kuhn M, Gläser D, Walter MC, Müller-Felber W. Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene. Neuropediatrics. 2015 Aug;46(4):282–6.
- Villiger PM, Schoser B. Myalgia and myopathy. Z Rheumatol. 2015 Aug;74(6):488–9.
- Walter MC. Update Therapie bei Muskeldystrophien. Drug Res (Stuttg). 2015 Nov;65 Suppl 1:S24.
- Walter MC, Rossius M, Zitzelsberger M, Vorgerd M, Müller-Felber W, Ertl-Wagner B, Zhang Y, Brinkmeier H, Senderek J, Schoser B. 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. Neuromuscul Disord. 2015 Jul;25(7):577–84.
- Wenninger S, Schoser B. Rationale Diagnostik und Therapie von Myopathien. Nervenheilkunde. 2015;34(10):767–77.
- Wenninger S, Schoser B. Das Spektrum der Neuromyotonie: Klinik, Therapie und Langzeitverlauf. Fortschritte der Neurologie · Psychiatrie. 2015 Sep 1;83(08):457–62.
- Wenninger S, Schoser B. Behandelbare neuromuskuläre Erkrankungen als wichtige Differentialdiagnose der chronisch-progredienten Dyspnoe im höheren Erwachsenenalter. Pneumologe. 2015 Aug 5;12(5):420–5.