Publikationen 2014
- Becker L, Kling E, Schiller E, Zeh R, Schrewe A, Hölter SM, Mossbrugger I, Calzada-Wack J, Strecker V, Wittig I, Dumitru I, Wenz T, Bender A, Aichler M, Janik D, Neff F, Walch A, Quintanilla-Fend L, Floss T, Bekeredjian R, Gailus-Durner V, Fuchs H, Wurst W, Meitinger T, Prokisch H, de Angelis MH, Klopstock T. MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy. PLoS ONE. 2014;9(12):e114918.
- Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GVG, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset J-M, Bloetzer C, Jeannet P-Y, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014 Jan;261(1):152–63.
- Blanco S, Dietmann S, Flores JV, Hussain S, Kutter C, Humphreys P, Lukk M, Lombard P, Treps L, Popis M, Kellner S, Hölter SM, Garrett L, Wurst W, Becker L, Klopstock T, Fuchs H, Gailus-Durner V, Hrabĕ de Angelis M, Káradóttir RT, Helm M, Ule J, Gleeson JG, Odom DT, Frye M. Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. EMBO J. 2014 Sep 17;33(18):2020–39.
- Boesch S, Nachbauer W, Mariotti C, Sacca F, Filla A, Klockgether T, Klopstock T, Schöls L, Jacobi H, Büchner B, vom Hagen JM, Nanetti L, Manicom K. Safety and tolerability of carbamylated erythropoietin in Friedreich’s ataxia. Mov Disord. 2014 Jun;29(7):935–9.
- Bonizec M, Hérissant L, Pokrzywa W, Geng F, Wenzel S, Howard GC, Rodriguez P, Krause S, Tansey WP, Hoppe T, Dargemont C. The ubiquitin-selective chaperone Cdc48/p97 associates with Ubx3 to modulate monoubiquitylation of histone H2B. Nucleic Acids Res. 2014;42(17):10975–86.
- Dilena R, Abicht A, Sergi P, Comi GP, Di Fonzo A, Chidini G, Natacci F, Barbieri S, Lochmüller H. Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis. J Child Neurol. 2014 Mar;29(3):389–93.
- Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF, Chinnery PF, Klopstock T. Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients. Orphanet J Rare Dis. 2014;9:158.
- Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol. 2014 Jan;261(1):207–12.
- Elbracht M, Senderek J, Schara U, Nolte K, Klopstock T, Roos A, Reimann J, Zerres K, Weis J, Rudnik-Schöneborn S. Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. Clin Neuropathol. 2014 Oct;33(5):335–43.
- Feeney EJ, Austin S, Chien Y-H, Mandel H, Schoser B, Prater S, Hwu W-L, Ralston E, Kishnani PS, Raben N. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients. Acta Neuropathol Commun. 2014;2:2.
- Gallenmüller C, Klopstock T. [Leber’s hereditary optic neuropathy - phenotype, genetics, therapeutic options]. Klin Monbl Augenheilkd. 2014 Mar;231(3):216–21.
- Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A. Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromuscul Disord. 2014 Jan;24(1):31–5.
- Gasperi C, Melms A, Schoser B, Zhang Y, Meltoranta J, Risson V, Schaeffer L, Schalke B, Kröger S. Anti-agrin autoantibodies in myasthenia gravis. Neurology. 2014 Jun 3;82(22):1976–83.
- Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. Neurology. 2014 Nov 4;83(19):1726–32.
- Ghannam K, Martinez-Gamboa L, Spengler L, Krause S, Smiljanovic B, Bonin M, Bhattarai S, Grützkau A, Burmester G-R, Häupl T, Feist E. Upregulation of immunoproteasome subunits in myositis indicates active inflammation with involvement of antigen presenting cells, CD8 T-cells and IFNΓ. PLoS ONE. 2014;9(8):e104048.
- Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre A-S, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet J Rare Dis. 2014;9:119.
- Jauhari P, Sahu JK, Roos A, Senderek J, Vyas S, Singhi P. SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India. J Pediatr Neurosci. 2014 Dec;9(3):291–2.
- 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 Jun;112(2):148–53.
- 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.
- Kemter E, Rathkolb B, Becker L, Bolle I, Busch DH, Dalke C, Elvert R, Favor J, Graw J, Hans W, Ivandic B, Kalaydjiev S, Klopstock T, Rácz I, Rozman J, Schrewe A, Schulz H, Zimmer A, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Wolf E, Aigner B. Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice. J Biomed Sci. 2014;21:68.
- Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 2014 Dec 4;95(6):708–20.
- Kraus P, V S, Yu HB, Xing X, Lim SL, Adler T, Pimentel JAA, Becker L, Bohla A, Garrett L, Hans W, Hölter SM, Janas E, Moreth K, Prehn C, Puk O, Rathkolb B, Rozman J, Adamski J, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Neff F, Ollert M, Stoeger T, Yildrim AÖ, Eickelberg O, Wolf E, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Lufkin T, Stanton LW. Pleiotropic functions for transcription factor zscan10. PLoS ONE. 2014;9(8):e104568.
- Larsen M, Rost S, Hajj N El, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. Eur J Hum Genet. 2014 Nov 5;
- Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D, CMT-TRIAAL/CMT-TRAUK Group, Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients. Neuromuscul Disord. 2014 Nov;24(11):1003–17.
- Merlini L, Nishino I, 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 Jun;24(6):546–61.
- Mishra A, Traut MH, Becker L, Klopstock T, Stein V, Klein R. Genetic evidence for the adhesion protein IgSF9/Dasm1 to regulate inhibitory synapse development independent of its intracellular domain. J Neurosci. 2014 Mar 19;34(12):4187–99.
- Mora M, Angelini C, Bignami F, Bodin A-M, Crimi M, Di Donato J-H, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet. 2014 Dec 24;
- Müller TJ, Kraya T, Stoltenburg-Didinger G, Hanisch F, Kornhuber M, Stoevesandt D, Senderek J, Weis J, Baum P, Deschauer M, Zierz S. Phenotype of matrin-3-related distal myopathy in 16 German patients. Ann Neurol. 2014 Nov;76(5):669–80.
- Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille M-J, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain. 2014 Sep;137(Pt 9):2429–43.
- Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev. 2014;11:CD003458.
- Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. Acta Neuropathol. 2014 May;127(5):761–77.
- Rosenbohm A, Süssmuth SD, Kassubek J, Müller H-P, Pontes C, Abicht A, Bulst S, Ludolph AC, Pinkhardt E. Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II. Muscle Nerve. 2014 Mar;49(3):446–50.
- Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol. 2014 May;261(5):970–82.
- Schessl J, Bach E, Rost S, Feldkirchner S, Kubny C, Müller S, Hanisch F-G, Kress W, Schoser B. Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics. 2014 Aug;15(3):151–6.
- Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Novel TPM3 mutation in a family with cap myopathy and review of the literature. Neuromuscul Disord. 2014 Feb;24(2):117–24.
- Schreiber-Katz O, Klug C, Thiele S, Schorling E, Zowe J, Reilich P, Nagels KH, Walter MC. Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany. Orphanet J Rare Dis. 2014;9:210.
- Stribl C, Samara A, Trümbach D, Peis R, Neumann M, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Rathkolb B, Wolf E, Beckers J, Horsch M, Neff F, Kremmer E, Koob S, Reichert AS, Hans W, Rozman J, Klingenspor M, Aichler M, Walch AK, Becker L, Klopstock T, Glasl L, Hölter SM, Wurst W, Floss T. Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43. J Biol Chem. 2014 Apr 11;289(15):10769–84.
- Synofzik M, Born C, Rominger A, Lummel N, Schöls L, Biskup S, Schüle C, Grasshoff U, Klopstock T, Adamczyk C. Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. Neurobiol Aging. 2014 May;35(5):1212.e1–5.
- Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 2;312(1):68–77.
- Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W. Long-term follow-up in patients with CCFDN syndrome. Neurology. 2014 Oct 7;83(15):1337–44.
- Wenninger S, Schoser B. Intravenöse Immunglobuline sind die Therapie der ersten Wahl bei der CIDP. Aktuelle Neurologie. 2014 Mar 21;41(03):173–7.
- Wenninger S, Schoser B. The frequency of neuromyotonia in 37 patients previous diagnosed as benign cramp-fasciculation syndrome. Klinische Neurophysiologie. 2014 Mar 12;45(01).
- Wirsching A, Müller-Felber W, Schoser B. Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement?. J Clin Neurophysiol. 2014 Aug;31(4):362–6.
- Zumbrennen-Bullough KB, Becker L, Garrett L, Hölter SM, Calzada-Wack J, Mossbrugger I, Quintanilla-Fend L, Racz I, Rathkolb B, Klopstock T, Wurst W, Zimmer A, Wolf E, Fuchs H, Gailus-Durner V, de Angelis MH, Romney SJ, Leibold EA. Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments. PLoS ONE. 2014;9(6):e98072.