Publikationen 2013
- Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard J-J, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet. 2013 Oct 15;22(20):4224–32.
- Bender A, Desplats P, Spencer B, Rockenstein E, Adame A, Elstner M, Laub C, Mueller S, Koob AO, Mante M, Pham E, Klopstock T, Masliah E. TOM40 mediates mitochondrial dysfunction induced by α-synuclein accumulation in Parkinson’s disease. PLoS ONE. 2013;8(4):e62277.
- Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013 Nov;34(11):1449–57.
- Bonfert M, Straube A, Schroeder AS, Reilich P, Ebinger F, Heinen F. Primary headache in children and adolescents: update on pharmacotherapy of migraine and tension-type headache. Neuropediatrics. 2013 Feb;44(1):3–19.
- Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow J-C, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):181–90.
- Böhm J, Vasli N, Malfatti E, Le Gras S, Feger C, Jost B, Monnier N, Brocard J, Karasoy H, Gérard M, Walter MC, Reilich P, Biancalana V, Kretz C, Messaddeq N, Marty I, Lunardi J, Romero NB, Laporte J. An integrated diagnosis strategy for congenital myopathies. PLoS ONE. 2013;8(6):e67527.
- Feldkirchner S, Walter MC, Müller S, Kubny C, Krause S, Kress W, Hanisch F-G, Schoser B, Schessl J. Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy. Neuromuscul Disord. 2013 May;23(5):418–26.
- Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard J-PL, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug;34(8):1160–71.
- Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard J-J, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R. Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia. 2013 Jul;61(7):1041–51.
- Güngör D, Schober AK, Kruijshaar ME, Plug I, Karabul N, Deschauer M, van Doorn PA, van der Ploeg AT, Schoser B, Hanisch F. Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab. 2013 Aug;109(4):371–6.
- Harafuji N, Schneiderat P, Walter MC, Chen Y-W. miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors. Orphanet J Rare Dis. 2013;8:55.
- Hartig M, Prokisch H, Meitinger T, Klopstock T. Mitochondrial membrane protein-associated neurodegeneration (MPAN). Int Rev Neurobiol. 2013;110:73–84.
- Hauber I, Hofmann-Sieber H, Chemnitz J, Dubrau D, Chusainow J, Stucka R, Hartjen P, Schambach A, Ziegler P, Hackmann K, Schröck E, Schumacher U, Lindner C, Grundhoff A, Baum C, Manz MG, Buchholz F, Hauber J. Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice. PLoS Pathog. 2013;9(9):e1003587.
- Hölter SM, Stromberg M, Kovalenko M, Garrett L, Glasl L, Lopez E, Guide J, Götz A, Hans W, Becker L, Rathkolb B, Rozman J, Schrewed A, Klingenspor M, Klopstock T, Schulz H, Wolf E, Wursta W, Gillis T, Wakimoto H, Seidman J, MacDonald ME, Cotman S, Gailus-Durner V, Fuchs H, de Angelis MH, Lee J-M, Wheeler VC. A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington’s disease CAG knock-in mice. PLoS ONE. 2013;8(11):e80923.
- Ju L, Wing J, Taylor E, Brandt R, Slijepcevic P, Horsch M, Rathkolb B, Rácz I, Becker L, Hans W, Adler T, Beckers J, Rozman J, Klingenspor M, Wolf E, Zimmer A, Klopstock T, Busch DH, Gailus-Durner V, Fuchs H, de Angelis MH, van der Horst G, Lehmann AR. SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities. DNA Repair (Amst). 2013 May 1;12(5):356–66.
- Kemter E, Prückl P, Rathkolb B, Micklich K, Adler T, Becker L, Beckers J, Busch DH, Götz AA, Hans W, Horsch M, Ivandic B, Klingenspor M, Klopstock T, Rozman J, Schrewe A, Schulz H, Fuchs H, Gailus-Durner V, Hrabé de Angelis M, Wolf E, Aigner B. Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice. PLoS ONE. 2013;8(10):e78337.
- Kipfer S, Jung S, Lemke JR, Kipfer-Kauer A, Howell JP, Kaelin-Lang A, Nyffeler T, Gutbrod K, Abicht A, Müri RM. Novel CACNA1A mutation(s) associated with slow saccade velocities. J Neurol. 2013 Dec;260(12):3010–4.
- Klopstock T, Metz G, Yu-Wai-Man P, Büchner B, Gallenmüller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF. Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy. Brain. 2013 Feb;136(Pt 2):e230.
- Klymiuk N, Blutke A, Graf A, Krause S, Burkhardt K, Wuensch A, Krebs S, Kessler B, Zakhartchenko V, Kurome M, Kemter E, Nagashima H, Schoser B, Herbach N, Blum H, Wanke R, Aartsma-Rus A, Thirion C, Lochmüller H, Walter MC, Wolf E. Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle. Hum Mol Genet. 2013 Nov 1;22(21):4368–82.
- Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb;45(2):214–9.
- Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK-H, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain. 2013 Dec;136(Pt 12):3634–44.
- Kriegmair MCM, Frenz S, Dusl M, Franz W-M, David R, Rupp RAW. Cardiac differentiation in Xenopus is initiated by mespa. Cardiovasc Res. 2013 Mar 1;97(3):454–63.
- Kugler JE, Horsch M, Huang D, Furusawa T, Rochman M, Garrett L, Becker L, Bohla A, Hölter SM, Prehn C, Rathkolb B, Racz I, Aguilar-Pimentel JA, Adler T, Adamski J, Beckers J, Busch DH, Eickelberg O, Klopstock T, Ollert M, Stöger T, Wolf E, Wurst W, Yildirim AÖ, Zimmer A, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Garfinkel B, Orly J, Ovcharenko I, Bustin M. High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner. J Biol Chem. 2013 Jun 7;288(23):16690–703.
- Lachmann R, Schoser B. The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?. Orphanet J Rare Dis. 2013;8:160.
- Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. J Neuropathol Exp Neurol. 2013 Sep;72(9):833–45.
- Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R. NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome. JIMD Rep. 2013;10:17–22.
- Müller SK, Bender A, Laub C, Högen T, Schlaudraff F, Liss B, Klopstock T, Elstner M. Lewy body pathology is associated with mitochondrial DNA damage in Parkinson’s disease. Neurobiol Aging. 2013 Sep;34(9):2231–3.
- Neff F, Flores-Dominguez D, Ryan DP, Horsch M, Schröder S, Adler T, Afonso LC, Aguilar-Pimentel JA, Becker L, Garrett L, Hans W, Hettich MM, Holtmeier R, Hölter SM, Moreth K, Prehn C, Puk O, Rácz I, Rathkolb B, Rozman J, Naton B, Ordemann R, Adamski J, Beckers J, Bekeredjian R, Busch DH, Ehninger G, Graw J, Höfler H, Klingenspor M, Klopstock T, Ollert M, Stypmann J, Wolf E, Wurst W, Zimmer A, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Ehninger D. Rapamycin extends murine lifespan but has limited effects on aging. J Clin Invest. 2013 Aug;123(8):3272–91.
- Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013 Dec;74(6):914–9.
- Perier C, Bender A, García-Arumí E, Melià MJ, Bové J, Laub C, Klopstock T, Elstner M, Mounsey RB, Teismann P, Prolla T, Andreu AL, Vila M. Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms. Brain. 2013 Aug;136(Pt 8):2369–78.
- Pertl C, Eblenkamp M, Pertl A, Pfeifer S, Wintermantel E, Lochmüller H, Walter MC, Krause S, Thirion C. A new web-based method for automated analysis of muscle histology. BMC Musculoskelet Disord. 2013;14:26.
- Peyer A-K, Abicht A, Heinimann K, Sinnreich M, Fischer D. Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. Neuromuscul Disord. 2013 Jul;23(7):571–4.
- Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol. 2013 Aug;9(8):474–81.
- Rose M. 188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands. Neuromuscul Disord. 2013;
- Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013 Jan 29;80(5):438–46.
- Rudolph G, Dimitriadis K, Büchner B, Heck S, Tamami J Al-, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T. Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. J Neuroophthalmol. 2013 Mar;33(1):30–6.
- Sansone VA, Brigonzi E, Schoser B, Villani S, Gaeta M, De Ambroggi G, Bandera F, De Ambroggi L, Meola G. The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes. Int J Cardiol. 2013 Sep 30;168(2):1147–53.
- Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Memar A Al-, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat. 2013 Aug;34(8):1111–8.
- Schessl J. Scapuloperoneal disorders and reducing body myopathy associated with the Four and half LIM domain protein 1. In: Goebel HH, Sewry CA, Weller RO, editors. Muscle Disease: Pathology and Genetics. John Wiley & Sons; 2013. p. 175–7.
- Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes. BMC Med Genet. 2013;14:92.
- Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B. [Diagnosis and therapy of late onset Pompe disease]. Nervenarzt. 2013 Dec;84(12):1467–72.
- Stevens E, Torelli S, Feng L, Phadke R, Walter MC, Schneiderat P, Eddaoudi A, Sewry CA, Muntoni F. Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS ONE. 2013;8(7):e68958.
- Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K. Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. J Neurol. 2013 Oct;260(10):2556–61.
- Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann K-T, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013;8:41.
- Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013 Apr;260(4):951–9.
- Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H. Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis. 2013;8:26.
- Yoon S, Stadler G, Beermann ML, Schmidt EV, Windelborn JA, Schneiderat P, Wright WE, Miller JB. Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research. Skelet Muscle. 2013;3(1):28.