Publikationen

Schara U, Barisic N, Deschauer M, Lindberg C, Straub V, Strigl-Pill N, Wendt M, Abicht A, Müller JS, Lochmüller H.
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul disord 2009; Epub ahead of print
Abstract noch nicht verfügbar

Vesa J, Su H, Watts GD, Krause S, Walter MC, Martin B, Smith C, Wallace DC, Kimonis VE.
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord 2009; Epub ahead of print
Abstract

Horvath R, Kemp JP, Tuppen HAL, Hudson G, Oldfors A, Marie SKN, 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 Andrea, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain 2009; Epub ahead of print
Abstract

Vishnudas VK, Miller JB.
Ku70 regulates Bax-mediated pathogenesis in laminin-α2-deficient human muscle cells and mouse models of congenital muscular dystrophy. Hum Mol Genet 2009, Epub ahead of print
Abstract

Schoser BGH, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.
Consequences of mutations within the C terminus of the FHL1 gene. Neurology 2009, 73:543-551
Abstract

Salisbury E, Schoser BGH, Schneider-Gold Ch, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko N, Timchenko L.
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol 2009, 748-762
Abstract

Huichalaf C, Schoser BGH, Schneider-Gold Ch, Jin B, Sarkar P, Timchenko L.
Reduction of Protein Translation in Patients with Myotonic Dystrophy 2. J Neurosci 2009, 29:9042-9049
Abstract

McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H, Chinnery PF.
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation. Eur Neurol 2009, 62:161-166
Abstract

Garcia-Angarita N, Kirschner JB, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S.
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. Neuromuscul Disord 2009, 19:481-484
Abstract

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, von der Hagen M, Hübner A, Lochmüller H, Wrogemann K, Thornell LE, Derek JB, Schoser BGH.
Intragenic Deletion of TRIM32 in Compound Heterozygotes with Sarcotubular Myopathy/LGMD2H. Hum Mutat 2009, Epub ahead of print
Abstract

Schröder R, Schoser BGH.
Myofibrillar Myopathies: A Clinical and Myopathological Guide. Brain Pathology 2009, 19:483-492
Abstract

Amthor H, Otto A, Vulin A, Rochat A, Dumonceaux J, Garcia L, Mouisel E, Hourdé Ch, Macharia R, Friedrichs M, Relaix F, Zammit PS, Matsakas A, Patel K, Partridge T.
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. PNAS 2009, 106:7479-7484
Abstract

 

Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Sacavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009;132:452-464.
Abstract

Goehringer C, Rutschow D, Bauer R, Schinkel S, Weichenhan D, Bekeredjian R, Straub V, Kleinschmidt JA, Katus HA, Müller OJ.
Prevention of cardiomyopathy in δ-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vestors. Cardiovasc Res 2009, 82:404-410
Abstract

 

Jøergensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RWR, Stucka R, Thirion Ch, Walter MC, Laval SH, Lochmüller H.
Efficient and Fast Functional Screening of Microdystrophin Constructs In Vivo and In Vitro for Therapy of Duchenne Muscular Dystrophy. Hum Gene Ther 2009, 20:641-650
Abstract

Waschbisch A, Meuth SG, Herrmann AM, Wrobel B, Schwab N, Lochmüller H, Wiendl H.
Intercellular exchanges of membrane fragments (trogocytosis) between human muscle cells and immune cells: A potential mechanism for the modulation of immune responses. J Neuroimmunol 2009, 209:131-138
Abstract

Baumeister SK, Todorovic S, Milic-Rasic V, Dekomien G, Lochmüller H, Walter MC.
Eosinophilic myositis as presenting symptom in γ-sarcoglycanopathy. Neuromuscul Disord 2009,19:167-171
Abstract

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 KMD.
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132:147-155
Abstract

Schoser BGH, Hill V, Raben N.
Therapeutic approaches in Glycogen Storage Disease Type II/Pompe Disease. Neurotherapeuthics 2008, 5:569-578
Abstract

Schara U, Lochmüller H.
Therapeutic strategies in Congenital Myasthenic Syndromes. Neurotherapeutics 2008, 5:542-547
Abstract

Waschbisch A, Wintterle S, Lochmüller H, Walter MC, Wischhusen J, Kieseier BC, Wiendl H.
Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions. Arthritis Rheum 2008, 58(11):3600-3608
Abstract

Schessl J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J.
Phenotypic variability in siblings with Calpainopathy (LGMD2A). Acta Myol 2008, 17:54-58
Abstract

Schwab N, Waschbisch A, Wrobel B, Lochmüller H, Sommer C, Wiendl H.
Human myoblasts modulate the function of antigen-presenting cells. J Neuroimmunol 2008, 200:62-70
Abstract

Müller OJ, Lochmüller H.
Sarcoglycans take center stage in gene transfer therapy. Neurology 2008, 71:234-235
Abstract

Strach K, Meyer C, Grohé C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär B, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Sommer T, Schröder R.
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 2008, 18:475-482
Abstract

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V.
Developemental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain 2008, 131:1551-1561
Abstract

Hjermind LE, Vissing J, Asmus F, Krag T, Lochmüller H, Walter MC, Erdal J, Blake DJ, Nielsen JE.
No muscle involvement in myoclonus-dystonia caused by ε-sarcoglycan gene mutations. Eur J Neurol 2008, 15:525-529
Abstract

Krüger J, Kunert-Keil C, Bisping F, Brinkmeier H.
Transient receptor potential cation channels in normal and dystrophic mdx muscle. Neuromuscul Disord 2008, 18:501-513
Abstract

Schmidt J, Barthel K, Wrede A, Salajegheh M, Bähr M, Dalakas MC.
Interrelation of inflammation and APP in sIBM: IL-Iβ induces accumulation of β-amyloid in skeletal muscle. Brain 2008;131:1228-1240
Abstract

Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K.
Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord 2008;18:288-290
Abstract

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.
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008, 131:747-759
Abstract

Wally V, Klausegger A, Koller U, Lochmüller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW.
5' trans-splicing repair of the PLEC1 gene. J Invest Dermatol 2008, 128:568-574
Abstract

Mihaylova V, Müller T, Petrova I, Tournev I, Cherninkova S, Walter MC, Deschauer M.
Unique PABPN1 gene mutation in a large Bulgarian family with OPMD. J Neurol 2008, 255:609-611
Abstract

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest 2008, 118:904-912
Abstract

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.
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008, 82:88-99
Abstract

Meyer T, Jurkat-Rott K, Hübner A, Lehmann-Horn F, Linke P, Van Landeghem F, Dullinger JS, Spuler S.
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation. Muscle Nerve 2008, 37:120-124
Abstract

Benayoun B, Baghdiguian S, Lajmanovich A, Bartoli M, Daniele N, Gicquel E, Bourg N, Raynaud F, Pasquier MA, Suel L, Lochmüller H, Lefranc G, Richard I.
NF-{kappa}B-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, 22:1521-1529
Abstract

Kley RA, Hellenbroich Y, van der Ven PFM, Fürst DO, Hübner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007, 130:3250-3264
Abstract

Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM.
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain 2007, 130:3237-3249
Abstract

Kandert S, Lüke Y, Kleinhenz T, Neumann S, Lu W, Jaeger VM, Munck M, Wehnert M, Müller CR, Zhou Z, Noegel AA, Dabauvalle MC, Karakesisoglou I.
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. Hum Mol Genet 2007, 16:2944-2959
Abstract

Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM.
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007, 16:2816-2833
Abstract

Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J.
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics 2007, 8:279-288
Abstract

Schara U, Kress W, Bönnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M.
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 2008, 12:224-230
Abstract

Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser BGH.
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007, 17:698-706
Abstract

Schoser BGH, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W.
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol 2007, 33:544-559
Abstract

Krause S, Göhringer T, Walter MC, Schoser BGH, Reilich P, Linn J, Pöpperl GE, Frölich L, Hentschel F, Lochmüller H, Danek A.
Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. Clin Neuropathol 2007, 26:232-240
Abstract

Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H.
GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 2007, 69:655-659
Abstract

Müller JS, Mihaylova V, Abicht A, Lochmüller H.
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 2007, 9:1-20
Abstract

Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BGH, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R.
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007, 130:2037-2044
Abstract

Walter MC, Reilich P, Hübner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BGH, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007, 130:1485-1496
Abstract

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Hübner A, Beeson D, Abicht A, Lochmüller H.
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007, 130:1497-1506
Abstract

Löwe T, Kley RA, van der Ven PF, Himmel M, Hübner A, Vorgerd M, Fürst DO.
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet 2007, 16:1351-1358
Abstract

Janiesch PC, Kim J, Mouysset J, Barikbin R, Lochmüller H, Cassata G, Krause S, Hoppe T.
The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nat Cell Biol 2007, 9:379-390
Abstract

Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K.
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Neurogenetics 2007, 8:137-142
Abstract

Meinen S, Barzaghi P, Lin S, Lochmüller H, Ruegg MA.
Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages. J Cell Biol 2007, 176:979-993
Abstract

Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W.
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 2007, 80:478-484
Abstract

Weiss C, Jakubiczka S, Hübner A, Klopocki E, Kress W, Voit T, Hübner C, Schuelke M.
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. Muscle Nerve 2007, 35:396-401
Abstract

Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R.
Pathological consequences of VCP mutations on human striated muscle. Brain 2007, 130:381-393
Abstract

Horvath R, Kley RA, Lochmüller H, Vorgerd M.
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007, 68:56-58
Abstract

Schröder R, Vrabie A, Goebel HH. Primary desminopathies. J Cell Mol Med, 2007;11:416-426
Abstract

Kunert-Keil C, Bisping F, Krüger J, Brinkmeier H.
Tissue-specific expression of TRP channel genes in the mouse and its variation in three different mouse strains. BMC Genomics 2006, 7:159
Abstract

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Hübner A, Webster R, Beeson D, Lochmüller H, Abicht A.
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain 2006, 129:2784-2793
Abstract

Mittelbronn M, Hanisch F, Gleichmann M, Stötter M, Korinthenberg R, Wehnert M, Bonne G, Rudnik-Schöneborn S, Bornemann A.
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). Brain Pathol 2006, 16:266-272
Abstract

Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG.
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscul Disord 2006, 16:541-547
Abstract

Hoffmann K, Müller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C,
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 2006, 79:303-312
Abstract Mundlos S.

Müller JS, Piko H, Schoser BGH, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. Neuromuscul Disord 2006, 16:432-436
Abstract

Holt I, Nguyen TM, Wehnert M, Morris GE.
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. Neuromuscul Disord 2006, 16:368-373
Abstract

Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R.
Different early pathogenesis in myotilinopathy compared to primary desminopathy. Neuromuscul Disord 2006, 16:361-367
Abstract

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R.
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006, 119:422-428
Abstract

Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Müller CR, Treves S.
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochem J 2006, 395:259-266
Abstract

Yeung D, Zablocki K, Lien CF, Jiang T, Arkle S, Brutkowski W, Brown J, Lochmüller H, Simon J, Barnard EA, Górecki DC.
Increased susceptibility to ATP via alteration of P2X receptor function in dystrophic mdx mouse muscle cells. FASEB J 2006, 20:610-620
Abstract

Sponholz S, von der Hagen M, Hahn G, Seifert J, Richard P, Stoltenburg-Didinger G, Ferreiro A, Kaindl AM.
Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine. J Child Neurol 2006, 21:316-320
Abstract

Thirion C, Lochmüller H, Ruzsics Z, Boelhauve M, König C, Thedieck C, Kutik S, Geiger C, Kochanek S, Volpers C, Burgert HG.
Adenovirus vectors based on human adenovirus type 19a have high potential for human muscle-directed gene therapy. Hum Gene Ther 2006, 17:193-205
Abstract

Schroers A, Kley RA, Stachon A, Horvath R, Lochmüller H, Zange J, Vorgerd M.
Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 2006, 66:285-286
Abstract

Horvath R, Schneiderat P, Schoser BGH, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H.
Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006, 66:253-255
Abstract

Zou P, Pinotsis N, Lange S, Song YH, Popov A, Mavridis I, Mayans OM, Gautel M, Wilmanns M.
Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk. Nature 2006, 439:229-233
Abstract

von der Hagen M, Kaindl AM, Koehler K, Mitzscherling P, Häusler HJ, Stoltenburg-Didinger G, Hübner A.
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. Eur J Pediatr 2006, 165:62-63
Abstract

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Hübner A.
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis. Neuromuscul Disord 2006, 16:4-13
Abstract

Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K.
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 2005, 37:1312-1314
Abstract

Horváth R, Schoser BGH, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H.
Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. Neuromuscul Disord 2005, 15:851-857
Abstract

Lavigne MD, Pohlschmidt M, Novo JF, Higgins B, Alakhov V, Lochmuller H, Sakuraba H, Goldspink G, MacDermot K, Górecki DC.
Promoter dependence of plasmid-pluronics targeted alpha galactosidase A expression in skeletal muscle of Fabry mice. Mol Ther 2005, 12:985-990
Abstract

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P.
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005, 37:1207-1209
Abstract

Motsch I, Kaluarachchi M, Emerson LJ, Brown CA, Brown SC, Dabauvalle MC, Ellis JA.
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. Eur J Cell Biol 2005, 84:765-781
Abstract

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Hübner A.
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat 2005, 26:279-280
Abstract

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Hübner A, Lochmüller H, Abicht A.
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology 2005, 65:463-465
Abstract

Vorgerd M, van der Ven PF, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Hübner A.
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005, 77:297-304
Abstract

Clemen CS, Fischer D, Roth U, Simon S, Vicart P, Kato K, Kaminska AM, Vorgerd M, Goldfarb LG, Eymard B, Romero NB, Goudeau B, Eggermann T, Zerres K, Noegel AA, Schröder R.
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Lett 2005, 579:3777-3782
Abstract

Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Müller CR, Lochmüller H, Schreiber H.
Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myol 2005, 24:6-16
Abstract

Libotte T, Zaim H, Abraham S, Padmakumar VC, Schneider M, Lu W, Munck M, Hutchison C, Wehnert M, Fahrenkrog B, Sauder U, Aebi U, Noegel AA, Karakesisoglou I.
Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope. Mol Biol Cell 2005, 16:3411-3424
Abstract

Korinthenberg R, Schessl J, Kirschner J, Mönting JS.
Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial. Pediatrics 2005, 116:8-14
Abstract

Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edström L, Ehler E, Udd B, Gautel M.
The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005, 308:1599-1603
Abstract

Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G.
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet 2005, 14:1489-1502
Abstract

Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schröder R.
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum Mol Genet 2005, 14:1251-1260
Abstract

Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R.
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005, 252:538-547
Abstract

Emmrich P, Ogunlade V, Gradistanac T, Daneschnejad S, Koch MC, Schober R.
Facioscapulohumeral muscle dystrophy and heart disease. Z Kardiol 2005, 94:348-354
Abstract

Schoser BGH, Frosk P, Engel AG, Klutzny U, Lochmüller H, Wrogemann K.
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol 2005, 57:591-595
Abstract

Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain 2005, 128:732-742
Abstract

Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmüller H.
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp Cell Res 2005, 304:365-379
Abstract

Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, Argov Z, Lochmuller H, Reutter W, Dabby R, Sadeh M, Ben-Bassat H, Mitrani-Rosenbaum S.
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun 2005, 328:221-226
Abstract

Fischer S, Drenckhahn C, Wolf C, Eschrich K, Kellermann S, Froster UG, Schober R.
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. Clin Neuropathol 2005, 24:77-85
Abstract

Gareiss M, Eberhardt K, Krüger E, Kandert S, Böhm C, Zentgraf H, Müller CR, Dabauvalle MC.
Emerin expression in early development of Xenopus laevis. Eur J Cell Biol 2005, 84:295-309
Abstract

Gräter F, Shen J, Jiang H, Gautel M, Grubmüller H.
Mechanically induced titin kinase activation studied by force-probe molecular dynamics simulations. Biophys J 2005, 88:790-804
Abstract

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG.
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A 2005, 132:296-301
Abstract

Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S.
Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family. Clin Neurosci 2005, 58:52-58
Abstract

Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bönnemann CG, Korinthenberg R.
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 2005, 57:148-151
Abstract

Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S.
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol Chem 2005, 386:61-67
Abstract

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat 2005, 25:38-44
Abstract

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan , Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M.
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. J Inherit Metab Dis 2005, 28:479-492
Abstract

Endesfelder S, Kliche A, Lochmüller H, von Moers A, Speer A.
Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts. J Mol Med 2005, 83:64-71
Abstract

Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H.
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2005, 15:40-44
Abstract

Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S.
Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 2005, 26:66-72
Abstract

Haworth RS, Cuello F, Herron TJ, Franzen G, Kentish JC, Gautel M, Avkiran M.
Protein kinase D is a novel mediator of cardiac troponin I phosphorylation and regulates myofilament function. Circ Res 2004, 95:1091-1099
Abstract

Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K.
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004, 56:738-741
Abstract

Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Hübner A.
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004, 41:842-848
Abstract

Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H.
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord 2004, 14:744-749
Abstract

Muntoni F, Voit T.
The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004, 14:635-649
Abstract

Ohtsuka-Tsurumi E, Saito Y, Yamamoto T, Voit T, Kobayashi M, Osawa M.
Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system. Brain Res Dev Brain Res 2004, 152:121-127
Abstract

Molnar MJ, Gilbert R, Lu Y, Liu AB, Guo A, Larochelle N, Orlopp K, Lochmuller H, Petrof BJ, Nalbantoglu J, Karpati G.
Factors influencing the efficacy, longevity, and safety of electroporation-assisted plasmid-based gene transfer into mouse muscles. Mol Ther 2004, 10:447-455
Abstract

Schoser BGH, Kress W, Walter MC, Halliger-Keller B, Lochmüller H, Ricker K.
Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain 2004, 127:1868-1877
Abstract

Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton Jones D, Voit T, Bushby K, Muntoni F.
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. Neuropediatrics 2004, 35:224-229
Abstract

Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H, Gooding R, Kalaydjieva L.
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 2004, 111:1415-1423
Abstract

Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ.
Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 2004, 350:2682-2688
Abstract

Horváth R, Lochmüller H, Hoeltzenbein M, Müller-Höcker J, Schoser BGH, Pongratz D, Jaksch M.
Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. J Med Genet 2004, 41:e75
Abstract

Kroos MA, Kirschner J, Gellerich FN, Hermans MM, Van Der Ploeg AT, Reuser AJ, Korinthenberg R.
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. Neuromuscul Disord 2004, 14:371-374
Abstract

Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Hübner A, Lochmüller H, Abicht A.
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 2004, 35:183-189
Abstract

Walter MC, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen JT, Hübner A, Lochmüller H.
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. Acta Myol 2004, 23:1-5
Abstract

Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F.
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004, 41:e61
Abstract

Schara U, Tücke J, Mortier W, Nüsslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schröder R.
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur J Pediatr 2004, 163:218-222
Abstract

Walter MC, Petersen JA, Stucka R, Fischer D, Schröder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebner A, Barisic N, Horvath R, Komoly S, Reilich P, Müller-Felber W, Pongratz D, Müller JS, Auerswald EA, Lochmüller H.
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 2004, 41:e50
Abstract

Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC.
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. BMC Cell Biol 2004, 5:12
Abstract

Dohna-Schwake C, Ragette R, Mellies U, Straub V, Teschler H, Voit T.
Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. Neurology 2004, 62:513-514
Abstract

Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F.
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol 2004, 164:727-737
Abstract

Kirschner J, Bönnemann CG.
The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries. Arch Neurol 2004, 61:189-199
Abstract

Schoser BGH, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmüller H, Ricker K.
Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 2004, 29:275-281
Abstract

Quinlivan RM, Müller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA.
Central core disease: clinical, pathological, and genetic features. Arch Dis Child 2003, 88:1051-1055
Abstract

Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Hübner A, Lochmüller H.
Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol 2003, 250:1431-1438
Abstract

Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G.
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. Exp Cell Res 2003, 291:122-134
Abstract

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003, 12:2853-2861
Abstract

Wiendl H, Mitsdoerffer M, Schneider D, Chen L, Lochmüller H, Melms A, Weller M.
Human muscle cells express a B7-related molecule, B7-H1, with strong negative immune regulatory potential: a novel mechanism of counterbalancing the immune attack in idiopathic inflammatory myopathies. FASEB J 2003, 17:1892-1894
Abstract

Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmüller H, Müller CR.
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. J Med Genet 2003, 40:e115
Abstract

Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BGH, Pongratz D, Auer DP, Jaksch M.
A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. J Med Genet 2003, 40:752-757
Abstract

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guergueltcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 2003, 35:185-189
Abstract

Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P.
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul Disord 2003, 13:579-588
Abstract

Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.
Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol 2003, 250:932-937
Abstract

Bonne G, Yaou RB, Béroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M.
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003, 13:508-515
Abstract

Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H.
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clin Biochem 2003, 36:339-344
Abstract

Dunant P, Larochelle N, Thirion C, Stucka R, Ursu D, Petrof BJ, Wolf E, Lochmüller H.
Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice. Mol Ther 2003, 8:80-89
Abstract

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Hübner A, Merlini L, Lochmüller H, Abicht A.
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003, 60:1805-1810
Abstract

Endesfelder S, Bucher S, Kliche A, Reszka R, Speer A.
Transfection of normal primary human skeletal myoblasts with p21 and p57 antisense oligonucleotides to improve their proliferation: a first step towards an alternative molecular therapy approach of Duchenne muscular dystrophy. J Mol Med 2003, 81:355-362
Abstract

Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, von Moers A.
MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding. AJNR Am J Neuroradiol 2003, 24:825-828
Abstract

Wiendl H, Mitsdoerffer M, Schneider D, Melms A, Lochmüller H, Hohlfeld R, Weller M.
Muscle fibres and cultured muscle cells express the B7.1/2-related inducible co-stimulatory molecule, ICOSL: implications for the pathogenesis of inflammatory myopathies. Brain 2003, 126:1026-1035
Abstract

Wiendl H, Lautwein A, Mitsdörffer M, Krause S, Erfurth S, Wienhold W, Morgalla M, Weber E, Overkleeft HS, Lochmüller H, Melms A, Tolosa E, Driessen C.
Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies. J Neuroimmunol 2003, 138:132-143
Abstract

Dunant P, Walter MC, Karpati G, Lochmüller H.
Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003, 27:624-627
Abstract

Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P.
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003, 12:657-669
Abstract

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 2003, 12:527-534
Abstract

Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Hübner A, Lochmüller H.
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord 2003, 13:245-251
Abstract

Volpers C, Thirion C, Biermann V, Hussmann S, Kewes H, Dunant P, von der Mark H, Herrmann A, Kochanek S, Lochmüller H.
Antibody-mediated targeting of an adenovirus vector modified to contain a synthetic immunoglobulin g-binding domain in the capsid. J Virol 2003, 77:2093-2104
Abstract

Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller-Reible CR, Laing NG.
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord 2003, 13:151-157
Abstract

Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schröder R, Lappalainen P, Fürst DO, Carpén O.
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 2003, 12:189-203
Abstract

Wiendl H, Mitsdoerffer M, Hofmeister V, Wischhusen J, Weiss EH, Dichgans J, Lochmüller H, Hohlfeld R, Melms A, Weller M.
The non-classical MHC molecule HLA-G protects human muscle cells from immune-mediated lysis: implications for myoblast transplantation and gene therapy. Brain 2003, 126:176-185
Abstract

Favreau C, Dubosclard E, Ostlund C, Vigouroux C, Capeau J, Wehnert M, Higuet D, Worman HJ, Courvalin JC, Buendia B.
Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy. Exp Cell Res 2003, 282:14-23
Abstract