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Medizinische Genetik, 2009 Sep; Volume 21, Number 3 / September 2009
Kongenitale Strukturmyopathien.
Lutz S, Stiegler B, Kress W, von der Hagen M, Schara U.
Abstract

Medizinische Genetik, 2009 Sep; Volume 21, Number 3 / September 2009
Muskeldystrophien Duchenne und Becker - Molekulargenetische Diagnostik und genetisches Model.
Grimm T, Kress W Meng G, Müller-Reible CR.
Abstract

Medizinische Genetik, 2009 Sep; Volume 21, Number 3 / September 2009
Myotone Dystrophien – und ihre Differenzialdiagnosen.
Schoser B, Grimm T.
Abstract

Hum Mutat. 2009 Sep;30(9):E831-44.
Intragenic Deletion of TRIM32 in Compound Heterozygotes with Sarcotubular Myopathy/LGMD2H.
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.
Abstract

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

Proc Natl Acad Sci U S A. 2009 May 5;106(18):7479-84. Epub 2009 Apr 21.
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity.
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.
Abstract

Brain 2009;132:452-464.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
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.
Abstract

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

Hum Gene Ther. 2009 Jun;20(6):641-50
Efficient and Fast Functional Screening of Microdystrophin Constructs In Vivo and In Vitro for Therapy of Duchenne Muscular Dystrophy.
Jøergensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RWR, Stucka R, Thirion Ch, Walter MC, Laval SH, Lochmüller H.
Abstract

Hum Mutat. 2009 Mar;30(3):E490-9.
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R.
Abstract

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

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

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

2008

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

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

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

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

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

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

Neuromuscul Disord 2008, 18:475-482
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
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.
Abstract

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

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

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

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

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

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

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

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

J Clin Invest 2008, 118:904-912
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
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.
Abstract

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

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

FASEB J 2008, 22:1521-1529
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.
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.
Abstract

2007

Brain 2007, 130:3250-3264
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
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.
Abstract

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

Hum Mol Genet 2007, 16:2944-2959
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
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.
Abstract

Hum Mol Genet 2007, 16:2816-2833
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
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.
Abstract

Neurogenetics 2007, 8:279-288
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
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.
Abstract

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

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

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

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

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

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

Brain 2007, 130:2037-2044
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
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.
Abstract

Brain 2007, 130:1485-1496
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
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.
Abstract

Brain 2007, 130:1497-1506
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
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.
Abstract

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

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

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

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

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

Brain 2007, 130:381-393
Pathological consequences of VCP mutations on human striated muscle.
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.
Abstract

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

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

2006

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

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

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

Neuromuscul Disord 2006, 16:541-547
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
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.
Abstract

Am J Hum Genet 2006, 79:303-312
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
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.
Abstract Mundlos S.

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

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

Neuromuscul Disord 2006, 16:361-367
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
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.
Abstract

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

Biochem J 2006, 395:259-266
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.
Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Müller CR, Treves S.
Abstract

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

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

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

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

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

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

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

Neuromuscul Disord 2006, 16:4-13
Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.
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.
Abstract

2005

Nat Genet 2005, 37:1312-1314
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
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.
Abstract

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

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

Nat Genet 2005, 37:1207-1209
Mutations in dynamin 2 cause dominant centronuclear myopathy.
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.
Abstract

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

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

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

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

FEBS Lett 2005, 579:3777-3782
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.
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.
Abstract

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

Mol Biol Cell 2005, 16:3411-3424
Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope.
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.
Abstract

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

Science 2005, 308:1599-1603
The kinase domain of titin controls muscle gene expression and protein turnover.
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.
Abstract

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

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

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

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

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

Brain 2005, 128:732-742
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
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.
Abstract

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

Biochem Biophys Res Commun 2005, 328:221-226
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
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.
Abstract

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

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

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

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

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

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

Biol Chem 2005, 386:61-67
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
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.
Abstract

Hum Mutat 2005, 25:38-44
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.
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.
Abstract

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

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

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

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

2004

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

Ann Neurol 2004, 56:738-741
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
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.
Abstract

J Med Genet 2004, 41:842-848
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
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.
Abstract

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

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

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

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

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

Neuropediatrics 2004, 35:224-229
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
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.
Abstract

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

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

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

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

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

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

J Med Genet 2004, 41:e61
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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.
Abstract

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

J Med Genet 2004, 41:e50
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
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.
Abstract

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

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

Am J Pathol 2004, 164:727-737
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
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.
Abstract

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

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

2003

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

J Neurol 2003, 250:1431-1438
Variable reduction of caveolin-3 in patients with LGMD2B/MM.
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.
Abstract

Exp Cell Res 2003, 291:122-134
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.
Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G.
Abstract

Hum Mol Genet 2003, 12:2853-2861
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.
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.
Abstract

FASEB J 2003, 17:1892-1894
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.
Wiendl H, Mitsdoerffer M, Schneider D, Chen L, Lochmüller H, Melms A, Weller M.
Abstract

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

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

Nat Genet 2003, 35:185-189
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
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.
Abstract

Neuromuscul Disord 2003, 13:579-588
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).
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.
Abstract

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

Neuromuscul Disord 2003, 13:508-515
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.
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.
Abstract

Clin Biochem 2003, 36:339-344
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
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.
Abstract

Mol Ther 2003, 8:80-89
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.
Dunant P, Larochelle N, Thirion C, Stucka R, Ursu D, Petrof BJ, Wolf E, Lochmüller H.
Abstract

Neurology 2003, 60:1805-1810
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
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.
Abstract

J Mol Med 2003, 81:355-362
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.
Endesfelder S, Bucher S, Kliche A, Reszka R, Speer A.
Abstract

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

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

J Neuroimmunol 2003, 138:132-143
Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies.
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.
Abstract

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

Hum Mol Genet 2003, 12:657-669
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
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.
Abstract

Hum Mol Genet 2003, 12:527-534
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
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.
Abstract

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

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

Neuromuscul Disord 2003, 13:151-157
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
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.
Abstract

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

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

Exp Cell Res 2003, 282:14-23
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.
Favreau C, Dubosclard E, Ostlund C, Vigouroux C, Capeau J, Wehnert M, Higuet D, Worman HJ, Courvalin JC, Buendia B.
Abstract