Wissenschaftliche Publikationen

2011

__________________________________________________________

Guergueltcheva, V., K. Peeters, J. Baets, C. Ceuterick-de Groote, J.-J. R Martin, A. Suls, E. De Vriendt, V. Mihaylova, T. Chamova, L. Almeida-Souza, E. Ydens, C. Tzekov, G. Hadjidekov, M. Gospodinova, K. Storm, E. Reyniers, S. Bichev, P. F. M. van der Ven, D. O. Fürst, V. Mitev, H. Lochmüller, V. Timmerman, I. Tournev, P. De Jonghe und A. Jordanova (2011). Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology, in press.

__________________________________________________________

Schessl J, Kress W, Schoser B. Novel ANO5 mutations causing hyperCKemia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy LGMD2L. Muscle&Nerve, 2011 submitted

__________________________________________________________

Sarkozy A, Deschauer M, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Radunovic A, Schreiber H, Vaidya SS, Gläser D, Bushby K, Lochmüller H, Straub V. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscl disord, 2011 submitted

__________________________________________________________

Klymiuk N, Thirion C, Burkhardt K, Wuensch A, Krause S, Krebs S, Graf A, Kessler B, Zakhartchenko V, Kurome M, Nagashima H, Schoser B, Herbach N, Blitke A, Blum H, Wanke R, Lochmüller H, Walter MC, Wolf E. Targeted deletion of DMD exon 52 in the pig results in biochemical and clinical hallmarks of Duchenne muscular dystrophy. Sci Trans Med 2011 submitted.

__________________________________________________________

Schessl J, Feldkirchner S, Kubny C, Schoser B. Reducing body myopathy and other FHL1 related muscular disorders. Sem Child Neurol 2011 in press

__________________________________________________________

Guergueltcheva V, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Urtizberea A, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H, Müller JS. Delineation of the clinical phenotype of congenital myasthenia associated with GFPT1 mutations. J Neurol 2011 in press

__________________________________________________________

Fledrich F, Schlotter-Weigel B, Schnizer T, Wichert S, Stassart RM, Meyer zu Horste G, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Nave KA, Rossner M, Sereda MW. A rat model of Charcot Marie Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain 2011, accepted.

__________________________________________________________

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, Macmillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol 2011 May 5. [Epub ahead of print]

__________________________________________________________

Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.

Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Hum Mutat 2011 Jan 25. [Epub ahead of print]

__________________________________________________________

Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 2011 Aug 7. [Epub ahead of print]

___________________________________________________________

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011 Aug;258(8):1437-44

___________________________________________________________

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord 2011 Aug;21(8):556-62.

__________________________________________________________

Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, Huebner A, Lee-Kirsch MA; Wolfram Syndrome Diabetes Writing Group. Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care. 2011 Jul;34(7):1503-10.

__________________________________________________________

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011 Jun 10;88(6):729-40.

__________________________________________________________

Moschos MM, Margetis I, Koehler K, Gatzioufas Z, Huebner A. New ophthalmic features in a family with triple A syndrome. Int Ophthalmol. 2011 Jun;31(3):239-43.

__________________________________________________________

Scott AP, Laing NG, Mastaglia F, Needham M, Walter MC, Dalakas MC, Allcock RJ. Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex. J Neuroimmunol 2011 Jun;235(1-2):77-83.

___________________________________________________________

Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med 2011 Jun;17(6):720-5.

__________________________________________________________

Goebel HH, Bönnemann CG; Rare Structural Myopathy Consortium. 169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands. Neuromuscul Disord. 2011 May;21(5):363-74.

___________________________________________________________

Wengert O, Meisel A, Kress W, Dekomien G, Angstwurm K, Heppner FL, Goebel HH, Stenzel W. Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy. J Neurol 2011 May;258(5):915-7.

___________________________________________________________

Schessl J, Schuberth M, Reilich P, Schneiderat P, Strigl-Pill N, Walter MC, Schlotter-Weigel B, Schoser B. Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration. J Neurol 2011 May;258(5):946-7.

___________________________________________________________

__________________________________________________________

Dumić M, Barišić N, Rojnić-Putarek N, Kušec V, Stanimirović A, Koehler K, Huebner A. Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr. 2011 Mar;170(3):393-6.

___________________________________________________________

Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011 Feb 11;88(2):162-72.

__________________________________________________________

Schara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmüller H, Czermin B, Abicht A, Holinski-Feder E, Horvath R. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. J Inherit Metab Dis 2011 Feb;34(1):197-201.

__________________________________________________________

Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A 2011 Jan 4;108(1):260-5.

__________________________________________________________

Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R.

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011 Jan;134(Pt 1):183-95.

__________________________________________________________

Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011 Jan;134(Pt 1):171-82.

___________________________________________________________

Kirschner J, Lochmüller H. Sarcoglycanopathies. Handb Clin Neurol 2011;101:41-6.

2010

van der Ven PF, Odgerel Z, Fürst DO, Goldfarb LG, Kono S, Miyajima H. Dominant-negative effects of a novel mutation in the filamin myopathy. Neurology 2010 Dec 7;75(23):2137-8.

__________________________________________________________

Beckmann BM, Holinski-Feder E, Walter MC, Haserück N, Reithmann C, Hinterseer M, Wilde AA, Kääb S. Laminopathy presenting as familial atrial fibrillation. Int J Cardiol 2010 Nov 19;145(2):394-6.

___________________________________________________________

Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010 Nov;68(5):717-26.

___________________________________________________________

Kirschner J, Ihorst G, Korinthenberg R. Measuring muscle strength in clinical trials — Authors' reply. Lancet Neurol. 2010 Nov;9(12):1146-47.

___________________________________________________________

MD-NET (Hrsg.) Patientenratgeber des MD-NET: Diagnose und Behandlung der Muskeldystrophie Duchenne - Ratgeber für Familien. 2010 Nov.

___________________________________________________________

Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, von der Hagen M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R. Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial. Lancet Neurol 2010 Nov;9(11):1053-9.

___________________________________________________________

Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010 Oct;20(10):2447-60.

___________________________________________________________

Odgerel Z, van der Ven PF, Fürst DO, Goldfarb LG. DNA sequencing errors in molecular diagnostics of filamin myopathy. Clin Chem Lab Med 2010 Oct;48(10):1409-1

___________________________________________________________

Glahn KP, Ellis FR, Halsall PJ, Müller CR, Snoeck MM, Urwyler A, Wappler F; European Malignant Hyperthermia Group. Recognizing and managing a malignant hyperthermia crisis: guidelines from the European Malignant Hyperthermia Group. Br J Anaesth 2010 Oct;105(4):417-20.

___________________________________________________________

Huichalaf C, Sakai K, Jin B, Jones K, Wang GL, Schoser B, Schneider-Gold C, Sarkar P, Pereira-Smith OM, Timchenko N, Timchenko L. Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. FASEB J 2010 Oct;24(10):3706-19.

___________________________________________________________

Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H. Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry 2010 Sep;81(9):973-7.

___________________________________________________________

Linnemann A, van der Ven PF, Vakeel P, Albinus B, Simonis D, Bendas G, Schenk JA, Micheel B, Kley RA, Fürst DO. The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. Eur J Cell Biol 2010 Sep;89(9):681-92.

___________________________________________________________

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 2010 Sep;257(9):1517-

___________________________________________________________

Vukcevic M, Broman M, Islander G, Bodelsson M, Ranklev-Twetman E, Müller CR, Treves S. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg 2010 Jul;111(1):185-90.

___________________________________________________________

Brauers E, Dreier A, Roos A, Wormland B, Weis J, Krüttgen A. Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. Am J Pathol 2010 Jul;177(1):261-70.

___________________________________________________________

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC. Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol 2010 Jul;257(7):1108-18.

___________________________________________________________

Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR. Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord 2010 Jun;20(6):422-7.

___________________________________________________________

Spengos K, Walter MC, Dekomien G, Papadopoulos K, Lochmüller H, Manta P. C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. Eur J Neurol 2010 Jun 1;17(6):e41-2.

___________________________________________________________

Kottlors M, Kirschner J. Elevated satellite cell number in Duchenne muscular dystrophy. Cell Tissue Res 2010 Jun;340(3):541-8.

___________________________________________________________

Escher C, Lochmüller H, Fischer D, Frank S, Reimann J, Walter MC, Ehrat M, Ruegg MA, Gygax D. Reverse protein arrays as novel approach for protein quantification in muscular dystrophies. Neuromuscul Disord 2010 May;20(5):302-9.

___________________________________________________________

Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S. Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. Neuromuscul Disord 2010 May;20(5):335-6.

___________________________________________________________

Kiphuth IC, Krause S, Huttner HB, Dekomien G, Struffert T, Schröder R. Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation. J Neurol 2010 Apr;257(4):658-60.

___________________________________________________________

Strucksberg KH, Tangavelou K, Schröder R, Clemen CS. Proteasomal activity in skeletal muscle: a matter of assay design, muscle type, and age. Anal Biochem 2010 Apr;399(2):225-9.

__________________________________________________________

Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H. Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. J Neuropathol Exp Neurol 2010 Apr;69(4):415-24

___________________________________________________________

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord 2010 Apr;20(4):255-9

___________________________________________________________

Schmidt WM, Uddin MH, Dysek S, Moser-Thier K, Pirker C, Höger H, Ambros IM, Ambros PF, Berger W, Bittner RE. DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. PLoS Genet. 2011 Apr;7(4):e1002042. Epub 2011 Apr 14.

___________________________________________________________

Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J. Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. J Neurol Sci 2010 Apr 15;291(1-2):79-85.

___________________________________________________________

Larochelle N, Stucka R, Rieger N, Schermelleh L, Schiedner G, Kochanek S, Wolf E, Lochmüller H. Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes. Transgenic Res 2011 Feb;20(1):123-35.

___________________________________________________________

Huttner HB, Richter G, Jünemann A, Kress W, Weis J, Schröder JM, Gal A, Doerfler A, Udd B, Schröder R. Incontinetia pigmenti-related myopathy or unsolved "double trouble"? Neuromuscul Disord. 2010 Feb;20(2):139-41.

___________________________________________________________

Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Hornsey M, Straub V, Barresi R, Lochmüller H, Bushby K. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve 2010 Feb;41(2):166-73.

___________________________________________________________

Bauer R , Blain A, Greally E, Lochmüller H , Bushby K , MacGowan GA, Straub V. Attenuation of adverse cardiac effects in prednisolone-treated d-sarcoglycan-deﬁcient mice by mineralocorticoid-receptor-antagonism. Neuromuscul Disord 2010 Jan;20(1):21-8.

2009

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 Dec;19(12):828-32.

___________________________________________________________

Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, 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 A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, 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 Nov;132(Pt 11):3165-74.

___________________________________________________________

Bushby K, Lochmüller H, Lynn S, Straub V. Interventions for muscular dystrophy: molecular medicines entering the clinic. Lancet 2009 Nov 28;374(9704):1849-56.

___________________________________________________________

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 Nov;19(11):766-72.

___________________________________________________________

Becher UM, Breitbach M, Sasse P, Garbe S, van der Ven PF, Fürst DO, Fleischmann BK. Enrichment and terminal differentiation of striated muscle progenitors in vitro. Exp Cell Res 2009 Oct 1;315(16):2741-51.

___________________________________________________________

Grimm T, Kress W, Rudnik-Schöneborn S, Zerres K. Neuromuskuläre Krankheiten - Eine immerwährende Herausforderung für den Humangenetiker. medgen 2009 Sep;21(3):313-315.

___________________________________________________________

Lutz S, Stiegler B, Kress W, von der Hagen M, Schara U. Kongenitale Strukturmyopathien. medgen 2009 Sep;21(3):316–321.

___________________________________________________________

Grimm T, Kress W Meng G, Müller-Reible CR. Muskeldystrophien Duchenne und Becker - Molekulargenetische Diagnostik und genetisches Model. medgen 2009 Sep;21(3):327-331.

___________________________________________________________

Schoser B, Grimm T. Myotone Dystrophien – und ihre Differenzialdiagnosen. medgen 2009 Sep;21(3):381-392.

___________________________________________________________

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen M, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B. Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat 2009 Sep;30(9):E831-44.

___________________________________________________________

Schoser B, 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 Aug 18;73(7):543-51.

___________________________________________________________

Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko NA, Timchenko LT. Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol 2009 Aug;175(2):748-62.

___________________________________________________________

Huichalaf C, Schoser B, Schneider-Gold C, Jin B, Sarkar P, Timchenko L. Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J Neurosci 2009 Jul 15;29(28):9042-9.

___________________________________________________________

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(3):161-6.

___________________________________________________________

Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, 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 Jul;19(7):481-4.

___________________________________________________________

Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 2009 Jul;19(3):483-92.

___________________________________________________________

Goehringer C, Rutschow D, Bauer R, Schinkel S, Weichenhan D, Bekeredjian R, Straub V, Kleinschmidt JA, Katus HA, Müller OJ. Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res 2009 Jun 1;82(3):404-10.

___________________________________________________________

Jørgensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RW, Stucka R, Thirion C, 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 Jun;20(6):641-50.

___________________________________________________________

Amthor H, Otto A, Vulin A, Rochat A, Dumonceaux J, Garcia L, Mouisel E, Hourdé C, 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. Proc Natl Acad Sci U S A 2009 May 5;106(18):7479-84.

___________________________________________________________

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 muscular immune responses. J Neuroimmunol 2009 Apr 30;209(1-2):131-8.

___________________________________________________________

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

___________________________________________________________

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, Scavina 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 Feb;132(Pt 2):452-64.

___________________________________________________________

Baumeister SK, Todorovic S, Milić-Rasić V, Dekomien G, Lochmüller H, Walter MC. Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. Neuromuscul Disord 2009 Feb;19(2):167-71.

___________________________________________________________

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 KM. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009 Jan;132(Pt 1):147-55.

2008

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 Nov;58(11):3600-8.

___________________________________________________________

Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe Disease. Neurotherapeutics 2008 Oct;5(4):569-78.

___________________________________________________________

Schara U, Lochmüller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 2008 Oct;5(4):542-7.

___________________________________________________________

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 Oct;27:54-8.

___________________________________________________________

Schwab N, Waschbisch A, Wrobel B, Lochmüller H, Sommer C, Wiendl H. Human myoblasts modulate the function of antigen-presenting cells. J Neuroimmunol 2008 Aug 30;200(1-2):62-70.

___________________________________________________________

Müller OJ, Lochmüller H. Sarcoglycans take center stage in gene transfer therapy. Neurology 2008 Jul 22;71(4):234-5.

___________________________________________________________

Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 2008 Jun;18(6):475-82.

___________________________________________________________

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain 2008 Jun;131(Pt 6):1551-61.

___________________________________________________________

Krüger J, Kunert-Keil C, Bisping F, Brinkmeier H. Transient receptor potential cation channels in normal and dystrophic mdx muscle. Neuromuscul Disord 2008 Jun;18(6):501-13.

___________________________________________________________

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 epsilon-sarcoglycan gene mutations. Eur J Neurol 2008 May;15(5):525-9.

___________________________________________________________

Benayoun B, Baghdiguian S, Lajmanovich A, Bartoli M, Daniele N, Gicquel E, Bourg N, Raynaud F, Pasquier MA, Suel L, Lochmuller H, Lefranc G, Richard I. NF-kappaB-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 May;22(5):1521-9.

___________________________________________________________

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 Apr;18(4):288-90.

___________________________________________________________

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 Apr;255(4):609-11.

___________________________________________________________

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 Mar;131(Pt 3):747-59.

___________________________________________________________

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 Mar;128(3):568-74.

___________________________________________________________

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 Mar;118(3):904-12.

___________________________________________________________

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 Jan;82(1):88-99.

___________________________________________________________

Meyer T, Jurkat-Rott K, Huebner 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 Jan;37(1):120-4.

2007

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner 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 Dec;130(Pt 12):3250-64.

___________________________________________________________

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 Dec;130(Pt 12):3237-49.

___________________________________________________________

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 Dec 1;16(23):2944-59.

___________________________________________________________

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 Dec 1;16(23):2816-33.

___________________________________________________________

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 Nov;8(4):279-88.

___________________________________________________________

Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007 Oct;17(9-10):698-706.

___________________________________________________________

Schoser BG, 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 Oct;33(5):544-59.

___________________________________________________________

Krause S, Göhringer T, Walter MC, Schoser BG, 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 Sep-Oct;26(5):232-40.

___________________________________________________________

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 Aug 14;69(7):655-9.

___________________________________________________________

Müller JS, Mihaylova V, Abicht A, Lochmüller H. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med 2007 Aug 9;9(22):1-20.

___________________________________________________________

Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, 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 Aug;130(Pt 8):2037-44.

___________________________________________________________

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, 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 Jun;130(Pt 6):1485-96.

___________________________________________________________

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, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007 Jun;130(Pt 6):1497-506.

___________________________________________________________

Löwe T, Kley RA, van der Ven PF, Himmel M, Huebner 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 Jun 1;16(11):1351-8.

___________________________________________________________

Schröder R, Vrabie A, Goebel HH. Primary desminopathies. J Cell Mol Med 2007 May-Jun;11(3):416-26.

___________________________________________________________

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 May;12(3):224-30.

___________________________________________________________

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 Apr;9(4):379-90.

___________________________________________________________

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 Apr;8(2):137-42.

___________________________________________________________

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 Mar 26;176(7):979-93.

___________________________________________________________

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 Mar;80(3):478-84.

___________________________________________________________

Weiss C, Jakubiczka S, Huebner 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 Mar;35(3):396-401.

___________________________________________________________

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 Feb;130(Pt 2):381-93.

___________________________________________________________

Horvath R, Kley RA, Lochmüller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007 Jan 2;68(1):56-8.

2006

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner 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 Oct;129(Pt 10):2784-93.

___________________________________________________________

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 Oct;16(4):266-72.

___________________________________________________________

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 Oct;16(9-10):541-7.

___________________________________________________________

Hoffmann K, Muller 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, Mundlos S. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 2006 Aug;79(2):303-12.

___________________________________________________________

Müller JS, Piko H, Schoser BG, 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 Jul;16(7):432-6.

___________________________________________________________

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 Jun;16(6):368-73.

___________________________________________________________

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 Jun 20;7:159.

___________________________________________________________

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 Jun;16(6):361-7.

___________________________________________________________

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 May;119(4):422-8.

___________________________________________________________

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 Apr 15;395(2):259-66.

___________________________________________________________

Yeung D, Zablocki K, Lien CF, Jiang T, Arkle S, Brutkowski W, Brown J, Lochmuller 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 Apr;20(6):610-20.

___________________________________________________________

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 Apr;21(4):316-20.

___________________________________________________________

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 Feb;17(2):193-205.

___________________________________________________________

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 Jan 24;66(2):285-6.

___________________________________________________________

Horvath R, Schneiderat P, Schoser BG, 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 Jan 24;66(2):253-5.

___________________________________________________________

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 Jan 12;439(7073):229-33.

___________________________________________________________

von der Hagen M, Kaindl AM, Koehler K, Mitzscherling P, Häusler HJ, Stoltenburg-Didinger G, Huebner 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 Jan;165(1):62-3.

___________________________________________________________

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, Huebner A. Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis. Neuromuscul Disord 2006 Jan;16(1):4-13.

2005

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 Dec;37(12):1312-4.

_____________________________________________________

Horváth R, Schoser BG, 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 Dec;15(12):851-7.

___________________________________________________________

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 Nov;12(5):985-90.

___________________________________________________________

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 Nov;37(11):1207-9.

___________________________________________________________

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A. Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat 2005 Sep;26(3):279-80.

___________________________________________________________

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology 2005 Aug 9;65(3):463-5.

___________________________________________________________

Vorgerd M, van der Ven PF, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005 Aug;77(2):297-304.

___________________________________________________________

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 Jul 4;579(17):3777-82.

___________________________________________________________

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 Jul;24(1):6-16.

___________________________________________________________

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 Jul;16(7):3411-24.

___________________________________________________________

Korinthenberg R, Schessl J, Kirschner J, Mönting JS. Intravenously administered immunoglobulin in the treatment of childhood Guillain-Barré syndrome: a randomized trial. Pediatrics 2005 Jul;116(1):8-14.

___________________________________________________________

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 Jun 10;308(5728):1599-603.

___________________________________________________________

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 Jun 1;14(11):1489-502.

___________________________________________________________

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 May 15;14(10):1251-60.

___________________________________________________________

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 May;252(5):538-47.

___________________________________________________________

Emmrich P, Ogunlade V, Gradistanac T, Daneschnejad S, Koch MC, Schober R. Facioscapulohumeral muscle dystrophy and heart disease. Z Kardiol 2005 May;94(5):348-54.

___________________________________________________________

Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmüller H, Wrogemann K. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol 2005 Apr;57(4):591-5.

___________________________________________________________

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 Apr;128(Pt 4):732-42.

___________________________________________________________

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 Apr 1;304(2):365-79.

___________________________________________________________

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 Mar 4;328(1):221-6.

___________________________________________________________

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 Mar-Apr;24(2):77-85.

___________________________________________________________

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 Mar;84(2-3):295-309.

___________________________________________________________

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 Feb;88(2):790-804.

___________________________________________________________

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 Jan 30;132A(3):296-301.

___________________________________________________________

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. Ideggyogy Sz 2005 Jan 20;58(1-2):52-8.

___________________________________________________________

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 Jan;57(1):148-51.

___________________________________________________________

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 Jan;386(1):61-7.

___________________________________________________________

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 Jan;25(1):38-44.

___________________________________________________________

Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 2005 Jan-Feb;26(1):66-72.

___________________________________________________________

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 (Berl) 2005 Jan;83(1):64-71.

___________________________________________________________

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 Jan;15(1):40-4.

2004

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 Nov 26;95(11):1091-9.

___________________________________________________________

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 Nov;56(5):738-41.

___________________________________________________________

Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004 Nov;41(11):842-8.

___________________________________________________________

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 Nov;14(11):744-9.

___________________________________________________________

Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004 Oct;14(10):635-49.

___________________________________________________________

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 Sep 17;152(2):121-7.

___________________________________________________________

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 Sep;10(3):447-55.

___________________________________________________________

Schoser BG, Kress W, Walter MC, Halliger-Keller B, Lochmüller H, Ricker K. Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain 2004 Aug;127(Pt 8):1868-77.

_________________________________________________________

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 Aug;35(4):224-9.

___________________________________________________________

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 Jul;111(7):1415-23.

___________________________________________________________

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 Jun 24;350(26):2682-8.

___________________________________________________________

Horváth R, Lochmüller H, Hoeltzenbein M, Müller-Höcker J, Schoser BG, 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 Jun;41(6):e75.

___________________________________________________________

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 Jun;14(6):371-4.

___________________________________________________________

Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Huebner 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 Jun;35(3):183-9.

___________________________________________________________

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

___________________________________________________________

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 May;41(5):e61.

___________________________________________________________

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 Apr;163(4-5):218-22.

___________________________________________________________

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 Apr;41(4):e50.

___________________________________________________________

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 Mar 30;5:12.

___________________________________________________________

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 Feb 10;62(3):513-4.

___________________________________________________________

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 Feb;164(2):727-37.

___________________________________________________________

Kirschner J, Bönnemann CG. The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries. Arch Neurol 2004 Feb;61(2):189-99.

___________________________________________________________

Schoser BG, 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 Feb;29(2):275-81.

2003

Quinlivan RM, Muller 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 Dec;88(12):1051-5.

___________________________________________________________

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, Huebner A, Lochmüller H. Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol 2003 Dec;250(12):1431-8.

___________________________________________________________

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 Nov 15;291(1):122-34.

___________________________________________________________

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 Nov 1;12(21):2853-61.

___________________________________________________________

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 Oct;17(13):1892-4. Epub 2003 Aug 15.

________________________________________________________

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 Oct;40(10):e115.

___________________________________________________________

Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. J Med Genet 2003 Oct;40(10):752-7.

___________________________________________________________

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, Guerguelcheva 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 Oct;35(2):185-9.

___________________________________________________________

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 Sep;13(7-8):579-88.

___________________________________________________________

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 Aug;250(8):932-7.

___________________________________________________________

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 Aug;13(6):508-15.

___________________________________________________________

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 Jul;36(5):339-44.

___________________________________________________________

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 Jul;8(1):80-9.

___________________________________________________________

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003 Jun 10;60(11):1805-10.

___________________________________________________________

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 May;24(5):825-8.

___________________________________________________________

Wiendl H, Mitsdoerffer M, Schneider D, Melms A, Lochmuller 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 May;126(Pt 5):1026-35.

___________________________________________________________

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 May;138(1-2):132-43.

___________________________________________________________

Dunant P, Walter MC, Karpati G, Lochmüller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003 May;27(5):624-7.

___________________________________________________________

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 Mar 15;12(6):657-69.

___________________________________________________________

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 Mar 1;12(5):527-34.

___________________________________________________________

Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord 2003 Mar;13(3):245-51.

___________________________________________________________

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 Feb;77(3):2093-104.

___________________________________________________________

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 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 Feb;13(2):151-7.

___________________________________________________________

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 Jan 15;12(2):189-203.

___________________________________________________________

Wiendl H, Mitsdoerffer M, Hofmeister V, Wischhusen J, Weiss EH, Dichgans J, Lochmuller 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 Jan;126(Pt 1):176-85.

___________________________________________________________

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 Jan 1;282(1):14-23.