Publikationen 2010
- 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.
- 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.
- 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.
- 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.
- 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.
- Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel HH, Bönnemann CG. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. Neuropediatrics. 2010 Feb;41(1):43–6.
- 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):e41–42.
- Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF. Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology. 2010 Nov;52(5):1791–6.
- 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.
- 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):1517–23.
- Zhang F, Seeman P, Liu P, Weterman MAJ, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause K-H, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11;86(6):892–903.
