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Late-onset PEO and proximal myopathy in a patient with mutations in POLG2 (J Neurol 2010;257:1517-1523.)
Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart J, Hudson G, Schneiderat P, Abicht A, Lochmüller H, Chinnery PF, Klopstock T, Horvath R.
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Divergent effects of pathogenic mutations in primary desminopathy on oligomer assembly and multimerization of desmin revealed by single particle spectroscopy. (JNEN 2010;69:415-424.)
Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H.
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Long-term efficiency of intravenously administered immunoglobulin in anti-Yo-syndrome with paraneoplastic cerebellar degeneration (J Neurol. 2010 Dec 21. [Epub ahead of print])
Schessl J, Schuberth M, Reilich P, Schneiderat P, Strigl-Pill N, Walter MC, Schlotter-Weigel B, Schoser B.
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Laminopathy presenting as familial atrial fibrillation (Int J Cardiol. 2010 Nov 19;145(2):394-6. Epub 2010 May 15.)
Beckmann BM, Holinski-Feder E, Walter MC, Haserück N, Reithmann C, Hinterseer M, Wilde AA, Kääb S.
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Polymerase y gene POLG determines the risk of sodium valproate-induced liver toxicity. (Hepatology. 2010 Nov;52(5):1791-6.)
Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF.
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Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial. (Lancet Neurol. 2010 Nov;9(11):1053-9. Epub 2010 Aug 26.)
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.
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Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy (J Neurol. 2010 Jul;257(7):1108-18. Epub 2010 Feb 10.)
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.
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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. Epub 2010 May 20.)
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.
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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. Epub 2010 Mar 22.)
Spengos K, Walter MC, Dekomien G, Papadopoulos K, Lochmüller H, Manta P.
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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. Epub 2010 Mar 25.)
Stober A, Aleo A, Kuhl V, Bornemann A, Walter MC, Lochmüller H, Lindner A, Krause S.
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Reverse protein arrays as novel approach for protein quantification in muscular dystrophies. (Neuromuscul Disord. 2010 May;20(5):302-9. Epub 2010 Mar 20.)
Escher C, Lochmüller H, Fischer D, Frank S, Reimann J, Walter MC, Ehrat M, Ruegg MA, Gygax D.
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Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. (J Neuropathol Exp Neurol. 2010 Apr;69(4):415-24.)
Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H.
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The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy (Neuromuscul Disord. 2010 Apr;20(4):255-9. Epub 2010 Feb 19.)
Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H.
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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. Epub 2010 Jun 22.)
Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel HH, Bönnemann CG.
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