Müller-Höcker J - Search Results

1

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.

Krause S, Schlotter-Weigel B, Walter MC, Najmabadi H, Wiendl H, Müller-Höcker J, Müller-Felber W, Pongratz D, Lochmüller H. Krause S, et al. Neuromuscul Disord. 2003 Dec;13(10):830-4. doi: 10.1016/s0960-8966(03)00140-8. Neuromuscul Disord. 2003. PMID: 14678807

2

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H. Reilich P, et al. Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19. Neuromuscul Disord. 2010. PMID: 20171888

3

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, Huebner A, Lochmüller H. Walter MC, et al. J Neurol. 2003 Dec;250(12):1431-8. doi: 10.1007/s00415-003-0234-x. J Neurol. 2003. PMID: 14673575

4

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

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. Reilich P, et al. J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10. J Neurol. 2010. PMID: 20146070

5

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

Durling HJ, Reilich P, Müller-Höcker J, Mendel B, Pongratz D, Wallgren-Pettersson C, Gunning P, Lochmüller H, Laing NG. Durling HJ, et al. Neuromuscul Disord. 2002 Dec;12(10):947-51. doi: 10.1016/s0960-8966(02)00182-7. Neuromuscul Disord. 2002. PMID: 12467750

6

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.

Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H. Horváth R, et al. Neuromuscul Disord. 2005 Dec;15(12):851-7. doi: 10.1016/j.nmd.2005.09.005. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288875

7

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.

Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W. Schoser BG, et al. Neuropathol Appl Neurobiol. 2007 Oct;33(5):544-59. doi: 10.1111/j.1365-2990.2007.00839.x. Epub 2007 Jun 15. Neuropathol Appl Neurobiol. 2007. PMID: 17573812

8

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

Schoser B, Bruno C, Schneider HC, Shin YS, Podskarbi T, Goldfarb L, Müller-Felber W, Müller-Höcker J. Schoser B, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):52-8. doi: 10.1016/j.ymgme.2008.07.005. Epub 2008 Aug 8. Mol Genet Metab. 2008. PMID: 18691923 Free PMC article.

9

Tenascin is a useful marker in the diagnosis of inflammatory myopathies.

Müller-Felber W, Toepfer M, Müller T, Müller-Höcker J, Fischer P, Lochmüller H, Pongratz D. Müller-Felber W, et al. Eur J Med Res. 1998 Jun 17;3(6):281-7. Eur J Med Res. 1998. PMID: 9620889

10

Exercise-induced myalgia in hypothyroidism.

Lochmüller H, Reimers CD, Fischer P, Heuss D, Müller-Höcker J, Pongratz DE. Lochmüller H, et al. Clin Investig. 1993 Dec;71(12):999-1001. doi: 10.1007/BF00180031. Clin Investig. 1993. PMID: 8124059

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