Pongratz D - 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. Among authors: pongratz d. Neuromuscul Disord. 2003 Dec;13(10):830-4. doi: 10.1016/s0960-8966(03)00140-8. Neuromuscul Disord. 2003. PMID: 14678807

2

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. Walter MC, et al. Among authors: pongratz d. Neuromuscul Disord. 2005 Jan;15(1):40-4. doi: 10.1016/j.nmd.2004.09.007. Neuromuscul Disord. 2005. PMID: 15639119

3

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC. Müller JS, et al. Among authors: pongratz d. Neuromuscul Disord. 2006 Jul;16(7):432-6. doi: 10.1016/j.nmd.2006.04.006. Epub 2006 May 26. Neuromuscul Disord. 2006. PMID: 16730439

4

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 B. Müller-Felber W, et al. Among authors: pongratz d. Neuromuscul Disord. 2007 Oct;17(9-10):698-706. doi: 10.1016/j.nmd.2007.06.002. Epub 2007 Jul 23. Neuromuscul Disord. 2007. PMID: 17643989

5

64th ENMC International Workshop: therapeutic approaches to dermatomyositis, polymyositis, and inclusion body myositis29-31 January 1999, Naarden, The Netherlands.

Müller-Felber W, Pongratz D, Reimers C. Müller-Felber W, et al. Among authors: pongratz d. Neuromuscul Disord. 2001 Jan;11(1):88-92. doi: 10.1016/s0960-8966(00)00161-9. Neuromuscul Disord. 2001. PMID: 11166170 No abstract available.

6

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. Among authors: pongratz d. J Neurol. 2003 Dec;250(12):1431-8. doi: 10.1007/s00415-003-0234-x. J Neurol. 2003. PMID: 14673575

7

Immunosuppressive treatment of rippling muscles in patients with myasthenia gravis.

Müller-Felber W, Ansevin CF, Ricker K, Müller-Jenssen A, Töpfer M, Goebel HH, Pongratz DE. Müller-Felber W, et al. Among authors: pongratz de. Neuromuscul Disord. 1999 Dec;9(8):604-7. doi: 10.1016/s0960-8966(99)00065-6. Neuromuscul Disord. 1999. PMID: 10619721

8

High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study.

Walter MC, Lochmüller H, Toepfer M, Schlotter B, Reilich P, Schröder M, Müller-Felber W, Pongratz D. Walter MC, et al. Among authors: pongratz d. J Neurol. 2000 Jan;247(1):22-8. doi: 10.1007/s004150050005. J Neurol. 2000. PMID: 10701893 Clinical Trial.

9

[New insights in pathogenesis and therapy of sporadic inclusion body myositis (s-IBM)].

Walter MC, Lochmüller H, Schlotter B, Reilich P, Müller-Felber W, Pongratz D. Walter MC, et al. Among authors: pongratz d. Nervenarzt. 2001 Feb;72(2):117-21. doi: 10.1007/s001150050723. Nervenarzt. 2001. PMID: 11256145 Review. German.

10

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. Among authors: pongratz d. Neuromuscul Disord. 2002 Dec;12(10):947-51. doi: 10.1016/s0960-8966(02)00182-7. Neuromuscul Disord. 2002. PMID: 12467750

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