Schoser B - Search Results

1

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA^Pro) gene variant.

Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M. Joshi PR, et al. Among authors: schoser b. Neuromuscul Disord. 2020 Apr;30(4):346-350. doi: 10.1016/j.nmd.2020.02.020. Epub 2020 Mar 5. Neuromuscul Disord. 2020. PMID: 32305257 Free article.

2

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies.

Krasnianski A, Deschauer M, Neudecker S, Gellerich FN, Müller T, Schoser BG, Krasnianski M, Zierz S. Krasnianski A, et al. Brain. 2005 Aug;128(Pt 8):1870-6. doi: 10.1093/brain/awh540. Epub 2005 May 18. Brain. 2005. PMID: 15901649

3

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. Among authors: schoser bg. 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

4

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: schoser bg. 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

5

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P. Schoser B, et al. Neuromuscul Disord. 2009 Mar;19(3):223-8. doi: 10.1016/j.nmd.2009.01.002. Epub 2009 Feb 8. Neuromuscul Disord. 2009. PMID: 19208478

6

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. Among authors: schoser b. 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

7

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Among authors: schoser b. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.

8

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.

Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B. Regnery C, et al. Among authors: schoser b. J Inherit Metab Dis. 2012 Sep;35(5):837-45. doi: 10.1007/s10545-012-9451-8. Epub 2012 Jan 31. J Inherit Metab Dis. 2012. PMID: 22290025 Clinical Trial.

9

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V. Sarkozy A, et al. Among authors: schoser b. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012. Neuromuscul Disord. 2012. PMID: 22980763

10

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.

Feldkirchner S, Walter MC, Müller S, Kubny C, Krause S, Kress W, Hanisch FG, Schoser B, Schessl J. Feldkirchner S, et al. Among authors: schoser b. Neuromuscul Disord. 2013 May;23(5):418-26. doi: 10.1016/j.nmd.2013.02.006. Epub 2013 Mar 13. Neuromuscul Disord. 2013. PMID: 23489660

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