Schoser B - Search Results

1

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W. Vill K, et al. Among authors: schoser b. J Neuromuscul Dis. 2017;4(4):315-325. doi: 10.3233/JND-170231. J Neuromuscul Dis. 2017. PMID: 29172004

2

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Schoser BG, Kress W, Walter MC, Halliger-Keller B, Lochmüller H, Ricker K. Schoser BG, et al. Brain. 2004 Aug;127(Pt 8):1868-77. doi: 10.1093/brain/awh210. Epub 2004 Jul 1. Brain. 2004. PMID: 15231584

3

Prediction of response to IVIg treatment in patients with lower motor neurone disorders.

Strigl-Pill N, König A, Schröder M, Beranek H, Schoser BG, Spaeth M, Pongratz D, Müller-Felber W. Strigl-Pill N, et al. Among authors: schoser bg. Eur J Neurol. 2006 Feb;13(2):135-40. doi: 10.1111/j.1468-1331.2006.01142.x. Eur J Neurol. 2006. PMID: 16490043 Clinical Trial.

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

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H. Walter MC, et al. Among authors: schoser bg. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

6

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

7

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: schoser b. 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

8

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein.

Krause S, Göhringer T, Walter MC, Schoser BG, Reilich P, Linn J, Pöpperl GE, Frölich L, Hentschel F, Lochmüller H, Danek A. Krause S, et al. Among authors: schoser bg. Clin Neuropathol. 2007 Sep-Oct;26(5):232-40. doi: 10.5414/npp26232. Clin Neuropathol. 2007. PMID: 17907600

9

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.

10

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.

Schoser B, Gläser D, Müller-Höcker J. Schoser B, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2911-5. doi: 10.1002/ajmg.a.32529. Am J Med Genet A. 2008. PMID: 18924225

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