Schoser B - Search Results

1

Beyond mean value analysis - a voxel-based analysis of the quantitative MR biomarker water T₂ in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases.

Schlaeger S, Weidlich D, Zoffl A, Becherucci EA, Kottmaier E, Montagnese F, Deschauer M, Schoser B, Zimmer C, Baum T, Karampinos DC, Kirschke JS. Schlaeger S, et al. Among authors: schoser b. NMR Biomed. 2022 Dec;35(12):e4805. doi: 10.1002/nbm.4805. Epub 2022 Aug 15. NMR Biomed. 2022. PMID: 35892264

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

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.

4

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Müller CR. Larsen M, et al. Among authors: schoser b. Eur J Hum Genet. 2015 Jun;23(6):808-16. doi: 10.1038/ejhg.2014.191. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370034 Free PMC article.

5

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Musumeci O, et al. Among authors: schoser b. Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10. Neuromuscul Disord. 2015. PMID: 26231297

6

"Orbiting around" the orbital myositis: clinical features, differential diagnosis and therapy.

Montagnese F, Wenninger S, Schoser B. Montagnese F, et al. Among authors: schoser b. J Neurol. 2016 Apr;263(4):631-40. doi: 10.1007/s00415-015-7926-x. Epub 2015 Oct 17. J Neurol. 2016. PMID: 26477021 Review.

7

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

Kuhn M, Gläser D, Joshi PR, Zierz S, Wenninger S, Schoser B, Deschauer M. Kuhn M, et al. Among authors: schoser b. J Neurol. 2016 Apr;263(4):743-50. doi: 10.1007/s00415-016-8036-0. Epub 2016 Feb 17. J Neurol. 2016. PMID: 26886200

8

Long-term whole-body vibration training in two late-onset Pompe disease patients.

Montagnese F, Thiele S, Wenninger S, Schoser B. Montagnese F, et al. Among authors: schoser b. Neurol Sci. 2016 Aug;37(8):1357-60. doi: 10.1007/s10072-016-2612-z. Epub 2016 May 18. Neurol Sci. 2016. PMID: 27193587

9

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Montagnese F, Klupp E, Karampinos DC, Biskup S, Gläser D, Kirschke JS, Schoser B. Montagnese F, et al. Among authors: schoser b. Muscle Nerve. 2017 Aug;56(2):334-340. doi: 10.1002/mus.25485. Epub 2017 Feb 23. Muscle Nerve. 2017. PMID: 27874200

10

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.

Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B. Montagnese F, et al. Among authors: schoser b. J Neurol. 2017 Dec;264(12):2472-2480. doi: 10.1007/s00415-017-8653-2. Epub 2017 Oct 30. J Neurol. 2017. PMID: 29086017

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