Deschauer M - Search Results

1

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: deschauer m. 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

2

Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness.

Deschauer M, Wieser T, Neudecker S, Lindner A, Zierz S. Deschauer M, et al. Neuromuscul Disord. 1999 Jul;9(5):305-7. doi: 10.1016/s0960-8966(99)00019-x. Neuromuscul Disord. 1999. PMID: 10407850

3

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

Müller T, Krasnianski M, Witthaut R, Deschauer M, Zierz S. Müller T, et al. Among authors: deschauer m. Neuromuscul Disord. 2005 May;15(5):372-6. doi: 10.1016/j.nmd.2005.02.004. Neuromuscul Disord. 2005. PMID: 15833432

4

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. Among authors: deschauer m. Brain. 2005 Aug;128(Pt 8):1870-6. doi: 10.1093/brain/awh540. Epub 2005 May 18. Brain. 2005. PMID: 15901649

5

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Deschauer M, Morgenroth A, Joshi PR, Gläser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Deschauer M, et al. J Neurol. 2007 Jun;254(6):797-802. doi: 10.1007/s00415-006-0447-x. Epub 2007 Apr 3. J Neurol. 2007. PMID: 17404776

6

Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M. Joshi PR, et al. Among authors: deschauer m. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S261-5. doi: 10.1007/s10545-008-0820-2. Epub 2008 Jul 10. J Inherit Metab Dis. 2008. PMID: 18607768

7

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B. Strothotte S, et al. Among authors: deschauer m. J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1. J Neurol. 2010. PMID: 19649685 Clinical Trial.

8

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, Keil A, Santer R. Lukacs Z, et al. Among authors: deschauer m. J Inherit Metab Dis. 2010 Feb;33(1):43-50. doi: 10.1007/s10545-009-9003-z. Epub 2009 Dec 23. J Inherit Metab Dis. 2010. PMID: 20033296

9

[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

Deschauer M, Joshi PR, Gläser D, Hanisch F, Stoltenburg G, Zierz S. Deschauer M, et al. Nervenarzt. 2011 Dec;82(12):1596-603. doi: 10.1007/s00115-011-3325-4. Nervenarzt. 2011. PMID: 21739273 German.

10

Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.

Lukacs Z, Nieves Cobos P, Keil A, Hartung R, Mengel E, Beck M, Deschauer M, Hanisch F, Santer R. Lukacs Z, et al. Among authors: deschauer m. Clin Biochem. 2011 May;44(7):476. doi: 10.1016/j.clinbiochem.2011.03.008. Clin Biochem. 2011. PMID: 22036333 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

175 results

Search Page

Filters