Schuelke M - Search Results

1

Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome).

Brinckmann A, Weiss C, Wilbert F, von Moers A, Zwirner A, Stoltenburg-Didinger G, Wilichowski E, Schuelke M. Brinckmann A, et al. Among authors: schuelke m. PLoS One. 2010 Oct 20;5(10):e13513. doi: 10.1371/journal.pone.0013513. PLoS One. 2010. PMID: 20976001 Free PMC article.

2

Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.

Schuelke M, Bakker M, Stoltenburg G, Sperner J, von Moers A. Schuelke M, et al. Ann Neurol. 1998 Oct;44(4):700-4. doi: 10.1002/ana.410440420. Ann Neurol. 1998. PMID: 9778273

3

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.

Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hübner C. Kerst B, et al. Among authors: schuelke m. Neuromuscul Disord. 2000 Dec;10(8):572-7. doi: 10.1016/s0960-8966(00)00150-4. Neuromuscul Disord. 2000. PMID: 11053684

4

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.

Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A. Schuelke M, et al. Neurology. 2000 Nov 28;55(10):1584-6. doi: 10.1212/wnl.55.10.1584. Neurology. 2000. PMID: 11094124

5

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: schuelke m. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.

6

Increased mRNA expression of tissue inhibitors of metalloproteinase-1 and -2 in Duchenne muscular dystrophy.

von Moers A, Zwirner A, Reinhold A, Brückmann O, van Landeghem F, Stoltenburg-Didinger G, Schuppan D, Herbst H, Schuelke M. von Moers A, et al. Among authors: schuelke m. Acta Neuropathol. 2005 Mar;109(3):285-93. doi: 10.1007/s00401-004-0941-0. Epub 2004 Dec 23. Acta Neuropathol. 2005. PMID: 15616792

7

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.

Brinckmann A, Rüther K, Williamson K, Lorenz B, Lucke B, Nürnberg P, Trijbels F, Janssen A, Schuelke M. Brinckmann A, et al. Among authors: schuelke m. J Mol Med (Berl). 2007 Feb;85(2):163-8. doi: 10.1007/s00109-006-0112-y. Epub 2006 Oct 10. J Mol Med (Berl). 2007. PMID: 17031679

8

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Weiss C, Jakubiczka S, Huebner A, Klopocki E, Kress W, Voit T, Hübner C, Schuelke M. Weiss C, et al. Among authors: schuelke m. Muscle Nerve. 2007 Mar;35(3):396-401. doi: 10.1002/mus.20705. Muscle Nerve. 2007. PMID: 17143888

9

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

Brinckmann A, Mischung C, Bässmann I, Kühnisch J, Schuelke M, Tinschert S, Nürnberg P. Brinckmann A, et al. Among authors: schuelke m. Electrophoresis. 2007 Dec;28(23):4295-301. doi: 10.1002/elps.200700118. Electrophoresis. 2007. PMID: 18041031

10

Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.

Knierim E, Lucke B, Schwarz JM, Schuelke M, Seelow D. Knierim E, et al. Among authors: schuelke m. PLoS One. 2011;6(11):e28240. doi: 10.1371/journal.pone.0028240. Epub 2011 Nov 30. PLoS One. 2011. PMID: 22140562 Free PMC article.

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