Schuelke M - Search Results

1

Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

Knierim E, Leisle L, Wagner C, Weschke B, Lucke B, Bohner G, Dreier JP, Schuelke M. Knierim E, et al. Among authors: schuelke m. Stroke. 2011 Feb;42(2):e14-7. doi: 10.1161/STROKEAHA.110.600023. Epub 2010 Dec 23. Stroke. 2011. PMID: 21183743

2

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Grohmann K, et al. Among authors: schuelke m. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396

3

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.

4

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

5

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.

6

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.

Schottmann G, Stenzel W, Lützkendorf S, Schuelke M, Knierim E. Schottmann G, et al. Among authors: schuelke m. Clin Genet. 2014 Mar;85(3):290-2. doi: 10.1111/cge.12137. Epub 2013 Mar 25. Clin Genet. 2014. PMID: 23521069 No abstract available.

7

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.

Knierim E, Schwarz JM, Schuelke M, Seelow D. Knierim E, et al. Among authors: schuelke m. J Med Genet. 2013 Aug;50(8):529-33. doi: 10.1136/jmedgenet-2012-101497. Epub 2013 May 31. J Med Genet. 2013. PMID: 23729504

8

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Knierim E, Seelow D, Gill E, von Moers A, Schuelke M. Knierim E, et al. Among authors: schuelke m. Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4. Mitochondrion. 2015. PMID: 25446393

9

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Schottmann G, et al. Among authors: schuelke m. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568292

10

Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.

Drenckhahn A, Schuelke M, Knierim E. Drenckhahn A, et al. Among authors: schuelke m. J Inherit Metab Dis. 2015 Sep;38(5):983-4. doi: 10.1007/s10545-015-9812-1. Epub 2015 Feb 3. J Inherit Metab Dis. 2015. PMID: 25647544

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