Schuelke M - Search Results

1

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.

Petkova MV, Morales-Gonzales S, Relizani K, Gill E, Seifert F, Radke J, Stenzel W, Garcia L, Amthor H, Schuelke M. Petkova MV, et al. Among authors: schuelke m. Skelet Muscle. 2016 Jul 5;6:25. doi: 10.1186/s13395-016-0095-5. eCollection 2016. Skelet Muscle. 2016. PMID: 27382459 Free PMC article.

2

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

3

Lack of myostatin results in excessive muscle growth but impaired force generation.

Amthor H, Macharia R, Navarrete R, Schuelke M, Brown SC, Otto A, Voit T, Muntoni F, Vrbóva G, Partridge T, Zammit P, Bunger L, Patel K. Amthor H, et al. Among authors: schuelke m. Proc Natl Acad Sci U S A. 2007 Feb 6;104(6):1835-40. doi: 10.1073/pnas.0604893104. Epub 2007 Jan 31. Proc Natl Acad Sci U S A. 2007. PMID: 17267614 Free PMC article.

4

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.

Hoogaars WM, Mouisel E, Pasternack A, Hulmi JJ, Relizani K, Schuelke M, Schirwis E, Garcia L, Ritvos O, Ferry A, 't Hoen PA, Amthor H. Hoogaars WM, et al. Among authors: schuelke m. Hum Gene Ther. 2012 Dec;23(12):1269-79. doi: 10.1089/hum.2012.056. Epub 2012 Sep 24. Hum Gene Ther. 2012. PMID: 22894762

5

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.

6

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

von Renesse A, Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M. von Renesse A, et al. Among authors: schuelke m. J Med Genet. 2014 Apr;51(4):275-82. doi: 10.1136/jmedgenet-2013-102236. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556084

7

Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.

Relizani K, Mouisel E, Giannesini B, Hourdé C, Patel K, Morales Gonzalez S, Jülich K, Vignaud A, Piétri-Rouxel F, Fortin D, Garcia L, Blot S, Ritvos O, Bendahan D, Ferry A, Ventura-Clapier R, Schuelke M, Amthor H. Relizani K, et al. Among authors: schuelke m. Mol Ther. 2014 Aug;22(8):1423-1433. doi: 10.1038/mt.2014.90. Epub 2014 May 27. Mol Ther. 2014. PMID: 24861054 Free PMC article.

8

Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle.

Mouisel E, Relizani K, Mille-Hamard L, Denis R, Hourdé C, Agbulut O, Patel K, Arandel L, Morales-Gonzalez S, Vignaud A, Garcia L, Ferry A, Luquet S, Billat V, Ventura-Clapier R, Schuelke M, Amthor H. Mouisel E, et al. Among authors: schuelke m. Am J Physiol Regul Integr Comp Physiol. 2014 Aug 15;307(4):R444-54. doi: 10.1152/ajpregu.00377.2013. Epub 2014 Jun 25. Am J Physiol Regul Integr Comp Physiol. 2014. PMID: 24965795 Free article.

9

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

10

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

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