Schuelke M - Search Results

1

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.

Kölbel H, Preuße C, Brand L, von Moers A, Della Marina A, Schuelke M, Roos A, Goebel HH, Schara-Schmidt U, Stenzel W. Kölbel H, et al. Among authors: schuelke m. Neuropathol Appl Neurobiol. 2021 Oct;47(6):856-866. doi: 10.1111/nan.12730. Epub 2021 May 28. Neuropathol Appl Neurobiol. 2021. PMID: 33973272

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

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

6

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.

7

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.

8

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

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 REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Schottmann G, Seelow D, Seifert F, Morales-Gonzalez S, Gill E, von Au K, von Moers A, Stenzel W, Schuelke M. Schottmann G, et al. Among authors: schuelke m. Neurol Genet. 2015 Oct 22;1(4):e32. doi: 10.1212/NXG.0000000000000032. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066569 Free PMC article.

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