von Moers A - 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: von moers a. 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. Among authors: von moers a. Ann Neurol. 1998 Oct;44(4):700-4. doi: 10.1002/ana.410440420. Ann Neurol. 1998. PMID: 9778273

3

Dystrophinopathy in a boy with Chediak-Higashi syndrome.

von Moers A, van Landeghem FK, Cohn RD, Baumgarten E, Bürger J, Stoltenburg-Didinger G. von Moers A, et al. Neuromuscul Disord. 1998 Oct;8(7):489-94. doi: 10.1016/s0960-8966(98)00062-5. Neuromuscul Disord. 1998. PMID: 9829279

4

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: von moers a. Neuromuscul Disord. 2000 Dec;10(8):572-7. doi: 10.1016/s0960-8966(00)00150-4. Neuromuscul Disord. 2000. PMID: 11053684

5

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. Among authors: von moers a. Neurology. 2000 Nov 28;55(10):1584-6. doi: 10.1212/wnl.55.10.1584. Neurology. 2000. PMID: 11094124

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. 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

Delayed or late-onset type II glycogenosis with globular inclusions.

Sharma MC, Schultze C, von Moers A, Stoltenburg-Didinger G, Shin YS, Podskarbi T, Isenhardt K, Tews DS, Goebel HH. Sharma MC, et al. Among authors: von moers a. Acta Neuropathol. 2005 Aug;110(2):151-7. doi: 10.1007/s00401-005-1026-4. Epub 2005 Jun 29. Acta Neuropathol. 2005. PMID: 15986226

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: von moers a. 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: von moers a. 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: von au k, von moers a. 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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