von Moers A - Search Results

1

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Among authors: von moers a. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542

2

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

3

MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, Von Moers A. Reinhold A, et al. Among authors: von moers a. AJNR Am J Neuroradiol. 2003 May;24(5):825-8. AJNR Am J Neuroradiol. 2003. PMID: 12748078 Free PMC article. Review.

4

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T. Neumann LM, et al. Among authors: von moers a. Eur J Pediatr. 2003 Oct;162(10):710-3. doi: 10.1007/s00431-003-1278-8. Epub 2003 Aug 2. Eur J Pediatr. 2003. PMID: 12905014

5

Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts.

Endesfelder S, Kliche A, Lochmüller H, von Moers A, Speer A. Endesfelder S, et al. Among authors: von moers a. J Mol Med (Berl). 2005 Jan;83(1):64-71. doi: 10.1007/s00109-004-0607-3. Epub 2004 Nov 5. J Mol Med (Berl). 2005. PMID: 15536518

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

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schweizer U, Grueters A. Biebermann H, et al. Among authors: von moers a. Eur J Endocrinol. 2005 Sep;153(3):359-66. doi: 10.1530/eje.1.01980. Eur J Endocrinol. 2005. PMID: 16131597

8

Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy.

Sifringer M, Uhlenberg B, Lammel S, Hanke R, Neumann B, von Moers A, Koch I, Speer A. Sifringer M, et al. Among authors: von moers a. Hum Genet. 2004 Jan;114(2):149-56. doi: 10.1007/s00439-003-1041-2. Epub 2003 Nov 5. Hum Genet. 2004. PMID: 14600829

9

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Horn D, Tönnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O. Horn D, et al. Among authors: von moers a. Am J Med Genet A. 2004 Jul 1;128A(1):85-92. doi: 10.1002/ajmg.a.30031. Am J Med Genet A. 2004. PMID: 15211664

10

Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. von der Hagen M, et al. Among authors: von moers a. Neuromuscul Disord. 2006 Jan;16(1):4-13. doi: 10.1016/j.nmd.2005.10.001. Epub 2005 Dec 27. Neuromuscul Disord. 2006. PMID: 16378727

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