Angelika Zwirner
Overview
Explore the profile of Angelika Zwirner including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
175
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0
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Recent Articles
1.
Knierim E, Hirata H, Wolf N, Morales-Gonzalez S, Schottmann G, Tanaka Y, et al.
Am J Hum Genet
. 2016 Mar;
98(3):473-489.
PMID: 26924529
Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits...
2.
Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, et al.
J Med Genet
. 2015 Jun;
52(9):607-11.
PMID: 26048982
Background: Various genetic defects cause autism associated with intellectual disability and epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family with three affected children...
3.
Brinckmann A, Weiss C, Wilbert F, von Moers A, Zwirner A, Stoltenburg-Didinger G, et al.
PLoS One
. 2010 Oct;
5(10):e13513.
PMID: 20976001
Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly...
4.
Kaindl A, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, et al.
Prog Neurobiol
. 2009 Nov;
90(3):363-83.
PMID: 19931588
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically exhibit congenital microcephaly as well as mental retardation,...
5.
von Moers A, Zwirner A, Reinhold A, Bruckmann O, van Landeghem F, Stoltenburg-Didinger G, et al.
Acta Neuropathol
. 2004 Dec;
109(3):285-93.
PMID: 15616792
In dystrophinopathies, disease severity is generally related to the extent of muscle fibrosis. To determine whether a decrease in matrix degradation contributes to the severe fibrosis seen in Duchenne muscular...