Publications by authors named "Wolfgang M Schmidt"

35Publications

A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.

Sci Rep 2020 02 11;10(1):2379. Epub 2020 Feb 11.

Department of Molecular Neurosciences, Center for Brain Research, Medical University Vienna, Vienna, Austria.

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February 2020

Evidence of mild founder mutations causing nemaline myopathy 10 in Germany and Austria.

Neurology 2018 10 5;91(18):e1690-e1694. Epub 2018 Oct 5.

From the Department of Human Genetics (UA.S., AS.S., S.R.), Department of Pediatrics (M.B.), Medical University Innsbruck, Austria; Department of Pediatrics, Kaiser Franz Josef Hospital, Vienna, Austria (S.W.); Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Germany (St.W., B.S.); Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, Germany (UA.S., AS.S.); Institute of Pathology, SALK-LKH and PMU (Paracelsus Medical University) Salzburg, Austria (WH.M, retired); Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Austria (RE.B., WM.S.).

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October 2018

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

Am J Hum Genet 2015 Dec 12;97(6):855-61. Epub 2015 Nov 12.

Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, 1090 Vienna, Austria. Electronic address:

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December 2015

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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October 2012

Ramipril modulates circadian gene expression in skeletal muscle.

Pharmacogenet Genomics 2011 Nov;21(11):751-9

Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.

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November 2011

DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.

PLoS Genet 2011 Apr 14;7(4):e1002042. Epub 2011 Apr 14.

Neuromuscular Research Department, Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.

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April 2011

Loss of LAP2 alpha delays satellite cell differentiation and affects postnatal fiber-type determination.

Stem Cells 2010 Mar;28(3):480-8

Department of Medical Biochemistry, Max F. Perutz Laboratories, Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.

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March 2010

In vivo profile of the human leukocyte microRNA response to endotoxemia.

Biochem Biophys Res Commun 2009 Mar 29;380(3):437-41. Epub 2009 Jan 29.

Department of Clinical Pharmacology, Division of Pharmacogenetics & Imaging, Medical University of Vienna, A-1090 Vienna, Austria.

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March 2009

Progressive up-regulation of genes encoding DNA methyltransferases in the colorectal adenoma-carcinoma sequence.

Mol Carcinog 2007 Sep;46(9):766-72

Department of Clinical Pharmacology, Section of Cardiovascular Medicine, Medical University of Vienna, Währinger Gürtel, Vienna, Austria.

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September 2007

Microarray-based detection of bacteria by on-chip PCR.

Methods Mol Biol 2006 ;345:37-51

VBC-GENOMICS Bioscience Research GmbH, Vienna, Austria.

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October 2006

Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth.

Genet Med 2006 Aug;8(8):518-24

Department of General Pediatrics, University Children's Hospital, Medical University of Vienna, Austria.

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August 2006

VBC-Genomics Bioscience Research GmbH (LLC).

Pharmacogenomics 2004 Jun;5(4):439-42

VBC-GENOMICS Bioscience Research GmbH (LLC), Rennweg 95 B, A-1030 Vienna, Austria.

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June 2004