Susann Schweiger

Susann Schweiger

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Susann Schweiger

Susann Schweiger

Publications by authors named "Susann Schweiger"

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42Publications

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Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A 2019 07 9;179(7):1214-1225. Epub 2019 May 9.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61172
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http://dx.doi.org/10.1002/ajmg.a.61172DOI Listing
July 2019

18F-FDG PET/CT: an unexpected case of Huntington's disease.

BMC Neurol 2019 May 1;19(1):78. Epub 2019 May 1.

Department of Nuclear Medicine, University Medical Center of Johannes Gutenberg-University, Mainz, Germany.

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http://dx.doi.org/10.1186/s12883-019-1311-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6495557PMC
May 2019

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Orphanet J Rare Dis 2018 01 26;13(1):23. Epub 2018 Jan 26.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1186/s13023-018-0763-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787287PMC
January 2018

NDST1 missense mutations in autosomal recessive intellectual disability.

Am J Med Genet A 2014 Nov 14;164A(11):2753-63. Epub 2014 Aug 14.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36723DOI Listing
November 2014

The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of Fu.

J Biol Chem 2014 Nov 2;289(46):31805-17. Epub 2014 Oct 2.

the German Center for Neurodegenerative Diseases, 53127 Bonn, Germany,

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http://dx.doi.org/10.1074/jbc.M113.541219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231658PMC
November 2014

Mitochondrial function and energy metabolism in neuronal HT22 cells resistant to oxidative stress.

Br J Pharmacol 2014 Apr;171(8):2147-58

Department of Neurology, University Medical Center and Focus Program Translational Neuroscience (FTN) of the Johannes Gutenberg-University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1111/bph.12549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976627PMC
April 2014

Control of mTORC1 signaling by the Opitz syndrome protein MID1.

Proc Natl Acad Sci U S A 2011 May 9;108(21):8680-5. Epub 2011 May 9.

Signal Transduction Program, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1073/pnas.1100131108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102420PMC
May 2011

PPARdelta is a type 1 IFN target gene and inhibits apoptosis in T cells.

J Invest Dermatol 2008 Aug 28;128(8):1940-9. Epub 2008 Feb 28.

Department of Biology, Free University of Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/jid.2008.32DOI Listing
August 2008

Protein phosphatase 2A and rapamycin regulate the nuclear localization and activity of the transcription factor GLI3.

Cancer Res 2008 Jun;68(12):4658-65

Charité University Hospital, Department of Dermatology and Max-Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1158/0008-5472.CAN-07-6174DOI Listing
June 2008

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.

Hum Genet 2006 Jan 25;118(5):559-67. Epub 2005 Oct 25.

Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-005-0084-yDOI Listing
January 2006

Characterization of FBX25, encoding a novel brain-expressed F-box protein.

Biochim Biophys Acta 2006 Jan 24;1760(1):110-8. Epub 2005 Oct 24.

Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1016/j.bbagen.2005.09.018DOI Listing
January 2006

NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.

Invest Ophthalmol Vis Sci 2003 Oct;44(10):4184-91

Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.03-0251DOI Listing
October 2003

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

Am J Med Genet A 2003 Aug;120A(4):547-52

Max-Planck-Institut für Molekulare Medizin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20062DOI Listing
August 2003

The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.

Bioessays 2003 Apr;25(4):356-66

Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany.

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http://dx.doi.org/10.1002/bies.10256DOI Listing
April 2003

Elevated levels of Rad51 recombination protein in tumor cells.

Cancer Res 2002 Jan;62(1):219-25

Max Planck Institute of Molecular Genetics, 14195 Berlin, Germany.

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January 2002