Georg Christoph Korenke

Georg Christoph Korenke

UNVERIFIED PROFILE

Are you Georg Christoph Korenke?   Register this Author

Register author
Georg Christoph Korenke

Georg Christoph Korenke

Publications by authors named "Georg Christoph Korenke"

Are you Georg Christoph Korenke?   Register this Author

18Publications

603Reads

37Profile Views

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Mol Biol Rep 2019 Aug 3;46(4):4507-4516. Epub 2019 Jul 3.

Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Ammerländer Heerstr. 114-118, 26129, Oldenburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11033-019-04906-4DOI Listing
August 2019

HACE1 deficiency leads to structural and functional neurodevelopmental defects.

Neurol Genet 2019 Jun 29;5(3):e330. Epub 2019 Apr 29.

IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC-Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center for Cardiovascular Research (DZHK e.V.) (F.J.K.), Partner Site Hamburg/Kiel/Lübeck, Lübeck; Institute of Cellular Neurosciences (M.K.H., C.H.), University of Bonn Medical School, Germany; Centre for Neuroendocrinology (M.K.H.), Department of Physiology, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand; Department of Neurophysiology and Neuropharmacology (A.C., F.J.M.Q.), Center for Physiology and Pharmacology, Medical University of Vienna, Austria; Drug Safety and Metabolism (R.N.), IMED Biotech Unit, AstraZeneca, Gothenburg, Sweden; Division of Genetics and the Roberts Individualized Medical Genetics Center (M.A.D., E.C.B.), Children's Hospital of Philadelphia, PA; Departments of Pediatrics (M.A.D.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Institute of Human Genetics (Y.L., G.Y., B.W.), University Medical Center Göttingen, Germany; Institute of Neurology (C.H.), University College London, UK; German Center for Neurodegenerative Diseases (DZNE) (C.H.), Bonn, Germany; Zentrum für Kinder- und Jugendmedizin (G.C.K.), Neuropädiatrie, Klinikum Oldenburg, Germany; Department of Medical Genetics (E.F.P.), Faculty of Medicine, Gazi University, Ankara, Turkey; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (P.B., J.M.), Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561753PMC
June 2019

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.

Eur J Med Genet 2018 Jun 7;61(6):329-334. Epub 2018 May 7.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.01.010DOI Listing
June 2018

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

Epilepsia 2016 Mar 20;57(3):e60-3. Epub 2016 Jan 20.

Institute of Human Genetics, Ludwig-Maximilians-University Hospital, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.13307DOI Listing
March 2016

Horizontal head titubation in infants with Joubert syndrome: a new finding.

Dev Med Child Neurol 2014 Oct 10;56(10):1016-20. Epub 2014 May 10.

Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12489DOI Listing
October 2014

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Eur J Med Genet 2013 Jun 3;56(6):325-30. Epub 2013 Apr 3.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg, Germany.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212130008
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2013.03.009DOI Listing
June 2013

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Am J Med Genet A 2011 Aug 7;155A(8):1917-22. Epub 2011 Jul 7.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34102DOI Listing
August 2011