Martin Krenn

Martin Krenn

UNVERIFIED PROFILE

Are you Martin Krenn?   Register this Author

Register author
Martin Krenn

Martin Krenn

Publications by authors named "Martin Krenn"

Are you Martin Krenn?   Register this Author

12Publications

162Reads

34Profile Views

Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.

Authors:
Martin Krenn Margot Ernst Matthias Tomschik Marco Treven Matias Wagner Dominik S Westphal Thomas Meitinger Ekaterina Pataraia Fritz Zimprich Susanne Aull-Watschinger

Ann Clin Transl Neurol 2019 Nov 30;6(11):2317-2322. Epub 2019 Sep 30.

Department of Neurology, Medical University of Vienna, Vienna, Austria.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/acn3.50895DOI Listing
November 2019

Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs.

Authors:
Cheng-Shoong Chong Markus Kunze Bernhard Hochreiter Martin Krenn Johannes Berger Sebastian Maurer-Stroh

Int J Mol Sci 2019 Sep 17;20(18). Epub 2019 Sep 17.

Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), Singapore 138671, Singapore.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.3390/ijms20184609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770196PMC
September 2019

Retinal and Corneal Neurodegeneration and Their Association with Systemic Signs of Peripheral Neuropathy in Type 2 Diabetes.

Authors:
Julia Hafner Markus Zadrazil Anna Grisold Gerda Ricken Martin Krenn Daniela Kitzmantl Andreas Pollreisz Andreas Gleiss Ursula Schmidt-Erfurth

Am J Ophthalmol 2019 Sep 19. Epub 2019 Sep 19.

Department of Ophthalmology and Optometry, Medical University of Vienna, Vienna, Austria. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajo.2019.09.010DOI Listing
September 2019

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.

Authors:
Martin Krenn Ivan Milenkovic Gertrud Eckstein Fritz Zimprich Thomas Meitinger Thomas Foki Matias Wagner

Neurol Genet 2019 Aug 25;5(4):e346. Epub 2019 Jun 25.

Department of Neurology (M.K., I.M., F.Z.), Medical University of Vienna, Austria; Institute of Human Genetics (M.K., T.M., M.W.), Technical University Munich; Institute of Human Genetics (G.E., T.M., M.W.), Helmholtz Zentrum München, Neuherberg, Germany; Department of Neurology (T.F.), Karl Landsteiner University of Health Sciences, Tulln, Austria; and Institute of Neurogenomics (M.W.), Helmholtz Zentrum München, Neuherberg, Germany.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1212/NXG.0000000000000346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659132PMC
August 2019

Biallelic mutations in cause developmental and epileptic encephalopathy.

Authors:
Martin Krenn Alexej Knaus Dominik S Westphal Saskia B Wortmann Tilman Polster Friedrich G Woermann Michael Karenfort Ertan Mayatepek Thomas Meitinger Matias Wagner Felix Distelmaier

Ann Clin Transl Neurol 2019 May 11;6(5):968-973. Epub 2019 Apr 11.

Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital Medical Faculty Heinrich-Heine-University Düsseldorf Düsseldorf Germany.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/acn3.768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530525PMC
May 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Authors:
Martin Krenn Elisabeth Salzer Ingrid Simonitsch-Klupp Jakob Rath Matias Wagner Tobias B Haack Tim M Strom Anne Schänzer Manfred W Kilimann Ralf L J Schmidt Klaus G Schmetterer Alexander Zimprich Kaan Boztug Andreas Hahn Fritz Zimprich

J Neurol 2018 Feb 19;265(2):394-401. Epub 2017 Dec 19.

Department of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.

View Article

Download full-text PDF

 Source
http://link.springer.com/10.1007/s00415-017-8710-x
Publisher Site
http://dx.doi.org/10.1007/s00415-017-8710-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808061PMC
February 2018

Genetic variation in predicts phenytoin-induced maculopapular exanthema in European-descent patients.

Authors:
Mark McCormack Hongsheng Gui Andrés Ingason Doug Speed Galen E B Wright Eunice J Zhang Rodrigo Secolin Clarissa Yasuda Maxwell Kwok Stefan Wolking Felicitas Becker Sarah Rau Andreja Avbersek Kristin Heggeli Costin Leu Chantal Depondt Graeme J Sills Anthony G Marson Pauls Auce Martin J Brodie Ben Francis Michael R Johnson Bobby P C Koeleman Pasquale Striano Antonietta Coppola Federico Zara Wolfram S Kunz Josemir W Sander Holger Lerche Karl Martin Klein Sarah Weckhuysen Martin Krenn Lárus J Gudmundsson Kári Stefánsson Roland Krause Neil Shear Colin J D Ross Norman Delanty Munir Pirmohamed Bruce C Carleton Fernando Cendes Iscia Lopes-Cendes Wei-Ping Liao Terence J O'Brien Sanjay M Sisodiya Stacey Cherny Patrick Kwan Larry Baum Gianpiero L Cavalleri

Neurology 2018 01 29;90(4):e332-e341. Epub 2017 Dec 29.

Author affiliations are provided at the end of the article.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1212/WNL.0000000000004853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798660PMC
January 2018

A sunken ship of the desert at the river Danube in Tulln, Austria.

Authors:
Alfred Galik Elmira Mohandesan Gerhard Forstenpointner Ute Maria Scholz Emily Ruiz Martin Krenn Pamela Burger

PLoS One 2015 1;10(4):e0121235. Epub 2015 Apr 1.

Institute of Population Genetics, Vetmeduni, Vienna, Austria.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0121235PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382051PMC
April 2016

CANOMAD responding to weekly treatment with intravenous immunoglobulin (IVIg).

Authors:
Martin Krenn Geoff Keir Udo Carl Wieshmann

BMJ Case Rep 2014 Apr 10;2014. Epub 2014 Apr 10.

Medical University of Vienna, Vienna, Austria.

View Article

Download full-text PDF

 Source
http://casereports.bmj.com/content/2014/bcr-2013-202545.full
Web Search
http://casereports.bmj.com/cgi/doi/10.1136/bcr-2013-202545
Publisher Site
http://dx.doi.org/10.1136/bcr-2013-202545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987528PMC
April 2014

Cell-cell contact formation governs Ca2+ signaling by TRPC4 in the vascular endothelium: evidence for a regulatory TRPC4-beta-catenin interaction.

Authors:
Annarita Graziani Michael Poteser Wolfgang-Moritz Heupel Hannes Schleifer Martin Krenn Detlev Drenckhahn Christoph Romanin Werner Baumgartner Klaus Groschner

J Biol Chem 2010 Feb 8;285(6):4213-23. Epub 2009 Dec 8.

Institute of Pharmaceutical Sciences-Pharmacology and Toxicology, University of Graz, Universitätsplatz 2, 8010 Graz, Austria.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1074/jbc.M109.060301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823560PMC
February 2010

The first ankyrin-like repeat is the minimum indispensable key structure for functional assembly of homo- and heteromeric TRPC4/TRPC5 channels.

Authors:
Rainer Schindl Irene Frischauf Heike Kahr Reinhard Fritsch Martin Krenn Alexandra Derndl Elisabeth Vales Martin Muik Isabella Derler Klaus Groschner Christoph Romanin

Cell Calcium 2008 Mar 12;43(3):260-9. Epub 2007 Jul 12.

Institute for Biophysics, University of Linz, A-4040 Linz, Austria.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ceca.2007.05.015DOI Listing
March 2008