Publications by authors named "Martin Krenn"

22Publications

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

Pathomechanisms and Clinical Implications of Myasthenic Syndromes Exacerbated and Induced by Medical Treatments.

Authors:
Martin Krenn Anna Grisold Philipp Wohlfarth Jakob Rath Hakan Cetin Inga Koneczny Fritz Zimprich

Front Mol Neurosci 2020 14;13:156. Epub 2020 Aug 14.

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

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http://dx.doi.org/10.3389/fnmol.2020.00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457047PMC
August 2020

Reply to Comment on: Retinal and Corneal Neurodegeneration and Its Association to 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 2020 08 11;216:287-288. Epub 2020 Jun 11.

Department of Ophthalmology and Optometry, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.ajo.2020.04.009DOI Listing
August 2020

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Authors:
Ponghatai Boonsimma Marius Michael Gasser Wiracha Netbaramee Thanin Wechapinan Chalurmpon Srichomthong Chupong Ittiwut Matias Wagner Martin Krenn Fritz Zimprich Angela Abicht Saskia Biskup Timo Roser Ingo Borggraefe Kanya Suphapeetiporn Vorasuk Shotelersuk

Gene 2020 Jul 25;749:144709. Epub 2020 Apr 25.

Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.

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http://dx.doi.org/10.1016/j.gene.2020.144709DOI Listing
July 2020

The TGF-b/SOX4 axis and ROS-driven autophagy co-mediate CD39 expression in regulatory T-cells.

Authors:
Marlene C Gerner Liesa S Ziegler Ralf L J Schmidt Martin Krenn Fritz Zimprich Keziban Uyanik-Ünal Vassiliki Konstantopoulou Sophia Derdak Giorgia Del Favero Ilse Schwarzinger Kaan Boztug Klaus G Schmetterer

FASEB J 2020 Jun 22;34(6):8367-8384. Epub 2020 Apr 22.

Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1096/fj.201902664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317981PMC
June 2020

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

Authors:
Stefan Wolking Herbert Schulz Anne T Nies Mark McCormack Elke Schaeffeler Pauls Auce Andreja Avbersek Felicitas Becker Karl M Klein Martin Krenn Rikke S Møller Marina Nikanorova Sarah Weckhuysen EpiPGx Consortium Gianpiero L Cavalleri Norman Delanty Chantal Depondt Michael R Johnson Bobby Pc Koeleman Wolfram S Kunz Anthony G Marson Josemir W Sander Graeme J Sills Pasquale Striano Federico Zara Fritz Zimprich Yvonne G Weber Roland Krause Sanjay Sisodiya Matthias Schwab Thomas Sander Holger Lerche

Pharmacogenomics 2020 Apr 20;21(5):325-335. Epub 2020 Apr 20.

Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

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http://dx.doi.org/10.2217/pgs-2019-0179DOI Listing
April 2020

Testing association of rare genetic variants with resistance to three common antiseizure medications.

Authors:
Stefan Wolking Claudia Moreau Anne T Nies Elke Schaeffeler Mark McCormack Pauls Auce Andreja Avbersek Felicitas Becker Martin Krenn Rikke S Møller Marina Nikanorova Yvonne G Weber Sarah Weckhuysen Gianpiero L Cavalleri Norman Delanty Chantal Depondt Michael R Johnson Bobby P C Koeleman Wolfram S Kunz Anthony G Marson Josemir W Sander Graeme J Sills Pasquale Striano Federico Zara Fritz Zimprich Matthias Schwab Roland Krause Sanjay M Sisodiya Patrick Cossette Simon L Girard Holger Lerche

Epilepsia 2020 04 6;61(4):657-666. Epub 2020 Mar 6.

Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1111/epi.16467DOI Listing
April 2020

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.

Authors:
Martin Krenn Matias Wagner Christoph Hotzy Elisabeth Graf Sandrina Weber Theresa Brunet Bettina Lorenz-Depiereux Gregor Kasprian Susanne Aull-Watschinger Ekaterina Pataraia Elisabeth Stogmann Alexander Zimprich Tim M Strom Thomas Meitinger Fritz Zimprich

J Med Genet 2020 Sep 21;57(9):624-633. Epub 2020 Feb 21.

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

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http://dx.doi.org/10.1136/jmedgenet-2019-106658DOI Listing
September 2020

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Authors:
Marius Gasser Ponghatai Boonsimma Wiracha Netbaramee Thanin Wechapinan Chalurmpon Srichomthomg Chupong Ittiwut Martin Krenn Fritz Zimprich Ivan Milenkovic Angela Abicht Saskia Biskup Timo Roser Vorasuk Shotelersuk Moritz Tacke Marianne Kuersten Matias Wagner Ingo Borggraefe Kanya Suphapeetiporn Celina von Stülpnagel

J Clin Neurosci 2020 Feb 17;72:31-38. Epub 2020 Jan 17.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig-Maximilian-University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, Germany; Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2020.01.041DOI Listing
February 2020

Frequency and clinical features of treatment-refractory myasthenia gravis.

Authors:
Jakob Rath Ines Brunner Matthias Tomschik Gudrun Zulehner Eva Hilger Martin Krenn Anna Paul Hakan Cetin Fritz Zimprich

J Neurol 2020 Apr 11;267(4):1004-1011. Epub 2019 Dec 11.

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

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http://dx.doi.org/10.1007/s00415-019-09667-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109164PMC
April 2020

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 11 30;6(11):2317-2322. Epub 2019 Sep 30.

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

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http://dx.doi.org/10.1002/acn3.50895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856628PMC
November 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 2020 01 19;209:197-205. Epub 2019 Sep 19.

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

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http://dx.doi.org/10.1016/j.ajo.2019.09.010DOI Listing
January 2020

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.

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

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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.

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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.

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

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

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

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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.

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http://casereports.bmj.com/content/2014/bcr-2013-202545.full
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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.

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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.

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