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

Reply to Comment on: Retinal and Corneal Neurodegeneration and Its Association to Systemic Signs of Peripheral Neuropathy in Type 2 Diabetes.

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.

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

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

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.

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.

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.

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.

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.

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.

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