Martin Krenn

Martin Krenn

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Martin Krenn

Martin Krenn

Publications by authors named "Martin Krenn"

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Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.

Ann Clin Transl Neurol 2019 Nov 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
November 2019

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

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

Am J Ophthalmol 2019 Sep 19. 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
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