Martin Krenn (M Krenn)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 24

Top Topics

Botulinum Toxin

Muscular Dystrophy

Parkinson Disease

Top Venues

European journal of human genetics : EJHG

European journal of neurology

Annals of clinical and translational neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG (2024)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan Sami Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, E Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric Le Guern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy K Chung, Kathryn Nicole Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
ARF1 -related disorder: phenotypic and molecular spectrum. Journal of medical genetics (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Jakob Rath, Manuela Taborsky, Bernhard Moser, Gudrun Zulehner, Rosa Weng, Martin Krenn, Hakan Cetin, José Ramon Matilla, Leonhard Müllauer, Fritz Zimprich
Short-term and sustained clinical response following thymectomy in patients with myasthenia gravis. European journal of neurology 29 (8) (2022)
Martin Krenn, Rudolf Sommer, Thomas Sycha, Michael Zech
GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype. Movement disorders : official journal of the Movement Disorder Society (2022)
Martin Krenn, Matthias Tomschik, Matias Wagner, Gudrun Zulehner, Rosa Weng, Jakob Rath, Sigrid Klotz, Ellen Gelpi, Gabriel Bsteh, Omar Keritam, Isabella Colonna, Chiara Paternostro, Fiona Jäger, Elisabeth Lindeck-Pozza, Stephan Iglseder, Susanne Grinzinger, Martina Schönfelder, Christina Hohenwarter, Manfred Freimüller, Norbert Embacher, Julia V Wanschitz, Raffi Topakian, Ana Töpf, Volker Straub, Stefan Quasthoff, Fritz Zimprich, Wolfgang N Löscher, Hakan Cetin
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study. European journal of neurology 29 (6) (2022)
Martin Krenn, Ellen Gelpi, Ingrid Simonitsch-Klupp, Gregor Kasprian, Gudun Zulehner, Anna Grisold, Fritz Zimprich, Hakan Cetin, Martin Hülsmann, Philipp Wohlfarth
Muscle involvement in T-cell large granular lymphocytic leukemia presenting with asymmetric limb-girdle weakness and scapular winging. Muscle & nerve 66 (4) (2022)
Florian D Vogel, Martin Krenn, Dominik Sebastian Westphal, Elisabeth Graf, Matias Wagner, Steffen Leiz, Filip Koniuszewski, Maximilian Augé-Stock, Georg Kramer, Petra Scholze, Margot Ernst
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. Epilepsia 63 (4) (2022)
Diane Doummar, Marco Treven, Leila Qebibo, David Devos, Jamal Ghoumid, Claudia Ravelli, Gottfried Kranz, Martin Krenn, Diane Demailly, Laura Cif, Jean-Baptiste Davion, Fritz Zimprich, Lydie Burglen, Michael Zech
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8. Annals of clinical and translational neurology 8 (10) (2021)
Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, null null, Samuel Frank Berkovic, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Michael R Johnson, Bobby P C Koeleman, Wolfram S Kunz, Holger Lerche, Anthony G Marson, Terence J O'Brien, Slave Petrovski, Josemir W Sander, Graeme J Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M Sisodiya, Simon L Girard, Patrick Cossette
Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. Annals of clinical and translational neurology 8 (7) (2021)
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
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. Journal of medical genetics 57 (9) (2020)
Stefan Wolking, Claudia Moreau, Anne T Nies, Elke Schaeffeler, Mark McCormack, Pauls Auce, Andreja Avbersek, Felicitas Becker, Martin Krenn, Rikke Steensjerre Moller, 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, null null
Testing association of rare genetic variants with resistance to three common antiseizure medications. Epilepsia 61 (4) (2020)
Martin Krenn, Matthias Tomschik, J Rath, H Cetin, A Grisold, G Zulehner, Ivan Milenkovic, E Stogmann, A Zimprich, T M Strom, T Meitinger, Matias Wagner, F Zimprich
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. European journal of neurology 27 (1) (2019)
Martin Krenn, Ivan Milenkovic, Gertrud Eckstein, Fritz Zimprich, Thomas Meitinger, Thomas Foki, Matias Wagner
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. Neurology. Genetics 5 (4) (2019)
Martin Krenn, Margot Ernst, Matthias Tomschik, Marco Treven, Matias Wagner, Dominik S Westphal, Thomas Meitinger, Ekaterina Pataraia, Fritz Zimprich, Susanne Aull-Watschinger
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins. Annals of clinical and translational neurology 6 (11) (2019)
Martin Krenn, G Zulehner, C Hotzy, J Rath, E Stogmann, M Wagner, T B Haack, T M Strom, A Zimprich, F Zimprich
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. European journal of neurology 24 (5) (2017)