Johannes Adalbert Mayr (Johannes A Mayr)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 37

Top Topics

Intellectual Disability

Helicobacter Pylori

Top Venues

Oxidative medicine and cellular longevity

Neurology. Genetics

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

Publications

Maximilian Penkl, Johannes Adalbert Mayr, René Günther Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency. Metabolites 14 (4) (2024)
Maximilian Penkl, Johannes Adalbert Mayr, René Günther Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency. Metabolites 14 (4) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Maximilian Penkl, Johannes Adalbert Mayr, René Günther Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency. Metabolites 14 (4) (2024)
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René Günther Feichtinger, Johannes Adalbert Mayr, Martina Škopková, Daniela Gasperikova, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes 14 (12) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
Melanie T Achleitner, Judith J M Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René Günther Feichtinger, Karin Brugger, Doris Mayr, Ron A Wevers, Christian Thiel, Saskia B Wortmann, Johannes Adalbert Mayr
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. Metabolites 13 (11) (2023)
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René Günther Feichtinger, Johannes Adalbert Mayr, Martina Škopková, Daniela Gasperikova, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes 14 (12) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon H Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter M Krawitz, Linus Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, Francois V Bolduc, Elke Krüger, Stephane Bezieau
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science translational medicine 15 (698) (2023)
Ahmed El-Gazzar, Barbara Voraberger, Frank Rauch, Mario Mairhofer, Katy Schmidt, Brecht Guillemyn, Goran Mitulović, Veronika Reiterer, Margot Haun, Michaela M Mayr, Johannes Adalbert Mayr, Susanne Kimeswenger, Oliver Drews, Vrinda Saraff, Nick Shaw, Nadja Fratzl-Zelman, Sofie Symoens, Hesso Farhan, Wolfgang Högler
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress. EMBO molecular medicine (2023)
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René Günther Feichtinger, Johannes Adalbert Mayr, Martina Škopková, Daniela Gasperikova, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes 14 (12) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
Sara Carvalhal, Ingrid Bader, Martin A Rooimans, Anneke B Oostra, Jesper A Balk, René Günther Feichtinger, Christine Beichler, Michael R Speicher, Johanna M van Hagen, Quinten Waisfisz, Mieke van Haelst, Martijn Bruijn, Alexandra Tavares, Johannes Adalbert Mayr, Rob M F Wolthuis, Raquel de Vasconcellos Carvalhaes de Oliveira, Job de Lange
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Science advances 8 (3) (2022)
Nathalie Stummer, Daniel Weghuber, René Günther Feichtinger, Sara Huber, Johannes Adalbert Mayr, Barbara Kofler, Daniel Neureiter, Eckhard Klieser, Sarah Hochmann, Wanda Lauth, Anna Maria Schneider
Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease. Antioxidants (Basel, Switzerland) 11 (11) (2022)
Anna Maria Schneider, Mihriban Özsoy, Franz A Zimmermann, Susanne Maria Brunner, René Günther Feichtinger, Johannes Adalbert Mayr, Barbara Kofler, Daniel Neureiter, Eckhard Klieser, Elmar Aigner, Sebastian Schütz, Nathalie Stummer, Wolfgang Sperl, Daniel Weghuber
Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease. Oxidative medicine and cellular longevity 2022 (2022)
René Günther Feichtinger, Martin Preisel, Katja Steinbrücker, Karin Brugger, Alexandra Radda, Saskia B Wortmann, Johannes Adalbert Mayr
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. Genes 13 (12) (2022)
René Günther Feichtinger, Martin Preisel, Katja Steinbrücker, Karin Brugger, Alexandra Radda, Saskia B Wortmann, Johannes Adalbert Mayr
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. Genes 13 (12) (2022)
René Günther Feichtinger, Martin Preisel, Katja Steinbrücker, Karin Brugger, Alexandra Radda, Saskia B Wortmann, Johannes Adalbert Mayr
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. Genes 13 (12) (2022)
Bigna Katrin Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth Tuura O'Gorman, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes Adalbert Mayr, Holger Prokisch, Saskia B Wortmann
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17) (2022)
René Günther Feichtinger, Martin Preisel, Katja Steinbrücker, Karin Brugger, Alexandra Radda, Saskia B Wortmann, Johannes Adalbert Mayr
A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. Genes 13 (12) (2022)
Caroline A Biagosch, Silvia Vidali, Michael Faerberboeck, Svenja-Viola Hensler, Lore Becker, Oana Veronica Amarie, Juan Antonio Aguilar-Pimentel, Lillian Garrett, Tanja Klein-Rodewald, Birgit Rathkolb, Enrica Zanuttigh, Julia Calzada-Wack, Patricia da Silva-Buttkus, Jan Rozman, Irina Treise, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabě de Angelis, Dirk Janik, Wolfgang Wurst, Johannes Adalbert Mayr, Florentine Radelfahr, Thomas Meitinger, Holger Prokisch, Arcangela Iuso
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. Mammalian genome : official journal of the International Mammalian Genome Society 32 (5) (2021)
René Günther Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes Adalbert Mayr, Saskia B Wortmann
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder. EMBO molecular medicine 13 (9) (2021)
Hasret Ayyıldız Civan, Coleen Leitner, Iris Östreicher, Anna-Maria Schneider, Malte Cremer, Johannes Adalbert Mayr, Rainer Rossi, Rupert Oberhuber, Andreas R Janecke
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families. Children (Basel, Switzerland) 8 (6) (2021)
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, René Günther Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine Maria Hölter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes Adalbert Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valérie Gailus-Durner, Martin Hrabě de Angelis
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. EMBO molecular medicine 13 (12) (2021)
Gizem Inak, Agnieszka Rybak-Wolf, Pawel Lisowski, Tancredi M Pentimalli, René Jüttner, Petar Glažar, Karan Uppal, Emanuela Bottani, Dario Brunetti, Christopher Secker, Annika Zink, David Meierhofer, Marie-Thérèse Henke, Monishita Dey, Ummi Ciptasari, Barbara Mlody, Tobias Hahn, Maria Berruezo-Llacuna, Nikos Karaiskos, Michela Di Virgilio, Johannes Adalbert Mayr, Saskia B Wortmann, Josef Priller, Michael Gotthardt, Dean P Jones, Ertan Mayatepek, Werner Stenzel, Sebastian Diecke, Ralf Kühn, Erich E Wanker, Nikolaus Rajewsky, Markus Schuelke, Alessandro Prigione
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nature communications 12 (1) (2021)
Claudia Stendel, Christiane M Neuhofer, Elisa Floride, Shi Yuqing, Rebecca D Ganetzky, Joohyun Park, Peter Freisinger, Cornelia Kornblum, Stephanie Kleinle, Ludger Schöls, Felix Distelmaier, Georg M Stettner, Boriana Büchner, Marni J Falk, Johannes Adalbert Mayr, Matthis Synofzik, Angela Abicht, Tobias B Haack, Holger Prokisch, Saskia B Wortmann, Kei Murayama, Fang Fang, Thomas Klopstock, null null
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurology. Genetics 6 (1) (2020)
Wolfgang Sperl, Saskia B Wortmann, René Günther Feichtinger, Johannes Adalbert Mayr
The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era. Journal of mother and child 24 (2) (2020)
Anna M Schneider, Mihriban Özsoy, Franz A Zimmermann, René Günther Feichtinger, Johannes Adalbert Mayr, Barbara Kofler, Wolfgang Sperl, Daniel Weghuber, Katharina Mörwald
Age-Related Deterioration of Mitochondrial Function in the Intestine. Oxidative medicine and cellular longevity 2020 (2020)
René G Feichtinger, Bettina E Mucha, Holger Hengel, Zakaria Orfi, Christine Makowski, Junio Dort, Guy D'Anjou, Thi Tuyet Mai Nguyen, Rebecca Buchert, Hendrik Juenger, Peter Freisinger, Sarah Baumeister, Benedikt Schoser, Uwe Ahting, Reinhard Keimer, Cam-Tu Emilie Nguyen, Paul Fabre, Julie Gauthier, Marguerite Miguet, Fátima Lopes, Afnan AlHakeem, Amal M Alhashem, Brahim Tabarki, Krishna Kumar Kandaswamy, Peter Bauer, Peter Steinbacher, Holger Prokisch, Marc Sturm, Tim M Strom, Benjamin Ellezam, Johannes Adalbert Mayr, Ludger Schöls, Jacques L Michaud, Philippe M Campeau, Tobias B Haack, Nicolas A Dumont
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
René Günther Feichtinger, Georg Schäfer, Christof Seifarth, Johannes Adalbert Mayr, Barbara Kofler, Helmut Klocker
Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer. Oxidative medicine and cellular longevity 2018 (2018)
René Günther Feichtinger, Daniel Neureiter, Tom Skaria, Silja Wessler, Timothy L Cover, Johannes Adalbert Mayr, Franz A Zimmermann, Gernot Posselt, Wolfgang Sperl, Barbara Kofler
Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis. Oxidative medicine and cellular longevity 2017 (2017)
René Günther Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes Adalbert Mayr
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. Oxidative medicine and cellular longevity 2017 (2017)
Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes Adalbert Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
Molecular and clinical spectra of FBXL4 deficiency. Human mutation 38 (12) (2017)