Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence

by Ines Kapferer-Seebacher, Lena Foradori, Johannes Zschocke, Reinhard Schilke
Published 2021-07-01

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

by Ines Kapferer-Seebacher, Dagmar Schnabl, Johannes Zschocke, F. Michael Pope
Published 2020-03-01

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

by Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami
Published 2018-08-01

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

by Friedrich Stock, Marcel Hanisch, Sarah Lechner, Saskia Biskup, Axel Bohring, Johannes Zschocke, Ines Kapferer-Seebacher
Published 2021-01-01

SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.

by Maria Fischer, Rene Snajder, Stephan Pabinger, Andreas Dander, Anna Schossig, Johannes Zschocke, Zlatko Trajanoski, Gernot Stocker
Published 2012-01-01

Synthesis and metabolism of leukotrienes in γ-glutamyl transpeptidase deficiency

by Ertan Mayatepek, Jürgen G. Okun, Thomas Meissner, Birgit Assmann, Judith Hammond, Johannes Zschocke, Wolf-Dieter Lehmann
Published 2004-05-01

Membrane Sphingolipids Regulate the Fitness and Antifungal Protein Susceptibility of Neurospora crassa

by Anna Huber, Gregor Oemer, Nermina Malanovic, Karl Lohner, Laura Kovács, Willi Salvenmoser, Johannes Zschocke, Markus A. Keller, Florentine Marx
Published 2019-04-01

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

by Verena Peters, Marina Morath, Matthias Mack, Michael Liesert, Wolfgang Buckel, Georg F. Hoffmann, Jerry Vockley, Sandro Ghisla, Johannes Zschocke
Published 2019-05-01

Detection and analysis of pulse waves during sleep via wrist-worn actigraphy.

by Johannes Zschocke, Maria Kluge, Luise Pelikan, Antonia Graf, Martin Glos, Alexander Müller, Rafael Mikolajczyk, Ronny P Bartsch, Thomas Penzel, Jan W Kantelhardt
Published 2019-01-01

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

by Isabelle Bally, Fabien Dalonneau, Anne Chouquet, Rebekka Gröbner, Albert Amberger, Ines Kapferer-Seebacher, Heribert Stoiber, Johannes Zschocke, Nicole M. Thielens, Véronique Rossi, Christine Gaboriaud
Published 2019-12-01

Phospholipid Acyl Chain Diversity Controls the Tissue-Specific Assembly of Mitochondrial Cardiolipins

by Gregor Oemer, Jakob Koch, Yvonne Wohlfarter, Mohammad T. Alam, Katharina Lackner, Sabrina Sailer, Lukas Neumann, Herbert H. Lindner, Katrin Watschinger, Markus Haltmeier, Ernst R. Werner, Johannes Zschocke, Markus A. Keller
Published 2020-03-01

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

by Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Published 2019-11-01

Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

by Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Published 2019-12-01

Fatty acyl availability modulates cardiolipin composition and alters mitochondrial function in HeLa cells

by Gregor Oemer, Marie-Luise Edenhofer, Yvonne Wohlfarter, Katharina Lackner, Geraldine Leman, Jakob Koch, Luiza H.D. Cardoso, Herbert H. Lindner, Erich Gnaiger, Sandrine Dubrac, Johannes Zschocke, Markus A. Keller
Published 2021-01-01

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers

by Dulce Lima Cunha, Amanda Oram, Robert Gruber, Roswitha Plank, Arno Lingenhel, Manoj K. Gupta, Janine Altmüller, Peter Nürnberg, Matthias Schmuth, Johannes Zschocke, Tomo Šarić, Katja M. Eckl, Hans C. Hennies
Published 2021-02-01

Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal

by Tim Weigand, Benjamin Singler, Thomas Fleming, Peter Nawroth, Karel D. Klika, Christian Thiel, Hans Baelde, Sven F. Garbade, Andreas H. Wagner, Markus Hecker, Benito A. Yard, Albert Amberger, Johannes Zschocke, Claus P. Schmitt, Verena Peters
Published 2018-03-01

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

by Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Hans Christian Hennies, Matthias Schmuth
Published 2021-07-01

The Association of Residential Altitude on the Molecular Profile and Survival of Melanoma: Results of an Interreg Study

by Eleonora De Martino, Davide Brunetti, Vincenzo Canzonieri, Claudio Conforti, Klaus Eisendle, Guido Mazzoleni, Carla Nobile, Federica Rao, Johannes Zschocke, Emina Jukic, Wolfram Jaschke, Georg Weinlich, Bernhard Zelger, Matthias Schmuth, Giorgio Stanta, Fabrizio Zanconati, Iris Zalaudek, Serena Bonin
Published 2020-09-01

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

by Victoria K. Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Dominguez-Pinilla, Nerea Dominguez-Pinilla, Luis M. Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilencikova, Hagit N. Baris, Michaela H. M. Nathrath, Michaela H. M. Nathrath, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Iman Ragab, Amedeo A. Azizi, Soeren S. Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugieres, Mirjam van der Burg, Katharina Wimmer, Markus G. Seidel
Published 2018-07-01