Markus Schuelke (M Schuelke, Markus Schülke)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 46

Top Venues

Neuropathology and applied neurobiology

Proceedings of the National Academy of Sciences of the United States of America

Nature genetics

Nature communications

Charité Universitätsmedizin Berlin

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

Affiliation History

Charité Universitätsmedizin Berlin Jan 01 1996

Germany

Professor :: Neuropediatrics

Publications

Ingeborg Viezens, Ellen Knierim, Hedwig E Deubzer, Kathrin Hauptmann, Jessica Fassbender, Susanne Morales-Gonzalez, Angela M Kaindl, Markus Schuelke, Marc Nikolaus
Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease. Cancers 16 (13) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Nina-Maria Wilpert, Markus Schuelke, Birgit Lala, Claudia Weiß
A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1 : Almost Overlooked. Neurology 102 (11) (2024)
Nina-Maria Wilpert, Roma Thamm, Michael Thamm, Jürgen Kratzsch, Dominik Seelow, Mandy Vogel, Heiko Krude, Markus Schuelke
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay. International journal of molecular sciences 25 (16) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Nina-Maria Wilpert, Roma Thamm, Michael Thamm, Jürgen Kratzsch, Dominik Seelow, Mandy Vogel, Heiko Krude, Markus Schuelke
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay. International journal of molecular sciences 25 (16) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Nina-Maria Wilpert, Markus Schuelke, Birgit Lala, Claudia Weiß
A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1 : Almost Overlooked. Neurology 102 (11) (2024)
Ingeborg Viezens, Ellen Knierim, Hedwig E Deubzer, Kathrin Hauptmann, Jessica Fassbender, Susanne Morales-Gonzalez, Angela M Kaindl, Markus Schuelke, Marc Nikolaus
Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease. Cancers 16 (13) (2024)
Fabian Dannenberg, Arpad Von Moers, Petra Bittigau, Jörn Lange, Sylvia Wiegand, Ferenc Török, Gabriel Stölting, Alexandra Pinggera, M Mahdi Motazacker, Marjoleine F Broekema, Markus Schuelke, Angela M Kaindl, Ute I Scholl, Nadine Jasmin Ortner
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia. Neurology. Genetics 10 (5) (2024)
Adrien Morin, Amalia Stantzou, Olga N Petrova, John C W Hildyard, Thomas Tensorer, Meriem Matouk, Mina V Petkova, Isabelle Richard, Tudor Manoliu, Aurelie T Goyenvalle, Sestina Falcone, Markus Schuelke, Corinne Laplace-Builhé, Richard J Piercy, Luis Garcia, Helge Amthor
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America 120 (2) (2023)
Sofia Schnell, Ellen Knierim, Petra Bittigau, Jakob Kreye, Kathrin Hauptmann, Patrick Hundsdoerfer, Susanne Morales-Gonzalez, Markus Schuelke, Marc Nikolaus
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease. Cells 12 (4) (2023)
Adrien Morin, Amalia Stantzou, Olga N Petrova, John C W Hildyard, Thomas Tensorer, Meriem Matouk, Mina V Petkova, Isabelle Richard, Tudor Manoliu, Aurelie T Goyenvalle, Sestina Falcone, Markus Schuelke, Corinne Laplace-Builhé, Richard J Piercy, Luis Garcia, Helge Amthor
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America 120 (2) (2023)
Adrien Morin, Amalia Stantzou, Olga N Petrova, John C W Hildyard, Thomas Tensorer, Meriem Matouk, Mina V Petkova, Isabelle Richard, Tudor Manoliu, Aurelie T Goyenvalle, Sestina Falcone, Markus Schuelke, Corinne Laplace-Builhé, Richard J Piercy, Luis Garcia, Helge Amthor
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America 120 (2) (2023)
Nina-Maria Wilpert, Davide Tonduti, Ylenia Vaia, Heiko Krude, Catherine Sarret, Markus Schuelke
Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review. Neuropsychiatric disease and treatment 19 (2023)
Nina-Maria Wilpert, Ana Luisa de A Marcelino, Ellen Knierim, Pasquale Incoronato, Elisa Sanchez-Sendin, Olga Staudacher, Anne Drenckhahn, Petra Bittigau, Jakob Kreye, Harald Prüss, Markus Schuelke, Andrea A Kühn, Angela M Kaindl, Marc Nikolaus
Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2. Journal of neurology (2023)
Sofia Schnell, Ellen Knierim, Petra Bittigau, Jakob Kreye, Kathrin Hauptmann, Patrick Hundsdoerfer, Susanne Morales-Gonzalez, Markus Schuelke, Marc Nikolaus
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease. Cells 12 (4) (2023)
Felix Kleefeld, Andreas Hentschel, Arpad von Moers, Katrin Hahn, Rita Horvath, Hans-Hilmar Goebel, Andreas Roos, Jens Schallner, Markus Schuelke, Andreas Roos, Werner Stenzel
Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis. Neuropathology and applied neurobiology (2023)
Adrien Morin, Amalia Stantzou, Olga N Petrova, John C W Hildyard, Thomas Tensorer, Meriem Matouk, Mina V Petkova, Isabelle Richard, Tudor Manoliu, Aurelie T Goyenvalle, Sestina Falcone, Markus Schuelke, Corinne Laplace-Builhé, Richard J Piercy, Luis Garcia, Helge Amthor
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America 120 (2) (2023)
Ellen Knierim, Johannes Vogt, Michael Kintscher, Alexey Ponomarenko, Jan Baumgart, Prateep Beed, Tatiana Korotkova, Thorsten Trimbuch, Axel Panzer, Ortrud K Steinlein, Ulrich Stephani, Andrew Escayg, Mahmoud E Koko, Yuanyuan Liu, Holger Lerche, Dietmar Schmitz, Robert Nitsch, Markus Schuelke
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype. Cerebral cortex (New York, N.Y. : 1991) (2023)
Adrien Morin, Amalia Stantzou, Olga N Petrova, John C W Hildyard, Thomas Tensorer, Meriem Matouk, Mina V Petkova, Isabelle Richard, Tudor Manoliu, Aurelie T Goyenvalle, Sestina Falcone, Markus Schuelke, Corinne Laplace-Builhé, Richard J Piercy, Luis Garcia, Helge Amthor
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America 120 (2) (2023)
Sofia Schnell, Ellen Knierim, Petra Bittigau, Jakob Kreye, Kathrin Hauptmann, Patrick Hundsdoerfer, Susanne Morales-Gonzalez, Markus Schuelke, Marc Nikolaus
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease. Cells 12 (4) (2023)
Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William J H Griffiths, Eckart Schott, Markus Schuelke, Dennis Eurich, Albert Friedrich Stättermayer, Adrian Bomford, Pierre Foskett, Julia Vodopiutz, Katharina Staufer, Elke Pertler, Bernhard Morell, Herbert Tilg, Thomas Müller, Stefan Kiechl, Raul Jimenez Heredia, Karl Heinz Weiss, Si Houn Hahn, Andreas Janecke, Peter Ferenci, Heinz Zoller
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease. Hepatology communications 6 (7) (2022)
Henrik Sadlowski, Veronika Schmidt, Jonathan Hiss, Johannes A Kuehn, Christian G Schneider, Gideon Zulu, Alex Hachangu, Chummy S Sikasunge, Kabemba E Mwape, Andrea S Winkler, Markus Schuelke
Diagnosis of Taenia solium infections based on "mail order" RNA-sequencing of single tapeworm egg isolates from stool samples. PLoS neglected tropical diseases 15 (12) (2021)
Sarah Paisdzior, Ellen Knierim, Gunnar Kleinau, Heike Biebermann, Heiko Krude, Rachel Straussberg, Markus Schuelke
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2. International journal of molecular sciences 22 (10) (2021)
Robin Steinhaus, Sebastian Proft, Markus Schuelke, David N Cooper, Jana Marie Schwarz, Dominik Seelow
MutationTaster2021. Nucleic acids research 49 (W1) (2021)
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of inherited metabolic disease 44 (4) (2021)
Felix Kleefeld, Anja von Renesse, Carsten Dittmayer, Lutz Harms, Josefine Radke, Helena Radbruch, Hans-Hilmar Goebel, Florence Pache, Udo Schneider, Markus Schuelke, Akinori Uruha, Werner Stenzel
Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason. Neuropathology and applied neurobiology (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)
Heike Kölbel, Corinna Preuße, Lukas Brand, Arpad von Moers, Adela Della Marina, Markus Schuelke, Andreas Roos, Hans-Hilmar Goebel, Ulrike Schara-Schmidt, Werner Stenzel
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages. Neuropathology and applied neurobiology 47 (6) (2021)
Markus Buelow, David Süßmuth, Laurie D Smith, Omid Aryani, Claudia Castiglioni, Werner Stenzel, Enrico Bertini, Markus Schuelke, Ellen Knierim
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum. European journal of human genetics : EJHG 29 (7) (2021)
C Y Lee, M V Petkova, S Morales-Gonzalez, N Gimber, J Schmoranzer, A Meisel, W Böhmerle, Werner Stenzel, Markus Schuelke, J M Schwarz
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. Neuropathology and applied neurobiology 46 (6) (2020)
M V Petkova, Amalia Stantzou, Adrien Morin, O Petrova, S Morales-Gonzalez, F Seifert, J Bellec-Dyevre, Tudor Manoliu, Aurelie T Goyenvalle, L Garcia, Isabelle Richard, Corinne Laplace-Builhé, Markus Schuelke, Helge Amthor
Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy. Neuropathology and applied neurobiology 46 (6) (2020)
Amalia Stantzou, K Relizani, Susanne Morales-Gonzalez, C Gallen, A Grassin, A Ferry, Markus Schuelke, Helge Amthor
Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle. Neuropathology and applied neurobiology 47 (2) (2020)
Neal K Bennett, Mai K Nguyen, Maxwell A Darch, Hiroki J Nakaoka, Derek Cousineau, Johanna Ten Hoeve, Thomas Glen Graeber, Markus Schuelke, Emin Maltepe, Martin Edward Kampmann, Bryce A Mendelsohn, Jean L Nakamura, Ken Nakamura
Defining the ATPome reveals cross-optimization of metabolic pathways. Nature communications 11 (1) (2020)
Andreas Marg, Helena Escobar, Nikos Karaiskos, Stefanie Anke Grunwald, Eric Metzler, Janine Kieshauer, Sascha Sauer, Diana Pasemann, Edoardo Malfatti, Dominique Mompoint, Susanna Quijano-Roy, Anastasiya Boltengagen, Joanna Schneider, Markus Schuelke, Séverine Kunz, Robert Carlier, Carmen Birchmeier, Helge Amthor, Andreas Spuler, Christine Kocks, Nikolaus Rajewsky, Simone Spuler
Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7. Nature communications 10 (1) (2019)
Mykola Kadobianskyi, Lisanne Schulze, Markus Schuelke, Benjamin Judkewitz
Hybrid genome assembly and annotation of Danionella translucida. Scientific data 6 (1) (2019)
Daniela Hombach, Jana Marie Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Koehler
Phenotero: Annotate as you write. Clinical genetics 95 (2) (2018)
Lisanne Schulze, Jörg Henninger, Mykola Kadobianskyi, Thomas Chaigne, Ana Isabel Faustino, Nahid Hakiy, Shahad Albadri, Markus Schuelke, Leonard Maler, Filippo Del Bene, Benjamin Judkewitz
Transparent Danionella translucida as a genetically tractable vertebrate brain model. Nature methods 15 (11) (2018)
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. Journal of medical genetics 56 (3) (2018)
Ellen Knierim, Esther Gill, Franziska Seifert, Susanne Morales-Gonzalez, Sathya D Unudurthi, Thomas J Hund, Werner Stenzel, Markus Schuelke
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Human genetics 136 (7) (2017)
Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing-Huang Gao, Emanuele Barca, Maria J Sanchez-Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina Maria Quinzii
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. EMBO molecular medicine 9 (1) (2017)
Marta Luna-Sánchez, Agustín Hidalgo-Gutiérrez, Tatjana M Hildebrandt, Julio Chaves-Serrano, Eliana Barriocanal-Casado, Ángela Santos-Fandila, Miguel Romero, Ramy Ka Sayed, Juan Duarte, Holger Prokisch, Markus Schuelke, Felix Distelmaier, Germaine Escames, Darío Acuña-Castroviejo, Luis Carlos López
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome. EMBO molecular medicine 9 (1) (2017)
Mina V Petkova, Susanne Morales-Gonzales, Karima Relizani, Esther Gill, Franziska Seifert, Josefine Radke, Werner Stenzel, Luis Garcia, Helge Amthor, Markus Schuelke
Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression. Skeletal muscle 6 (2016)
Rachel Straussberg, Gudrun Schottmann, Menachem Sadeh, Esther Gill, Franziska Seifert, Ayelet Halevy, Kaiyal Qassem, John Rendu, Peter F M van der Ven, Werner Stenzel, Markus Schuelke
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta neuropathologica 132 (3) (2016)

Markus Schuelke.css-eqlu8i{font-size:small;padding-left:4px;} (M Schuelke, Markus Schülke)

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Markus Schuelke (M Schuelke, Markus Schülke)