Thorsten Marquardt

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 16

Top Topics

Molecular Dynamics Simulations

Systematic Review

Top Venues

Science translational medicine

The New England journal of medicine

American journal of medical genetics. Part A

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

Publications

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Tatiana Bremova-Ertl, Uma Ramaswami, Marion M M G Brands, Tomas Foltan, Matthias Gautschi, Paul Gissen, Francesca Gowing, Andreas Hahn, Simon Jones, Richard Kay, Miriam Kolnikova, Laila Arash-Kaps, Thorsten Marquardt, Karl Eugen Mengel, Julien H Park, Stella Reichmannová, Susanne A Schneider, Siyamini Sivananthan, Mark Walterfang, Pierre Wibawa, Michael Leo Strupp, Kyriakos Martakis
Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C. The New England journal of medicine 390 (5) (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Marius Frenser, Tobias Fischer, Isabel Albrecht, Thorsten Marquardt
Influence of Carbohydrate Intake on Caprylic Acid (C8:0)-Induced Ketogenesis-A Systematic Review and Meta-Analysis. Nutrients 16 (15) (2024)
Tatiana Bremova-Ertl, Uma Ramaswami, Marion M M G Brands, Tomas Foltan, Matthias Gautschi, Paul Gissen, Francesca Gowing, Andreas Hahn, Simon Jones, Richard Kay, Miriam Kolnikova, Laila Arash-Kaps, Thorsten Marquardt, Karl Eugen Mengel, Julien H Park, Stella Reichmannová, Susanne A Schneider, Siyamini Sivananthan, Mark Walterfang, Pierre Wibawa, Michael Leo Strupp, Kyriakos Martakis
Trial of N -Acetyl-l-Leucine in Niemann-Pick Disease Type C. The New England journal of medicine 390 (5) (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Marius Frenser, Tobias Fischer, Isabel Albrecht, Thorsten Marquardt
Influence of Carbohydrate Intake on Caprylic Acid (C8:0)-Induced Ketogenesis-A Systematic Review and Meta-Analysis. Nutrients 16 (15) (2024)
Marius Frenser, Tobias Fischer, Isabel Albrecht, Thorsten Marquardt
Influence of Carbohydrate Intake on Caprylic Acid (C8:0)-Induced Ketogenesis-A Systematic Review and Meta-Analysis. Nutrients 16 (15) (2024)
Anja Penkl, Janine Reunert, Otfried M Debus, Anna Homann, Ulrike Och, Stephan Rust, Thorsten Marquardt
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy. American journal of medical genetics. Part A (2021)
Roman Taday, Julien H Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Mannose supplementation in PMM2-CDG. Orphanet journal of rare diseases 16 (1) (2021)
Robert G Mealer, Bruce G Jenkins, Chia-Yen Chen, Mark J Daly, Tian Ge, Sylvain Lehoux, Thorsten Marquardt, Christopher D Palmer, Julien H Park, Patrick J Parsons, Robert Sackstein, Sarah E Williams, Richard D Cummings, Edward M Scolnick, Jordan W Smoller
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation. Scientific reports 10 (1) (2020)
Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, Ruth E Bettels, Jörg Große-Onnebrink, Christian Schmalstieg, Saskia Biskup, Janine Reunert, Stephan Rust, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents. Journal of medical genetics 58 (4) (2020)
Sabine Dittner-Moormann, Charles Marques Lourenco, Janine Reunert, Ryuichi Nishinakamura, Satomi S Tanaka, Claudius Werner, Volker Debus, Klaus-Peter Zimmer, Gabriele Wetzel, Hassan Y Naim, Yoshinao Wada, Stephan Rust, Thorsten Marquardt
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms. Journal of medical genetics 58 (3) (2020)
Janine Reunert, Alijda van den Heuvel, Stephan Rust, Thorsten Marquardt
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. American journal of medical genetics. Part A 185 (3) (2020)
Julien H Park, Robert G Mealer, Abdallah F Elias, Susanne Hoffmann, Marianne Grüneberg, Saskia Biskup, Manfred Fobker, Jaclyn Haven, Ute Mangels, Janine Reunert, Stephan Rust, Jonathan Schoof, Corbin Schwanke, Jordan W Smoller, Richard D Cummings, Thorsten Marquardt
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency. Journal of inherited metabolic disease 43 (6) (2020)
Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG). Orphanet journal of rare diseases 15 (1) (2020)