Janbernd Kirschner (Jan Kirschner)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 28

Top Venues

Journal of neurology

BMJ open

medRxiv : the preprint server for health sciences

Developmental medicine and child neurology

Universitätsklinikum Bonn

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

Affiliation History

Universitätsklinikum Bonn

Germany

Director :: Neuropediatrics

Medical Center - University of Freiburg

Germany

Interim Medical Director :: Neuropaediatrics and Muscle Disorders

Medical Center - University of Freiburg, Faculty of Medicine

Germany

Deputy Head of Department (Leitender Oberarzt) :: Neuropediatrics and Muscle Disorders

University Medical Center

Germany

Facharzt/Oberarzt :: Neuropediatrics and Muscle Disorders

Children's Hospital of Philadelphia Division of Neurology

United States

Postdoctoral Fellowship

Medical Center - University of Freiburg

Germany

Wissenschaftlicher Assistent :: Neuropediatrics and Muscle Disorders

Publications

Sylvia Martin, Emanuele Angolini, Jennifer Audi, Dr Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ open 14 (4) (2024)
Sylvia Martin, Emanuele Angolini, Jennifer Audi, Dr Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ open 14 (4) (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (2024)
Sylvia Martin, Emanuele Angolini, Jennifer Audi, Dr Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ open 14 (4) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (2024)
Sylvia Martin, Emanuele Angolini, Jennifer Audi, Dr Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ open 14 (4) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Sylvia Martin, Emanuele Angolini, Jennifer Audi, Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ open 14 (4) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Maryam Oskoui, John W Day, Nicolas Deconinck, Elena Stacy Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie M Goemans, Janbernd Kirschner, Maria Jędrzejowska, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri, null null
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of neurology (2023)
Maryam Oskoui, John W Day, Nicolas Deconinck, Elena Stacy Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie M Goemans, Janbernd Kirschner, Maria Jędrzejowska, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri, null null
Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA). Journal of neurology (2023)
Maryam Oskoui, John W Day, Nicolas Deconinck, Elena Stacy Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie M Goemans, Janbernd Kirschner, Maria Jędrzejowska, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri, null null
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of neurology (2023)
Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Janbernd Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PloS one 18 (11) (2023)
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Silvio Bertini, Paul Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie A Parsons, Astrid Pechmann, Monique M Ryan, Russell J Butterfield, Haluk A Topaloglu, Tawfeg Ben-Omran, Valeria Ada Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, Angela D Paradis, Richard Foster, Russell Chin, Zdenek Berger, null null
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & nerve (2023)
Eugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, Liesbeth De Waele, Nathalie Goemans, Janbernd Kirschner, Riccardo Masson, Elena S Mazzone, Astrid Pechmann, Maria Carmela Pera, Carole Vuillerot, Silvia Bader-Weder, Marianne Gerber, Ksenija Gorni, Janine Hoffart, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S Scalco, Wai Yin Yeung, Laurent Servais, null null
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment. European journal of neurology (2022)
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Inge Schwersenz, Maggie C Walter, Matthias Baumann, Manuela Baumgartner, Marcus Deschauer, Astrid Eisenkölbl, Marina Flotats-Bastardas, Andreas Hahn, Veronka Horber, Ralf A Husain, Sabine Illsinger, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Eva Stögmann, Regina Trollmann, Katharina Vill, Claudia Weiß, Gert Wiegand, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, null null
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain : a journal of neurology (2022)
David C Schorling, Heike Kölbel, Andreas Hentschel, Astrid Pechmann, Nancy Meyer, Brunhilde Wirth, Roman Rombo, null null, Albert Sickmann, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Andreas Roos
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. European journal of neurology 29 (7) (2022)
Drew MacCannell, Zdenek Berger, Janbernd Kirschner, Eugenio Mercuri, Michelle Anne Farrar, Susan T Iannaccone, Nancy L Kuntz, Richard S Finkel, Marta Valente, Francesco Muntoni
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model. CNS drugs 36 (2) (2022)
Janbernd Kirschner
Postnatal gene therapy for neuromuscular diseases - opportunities and limitations. Journal of perinatal medicine 49 (8) (2021)
Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible, Janbernd Kirschner
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet journal of rare diseases 14 (1) (2019)
Erik Landfeldt, Josefin Edström, Filippo Buccella, Janbernd Kirschner, Hanns Lochmüller
Duchenne muscular dystrophy and caregiver burden: a systematic review. Developmental medicine and child neurology 60 (10) (2018)
Thorsten Langer, Janbernd Kirschner
Outcomes in Duchenne muscular dystrophy: nature, nurture, culture-or all three? Developmental medicine and child neurology 59 (8) (2017)

Janbernd Kirschner.css-eqlu8i{font-size:small;padding-left:4px;} (Jan Kirschner)

Publication Activity (10 Years)

Top Topics

Top Venues

Janbernd Kirschner (Jan Kirschner)