Carsten G Bonnemann (Carsten Bönnemann, Carsten G Bönnemann, Carsten Bonnemann)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 71

Top Venues

bioRxiv : the preprint server for biology

medRxiv : the preprint server for health sciences

Neurology

Nature genetics

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

Publications

Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Veronique Bolduc, Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull, Matthew Nalls, Jun Cheng, Lisa Garrett, Carsten G Bonnemann
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant. bioRxiv : the preprint server for biology (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)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics (2024)
Veronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory Johnson, Carsten G Bonnemann
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy. bioRxiv : the preprint server for biology (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Veronique Bolduc, Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull, Matthew Nalls, Jun Cheng, Lisa Garrett, Carsten G Bonnemann
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant. bioRxiv : the preprint server for biology (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)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
A Reghan Foley, Pomi Yun, Meganne E Leach, Sarah B Neuhaus, Gilberto V Averion, Ying Hu, Leslie H Hayes, Sandra Donkervoort, Minal S Jain, Melissa Waite, Rebecca Parks, Diana X Bharucha-Goebel, Oscar H Mayer, Yaqun Zou, Margaret Fink, Jameice DeCoster, Christopher Mendoza, Cynthia Arévalo, Rudolf Hausmann, Diana Petraki, Ying-Kuen Cheung, Carsten G Bonnemann
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy. Neurology. Genetics 10 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Veronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory Johnson, Carsten G Bonnemann
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy. bioRxiv : the preprint server for biology (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Veronique Bolduc, Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull, Matthew Nalls, Jun Cheng, Lisa Garrett, Carsten G Bonnemann
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant. bioRxiv : the preprint server for biology (2024)
A Reghan Foley, Pomi Yun, Meganne E Leach, Sarah B Neuhaus, Gilberto V Averion, Ying Hu, Leslie H Hayes, Sandra Donkervoort, Minal S Jain, Melissa Waite, Rebecca Parks, Diana X Bharucha-Goebel, Oscar H Mayer, Yaqun Zou, Margaret Fink, Jameice DeCoster, Christopher Mendoza, Cynthia Arévalo, Rudolf Hausmann, Diana Petraki, Ying-Kuen Cheung, Carsten G Bonnemann
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy. Neurology. Genetics 10 (3) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (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)
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)
Veronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory Johnson, Carsten G Bonnemann
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy. bioRxiv : the preprint server for biology (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (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)
Veronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory Johnson, Carsten G Bonnemann
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy. bioRxiv : the preprint server for biology (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Veronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory Johnson, Carsten G Bonnemann
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy. bioRxiv : the preprint server for biology (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Veronique Bolduc, Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull, Matthew Nalls, Jun Cheng, Lisa Garrett, Carsten G Bonnemann
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant. bioRxiv : the preprint server for biology (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (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)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine (2024)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Cristiane de Araújo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten G Bonnemann, Edmar Zanoteli
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. Neurology. Genetics 9 (1) (2023)
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J Bradley, Sandra Donkervoort, Soledad Monges, Julie S Cohen, Doris G Leung, Francina Munell, Carlos Ortez, Angel Sánchez-Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A Reghan Foley, Bjarne Udd, Andrew E Arai, Glenn A Walter, Carsten G Bonnemann
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy. Annals of clinical and translational neurology (2023)
Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, Jasmine Robinson, Karina Kinghorn, J Ashley Ezzell, Diana Bharucha-Goebel, Carsten G Bonnemann, Jody E Hooper, Puneet Opal, Thomas W Bouldin, Diane Armao, Natasha Snider
Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN). bioRxiv : the preprint server for biology (2023)
Ruby M Lam, Lars J von Buchholtz, Melanie Falgairolle, Jennifer Osborne, Eleni Frangos, M Rocio Servin-Vences, Maximilian Nagel, Minh Q Nguyen, Monessha Jayabalan, Dimah Saade, Ardem Patapoutian, Carsten G Bonnemann, Nicholas J P Ryba, Alexander T Chesler
PIEZO2 and perineal mechanosensation are essential for sexual function. Science (New York, N.Y.) 381 (6660) (2023)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bonnemann
Collagen type VI regulates TGFβ bioavailability in skeletal muscle. bioRxiv : the preprint server for biology (2023)
Cristiane de Araújo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten G Bonnemann, Edmar Zanoteli
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy. Neurology. Genetics 9 (1) (2023)
Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G Konersman, Angela M Kaindl, Chie-Hee Cho, Bianca E Russell, Adrian Rodriguez, K Wade Foster, A Reghan Foley, Steven A Moore, Peter L Jones, Carsten G Bonnemann, Takako Jones, Natalie D Shaw
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. Neurology 98 (13) (2022)
Payam Mohassel, Eleonora Guadagnin, Carsten G Bonnemann
Attribution of original contribution in large datasets in the era of multi-omic studies. Annals of clinical and translational neurology 9 (6) (2022)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Stacha F I Reumers, Frederik Braun, Jennifer L Spillane, Johann Böhm, Maartje Pennings, Meyke Schouten, Anneke J van der Kooi, A Reghan Foley, Carsten G Bonnemann, Erik-Jan Kamsteeg, Corrie E Erasmus, Ulrike Schara-Schmidt, Heinz Jungbluth, Nicol C Voermans
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. Neurology 97 (5) (2021)
Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H Beggs, Carsten G Bonnemann, Michael Brudno, Andrei Constantinescu, Jahannaz Dastgir, Mamadou Diallo, Casie A Genetti, Michael Glueck, Stacy Hewson, Courtney Hum, Minal S Jain, Michael W Lawlor, Oscar H Meyer, Leslie L Nelson, Nicole Sultanum, Faiza Syed, Tuyen Tran, Ching H Wang, James J Dowling
A Cross-Sectional Study of Nemaline Myopathy. Neurology 96 (10) (2021)
Payam Mohassel, Sandra Donkervoort, Museer A Lone, Matthew Nalls, Kenneth Gable, Sita D Gupta, A Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R Nickolls, Naemeh Pourshafie, Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Helio Pedro, Eric Mittelmann, Florian Patrick Thomas, Katherine R Chao, Chamindra G Konersman, Megan T Cho, Tracy Brandt, Volker Straub, Anne M Connolly, Ulrike Schara, Andreas Roos, Mark Tarnopolsky, Ahmet Hoke, Robert H Brown, Chia-Hsueh Lee, Thorsten Hornemann, Teresa M Dunn, Carsten G Bonnemann
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nature medicine 27 (7) (2021)
A Reghan Foley, Yaqun Zou, James E Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong, Volker Straub, Thomas Voit, Norma Romero, Sandra Donkervoort, Ying Hu, Thomas Markello, Adam Horn, Leila Qebibo, Jahannaz Dastgir, Katherine G Meilleur, Richard S Finkel, Yanbin Fan, Kamel Mamchaoui, Stephanie Duguez, Isabelle Nelson, Jocelyn Laporte, Mariarita Santi, Edoardo Malfatti, Thierry Maisonobe, Philippe Touraine, Michio Hirano, Imelda Hughes, Kate Bushby, Udo Oppermann, Johann Böhm, Jyoti K Jaiswal, Tanya Stojkovic, Carsten G Bonnemann
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Annals of neurology 88 (2) (2020)
Rocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, Victoria Gonzalez, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, Maria Luz Cuadrado, Marianne de Visser, Isabelle Desguerre, Bruno Eymard, Nathalie M Goemans, Angela Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, Michèle Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A Salih, Beate Schlotter-Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloglu, J Andoni Urtizberea, Anneke van der Kooi, Ekkehard Wilichowski, Norma B Romero, Michel Fardeau, Carsten G Bonnemann, Brigitte Estournet, Pascale Richard, Susana Quijano-Roy, Ulrike Schara, Ana Ferreiro
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Neurology 95 (11) (2020)
Joshua J Todd, Tokunbor A Lawal, Jessica W Witherspoon, Irene C Chrismer, Muslima S Razaqyar, Monal Punjabi, Jeffrey S Elliott, Fatoumata Tounkara, Anna Kuo, Monique O Shelton, Carolyn Allen, Mary M Cosgrove, Melody Linton, Darren Michael, Minal S Jain, Melissa Waite, Bart Drinkard, Paul G Wakim, James J Dowling, Carsten G Bonnemann, Magalie Emile-Backer, Katherine G Meilleur
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies. Neurology 94 (13) (2020)
Prech Uapinyoying, Jeremy Goecks, Susan M Knoblach, Karuna Panchapakesan, Carsten G Bonnemann, Terence A Partridge, Jyoti K Jaiswal, Eric P Hoffman
A long-read RNA-seq approach to identify novel transcripts of very large genes. Genome research 30 (6) (2020)
Alec R Nickolls, Michelle M Lee, Kristen Zukosky, Barbara S Mallon, Carsten G Bonnemann
Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies. Disease models & mechanisms 13 (6) (2020)
Marcin Szczot, Jaquette Liljencrantz, Nima Ghitani, Arnab Barik, Ruby M Lam, James H Thompson, Diana Bharucha-Goebel, Dimah Saade, Aaron Necaise, Sandra Donkervoort, A Reghan Foley, Taylor Gordon, M Catherine Bushnell, M Catherine Bushnell, Carsten G Bonnemann, Alexander T Chesler
PIEZO2 mediates injury-induced tactile pain in mice and humans. Science translational medicine 10 (462) (2019)
Benjamin T Cocanougher, Lauren Flynn, Pomi Yun, Minal Jain, Melissa Waite, Ruhi Vasavada, Jason D Wittenbach, Sabine de Chastonay, Sameer Chhibber, A Micheil Innes, Linda MacLaren, Tahseen Mozaffar, Andrew E Arai, Sandra Donkervoort, Carsten G Bonnemann, A Reghan Foley
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. Neurology 93 (16) (2019)
Saad S Nagi, Andrew G Marshall, Adarsh Makdani, Ewa Jarocka, Jaquette Liljencrantz, Mikael Ridderström, Sumaiya Shaikh, Francis O'Neill, Dimah Saade, Sandra Donkervoort, A Reghan Foley, Jan Minde, Mats Trulsson, Jonathan Cole, Carsten G Bonnemann, Alexander T Chesler, M Catherine Bushnell, Francis McGlone, Håkan Olausson
An ultrafast system for signaling mechanical pain in human skin. Science advances 5 (7) (2019)
Pejman Mohammadi, Stephane E Castel, Beryl B Cummings, Jonah Einson, Christina Sousa, Paul J Hoffman, Sandra Donkervoort, Zhuoxun Jiang, Payam Mohassel, A Reghan Foley, Heather E Wheeler, Hae Kyung Im, Carsten G Bonnemann, Daniel G MacArthur, Tuuli Lappalainen
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science (New York, N.Y.) 366 (6463) (2019)
Minal S Jain, Katherine Meilleur, Eunhee Kim, Gina Norato, Melissa Waite, Leslie Nelson, Michelle McGuire, Tina Duong, Katherine Keller, Donovan J Lott, Allan Glanzman, Kristy Rose, Marion Main, Courtney Fiorini, Irene Chrismer, Melody Linton, Monal Punjabi, Jeffrey Elliott, Fatoumata Tounkara, Ruhi Vasavada, Ranjani Logaraj, Jocelyn Winkert, Sandra Donkervoort, Meganne Leach, Jahannaz Dastgir, Linda S Hynan, Carmel Nichols, Elizabeth Hartnett, Gilberto M Averion, James C Collins, Eunice S Kim, Angela Kokkinis, Alice Schindler, Kristen Zukosky, Robert Fee, Veronica Hinton, Payam Mohassel, Diana Bharucha-Goebel, Carole Vuillerot, Peter McGraw, Mark Barton, Joseph Fontana, Anne Rutkowski, A Reghan Foley, Carsten G Bonnemann
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. Neurology 93 (21) (2019)
Alec R Nickolls, Carsten G Bonnemann
The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy. Disease models & mechanisms 11 (12) (2018)
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan D Gonorazky, Kristl Claeys, Himanshu Joshi, Adam M Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, null null, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine 9 (386) (2017)

Carsten G Bonnemann.css-eqlu8i{font-size:small;padding-left:4px;} (Carsten Bönnemann, Carsten G Bönnemann, Carsten Bonnemann)

Publication Activity (10 Years)

Top Topics

Top Venues

Carsten G Bonnemann (Carsten Bönnemann, Carsten G Bönnemann, Carsten Bonnemann)