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Academic Journal
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; Undiagnosed Diseases Network; Andrew L. Mammen; Matthew T. Wheeler; Anne O'Donnell‐Luria; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
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; LeShon 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; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
Janelle Geist Hauserman; Chamindra G. Laverty; Sandra Donkervoort; Ying Hu; Sarah Silverstein; Sarah B. Neuhaus; Dimah Saade; Gabrielle Vaughn; Denise Malicki; Rupleen Kaur; Yuesheng Li; Yan Luo; Poching Liu; Patrick Burr; A. Reghan Foley; Payam Mohassel; Carsten G. Bönnemann
HGG Advances, Vol 5, Iss 2, Pp 100274- (2024)
Academic Journal
Joshua J. Todd; Tokunbor A. Lawal; Irene C. Chrismer; Angela Kokkinis; Christopher Grunseich; Minal S. Jain; Melissa R. Waite; Victoria Biancavilla; Shavonne Pocock; Kia Brooks; Christopher J. Mendoza; Gina Norato; Ken Cheung; Willa Riekhof; Pooja Varma; Claudia Colina-Prisco; Magalie Emile-Backer; Katherine G. Meilleur; Andrew R. Marks; Yael Webb; Eugene E. Marcantonio; A. Reghan Foley; Carsten G. Bönnemann; Payam Mohassel
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Academic Journal
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. Bönnemann
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Academic Journal
Prech Uapinyoying; Marshall Hogarth; Surajit Battacharya; Davi A.G. Mázala; Karuna Panchapakesan; Carsten G. Bönnemann; Jyoti K. Jaiswal
iScience, Vol 26, Iss 8, Pp 107479- (2023)
Academic Journal
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. Bönnemann; J. Paul Taylor
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Academic Journal
Eleonora Guadagnin; Payam Mohassel; Kory R. Johnson; Lin Yang; Mariarita Santi; Prech Uapinyoying; Jahannaz Dastgir; Ying Hu; Allissa Dillmann; Mark R. Cookson; A. Reghan Foley; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2184-2198 (2021)
Academic Journal
Museer A. Lone; Mari J. Aaltonen; Aliza Zidell; Helio F. Pedro; Jonas A. Morales Saute; Shalett Mathew; Payam Mohassel; Carsten G. Bönnemann; Eric A. Shoubridge; Thorsten Hornemann
The Journal of Clinical Investigation, Vol 132, Iss 18 (2022)
Academic Journal
Dandan Tan; Lin Ge; Yanbin Fan; Xingzhi Chang; Shuang Wang; Cuijie Wei; Juan Ding; Aijie Liu; Shuo Wang; Xueying Li; Kai Gao; Haipo Yang; Chengli Que; Zhen Huang; Chunde Li; Ying Zhu; Bing Mao; Bo Jin; Ying Hua; Xiaoli Zhang; Bingbing Zhang; Wenhua Zhu; Cheng Zhang; Yanjuan Wang; Yun Yuan; Yuwu Jiang; Anne Rutkowski; Carsten G. Bönnemann; Xiru Wu; Hui Xiong
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
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[AR] Carsten G. Bönnemann
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