Universität zu Köln

Journal Article

Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Bueschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus ORCID: 0000-0003-2592-5045, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Clemen, Christoph S. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. Am. J. Hum. Genet., 99 (3). S. 647 - 666. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Janzen, Eva, Mendoza-Ferreira, Natalia, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Hupperich, Kristina, Tschanz, Theresa, Grysko, Vanessa, Riessland, Markus ORCID: 0000-0003-2592-5045, Hammerschmidt, Matthias, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Torres-Benito, Laura and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain, 141. S. 2343 - 2362. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian ORCID: 0000-0003-1693-9699, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am. J. Hum. Genet., 100 (2). S. 297 - 316. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Torres-Benito, Laura, Schneider, Svenja, Rombo, Roman, Ling, Karen K., Grysko, Vanessa, Upadhyay, Aaradhita, Kononenko, Natalia L., Rigo, Frank, Bennett, C. Frank and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice. Am. J. Hum. Genet., 105 (1). S. 221 - 231. CAMBRIDGE: CELL PRESS. ISSN 1537-6605