Universität zu Köln

Journal Article

Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol.-Genet., 4 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

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

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

Kaczmarek, Anna, Schneider, Svenja, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Riessland, Markus ORCID: 0000-0003-2592-5045 (2015). Investigational therapies for the treatment of spinal muscular atrophy. Expert Opin. Investig. Drugs, 24 (7). S. 867 - 882. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1744-7658

Wishart, Thomas M., Mutsaers, Chantal A., Riessland, Markus ORCID: 0000-0003-2592-5045, Reimer, Michell M., Hunter, Gillian, Hannam, Marie L., Eaton, Samantha L., Fuller, Heidi R., Roche, Sarah L., Somers, Eilidh, Morse, Robert, Young, Philip J., Lamont, Douglas J., Hammerschmidt, Matthias, Joshi, Anagha, Hohenstein, Peter ORCID: 0000-0001-8548-4734, Morris, Glenn E., Parson, Simon H., Skehel, Paul A., Becker, Thomas ORCID: 0000-0003-2578-0819, Robinson, Iain M., Becker, Catherina G., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Gillingwater, Thomas H. (2014). Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy. J. Clin. Invest., 124 (4). S. 1821 - 1835. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Kye, Min Jeong ORCID: 0000-0002-1323-7256, Niederst, Emily D., Wertz, Mary H., Goncalves, Ines do Carmo G., Akten, Bikem, Dover, Katarzyna Z., Peters, Miriam, Riessland, Markus ORCID: 0000-0003-2592-5045, Neveu, Pierre ORCID: 0000-0003-4939-3418, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Kosik, Kenneth S., Sardi, S. Pablo, Monani, Umrao R., Passini, Marco A. and Sahin, Mustafa (2014). SMN regulates axonal local translation via miR-183/mTOR pathway. Hum. Mol. Genet., 23 (23). S. 6318 - 6332. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

van Dijk, Fleur S., Zillikens, M. Carola, Micha, Dimitra ORCID: 0000-0001-7890-4411, Riessland, Markus ORCID: 0000-0003-2592-5045, Marcelis, Carlo L. M., de Die-Smulders, Christine E., Milbradt, Janine, Franken, Anton A., Harsevoort, Arjan J., Lichtenbelt, Klaske D., Pruijs, Hans E., Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M., Bakker, Astrid D., Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J., Verkerk, Annemieke J. M. H., Uitterlinden, Andre G., Maugeri, Alessandra, Sistermans, Erik A., Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Simon, Marleen E. H. and Pals, Gerard ORCID: 0000-0003-4091-7115 (2013). PLS3 Mutations in X-Linked Osteoporosis with Fractures. N. Engl. J. Med., 369 (16). S. 1529 - 1537. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

Mutsaers, Chantal A., Wishart, Thomas M., Lamont, Douglas J., Riessland, Markus ORCID: 0000-0003-2592-5045, Schreml, Julia, Comley, Laura H., Murray, Lyndsay M., Parson, Simon H., Lochmueller, Hanns, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Talbot, Kevin ORCID: 0000-0001-5490-1697 and Gillingwater, Thomas H. (2011). Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum. Mol. Genet., 20 (22). S. 4334 - 4345. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083