![]() | Up a level |
Journal Article
Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2017).
Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.
Expert Rev. Proteomics, 14 (7).
S. 581 - 593.
ABINGDON:
TAYLOR & FRANCIS LTD.
ISSN 1744-8387
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
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
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
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
Upadhyay, Aaradhita, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Kaczmarek, Anna, Torres-Benito, Laura, Mendoza-Ferreira, Natalia, Overhoff, Melina, Rombo, Roman, Grysko, Vanessa, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Kononenko, Natalia L. and Wirth, Brunhilde
ORCID: 0000-0003-4051-5191
(2019).
Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.
Front. Molec. Neurosci., 12.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1662-5099
Thesis Abstract
Schneider, Svenja (2017). Identification and Characterization of Spinal Muscular Atrophy (SMA) Modifiers - Insights from Cellular and Vertebrate Disease Models. Thesis Abstract, Universität zu Köln.