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Journal Article
Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique 
ORCID: 0000-0001-6593-7644, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hoelker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan and Wirth, Brunhilde
(2020).
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am. J. Hum. Genet., 107 (4).
S. 763 - 778.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Schorling, David C., Koelbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schara-Schmidt, Ulrike, Lochmuller, Hanns and Roos, Andreas
(2022).
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur. J. Neurol., 29 (7).
S. 2084 - 2097.
HOBOKEN:
WILEY.
ISSN 1468-1331
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