Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | Date | No Grouping
Number of items: 8.

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

Janzen, Eva, Wolff, Lisa, Mendoza-Ferreira, Natalia, Hupperich, Kristina, Delle Vedove, Andrea, Hosseinibarkooie, Seyyedmohsen, Kye, Min Jeong and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice. Front. Neurosci., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert (2020). Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromusc. Disord., 30 (7). S. 583 - 590. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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

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

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

Mendoza-Ferreira, Natalia (2018). Uncovering and Functional Analysis of Novel Genes and Potential Genetic Modifiers for Neuromuscular Disorders. PhD thesis, Universität zu Köln.

This list was generated on Sun Oct 17 05:40:52 2021 CEST.