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2022
Luebben, Anna, V, Bender, Daniel ORCID: 0000-0002-2975-4186, Becker, Stefan, Crowther, Lisa M., Erven, Ilka ORCID: 0000-0002-1095-6861, Hofmann, Kay, Soeding, Johannes, Klemp, Henry ORCID: 0000-0002-3147-3017, Bellotti, Cristina ORCID: 0000-0002-3999-2807, Stauble, Andreas, Qiu, Tian, Kathayat, Rahul S., Dickinson, Bryan C., Gaertner, Jutta, Sheldrick, George M., Kraetzner, Ralph and Steinfeld, Robert (2022). Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. Sci. Adv., 8 (15). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548
2017
Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833