Weber, J., Golla, M., Guaitoli, G., Wanichawan, P., Hayer, S., Hauser, S., … Hübener-Schmid, J. (2017). A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. Brain : A Journal of Neurology, 140(5), 1280-1299. https://doi.org/10.1093/brain/awx039 (Original work published 2017)
L Schöls
First name:
L
Last name:
Schöls
Newton, T., Allison, R., , Lumb, J., Rodger, C., Manna, P., … Reid, E. (2018). Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. Brain : A Journal of Neurology, 141(5), 1286-1299. https://doi.org/10.1093/brain/awy034 (Original work published 2018)
Schoenmakers, D., Beerepoot, S., van den Berg, S., Adang, L., Bley, A., Boelens, J., … Wolf, N. (2022). Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi). Orphanet Journal of Rare Diseases, 17(1), 48. https://doi.org/10.1186/s13023-022-02189-w (Original work published 2022)