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)