Research output per year
Research output per year
Search results
-
2022
Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish
Tuschl, K., White, R. J., Trivedi, C., Valdivia, L. E., Niklaus, S., Bianco, I. H., Dadswell, C., González-Méndez, R., Sealy, I. M., Neuhauss, S. C. F., Houart, C., Rihel, J., Wilson, S. W. & Busch-Nentwich, E. M., Jun 2022, In: DMM Disease Models and Mechanisms. 15, 6, dmm044594.Research output: Contribution to journal › Article › peer-review
Open Access6 Citations (Scopus) -
2020
Hypermanganesemia with Dystonia 1: A Novel Mutation and Response to Iron Supplementation
Yapici, Z., Tuschl, K. & Eraksoy, M., 1 Jan 2020, In: Movement Disorders Clinical Practice. 7, 1, p. 94-96 3 p.Research output: Contribution to journal › Article › peer-review
10 Citations (Scopus) -
2019
Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography
Baguña Torres, J., Yu, Z., Bordoloi, J., Sunassee, K., Smith, D., Smith, C., Chen, O., Purchase, R., Tuschl, K., Spencer, J., Platt, F. & Blower, P. J., 1 Apr 2019, In: Biometals. 32, 2, p. 293-306 14 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)203 Downloads (Pure) -
2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia
Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., Gregory, A., Sanford, L., Kara, E., Houlden, H., Cuno, S. M., Prokisch, H., Valletta, L. & Tiranti, V. & 20 others, , 27 May 2016, In: Nature Communications. 7, 11601.Research output: Contribution to journal › Article › peer-review
Open AccessFile233 Citations (Scopus)235 Downloads (Pure) -
2014
Cholestenoic acids regulate motor neuron survival via liver X receptors
Theofilopoulos, S., Griffiths, W. J., Crick, P. J., Yang, S., Meljon, A., Ogundare, M., Kitambi, S. S., Lockhart, A., Tuschl, K., Clayton, P. T., Morris, A. A., Martinez, A., Reddy, M. A., Martinuzzi, A., Bassi, M. T., Honda, A., Mizuochi, T., Kimura, A., Nittono, H. & De Michele, G. & 16 others, , 3 Nov 2014, In: Journal of Clinical Investigation. 124, 11, p. 4829-4842 14 p.Research output: Contribution to journal › Article › peer-review
Open Access80 Citations (Scopus)