Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients with Cerebellar Ataxia

Ghorbani, F., De Boer, E. N., Benjamins-Stok, M., Verschuuren-Bemelmans, C. C., Knapper, J., De Boer-Bergsma, J., De Vries, J. J., Sikkema-Raddatz, B., Verbeek, D. S., Westers, H. & Van Diemen, C. C., 2-feb.-2023, In: Neurology: Genetics. 9, 1, e200050.

Onderzoeksoutput › Academic › peer review

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group, Hengel, H., Martus, P., Faber, J., Giunit, P., Garcia-Moreno, H., Solanky, N., Klockgether, T., Reetz, K., van de Warrenburg, B. P., Santana, M. M., Silva, P., Cunha, I., de Almeida, L. P., Timmann, D., Infante, J., de Vries, J., Lima, M., Pires, P., Bushara, K., & 6 anderenJacobi, H., Onyike, C., Schmahmann, J. D., Hübener-Schmid, J., Synofzik, M. & Schöls, L., 2023, In: Journal of Neurology. blz. 944–952

Onderzoeksoutput › Academic › peer review

A resting-state fMRI pattern of spinocerebellar ataxia type 3 and comparison with F-18-FDG PET

van der Horn, H. J., Meles, S. K., Kok, J. G., Vergara, V. M., Qi, S., Calhoun, V. D., Dalenberg, J. R., Siero, J. C. W., Renken, R. J., de Vries, J. J., Spikman, J. M., Kremer, H. P. H. & De Jong, B. M., 25-apr.-2022, In: NeuroImage. Clinical. 34, 10 blz., 103023.

Onderzoeksoutput › Academic › peer review

CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation

ESMI MRI Study Group, Faber, J., Kügler, D., Bahrami, E., Heinz, L. S., Timmann, D., Ernst, T. M., Deike-Hofmann, K., Klockgether, T., van de Warrenburg, B., van Gaalen, J., Reetz, K., Romanzetti, S., Oz, G., Joers, J. M., Diedrichsen, J. & Reuter, M., 1-dec.-2022, In: Neuroimage. 264, 15 blz., 119703.

Onderzoeksoutput › Academic › peer review

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity

Hengel, H., Martus, P., Faber, J., Garcia-Moreno, H., Solanky, N., Giunti, P., Klockgether, T., Reetz, K., van de Warrenburg, B. P., Pereira de Almeida, L., Santana, M. M., Januário, C., Silva, P., Thieme, A., Infante, J., de Vries, J., Lima, M., Ferreira, A. F., Bushara, K., Jacobi, H., & 5 anderenOnyike, C., Schmahmann, J. D., Hübener-Schmid, J., Synofzik, M. & Schöls, L., feb.-2022, In: Movement Disorders. 37, 2, blz. 405-410 6 blz.

Onderzoeksoutput › Academic › peer review