Research output per year
Research output per year
Research output
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A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's
van Dijk, T., Barth, P., Reneman, L., Appelhof, B., Baas, F. & Poll-The, B. T., 2017, In: American Journal of Medical Genetics. Part A. 173A, 1, p. 207-212Research output: Contribution to journal › Article › Academic › peer-review
25 Citations (Scopus) -
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
Chatzispyrou, I. A., Alders, M., Guerrero-Castillo, S., Zapata Perez, R., Haagmans, M. A., Mouchiroud, L., Koster, J., Ofman, R., Baas, F., Waterham, H. R., Spelbrink, J. N., Auwerx, J., Mannens, M. M., Houtkooper, R. H. & Plomp, A. S., 2017, In: Human Molecular Genetics. 26, 13, p. 2541-2550Research output: Contribution to journal › Article › Academic › peer-review
47 Citations (Scopus) -
Complement C3 on microglial clusters in multiple sclerosis occur in chronic but not acute disease: Implication for disease pathogenesis
Michailidou, I., Naessens, D. M. P., Hametner, S., Guldenaar, W., Kooi, E. J., Geurts, J. J. G., Baas, F., Lassmann, H. & Ramaglia, V., 1 Feb 2017, In: GLIA. 65, 2, p. 264-277 14 p.Research output: Contribution to journal › Article › Academic › peer-review
36 Citations (Scopus)