Amsterdam Neuroscience
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Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells
Vallee, I., Shapiro, R., Qi, L., Mendes, M. I., Smith, D. E. C., Zhang, Q., Kanaji, T., Kuhle, B. & Yang, X.-L., 1 Oct 2025, In: Journal of biological chemistry. 301, 10, 110690.Research output: Contribution to journal › Article › Academic › peer-review
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Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype
Aelvoet, Y., Verloo, P., Vanlander, A., Vande Velde, S., van Biervliet, S., de Bruyne, P., Hoste, L., Dheedene, A., Pottie, L., Hoorens, A., Mendes, M. & de Bruyne, R., 1 May 2025, In: JIMD Reports. 66, 3, e70013.Research output: Contribution to journal › Article › Academic › peer-review
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Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
del Greco, C., Kuo, M. E., Smith, D. E. C., Mendes, M. I., Salamons, G. S., Nemcovic, M., Kodrikova, R., Sestak, S., Stancheva, M. & Antonellis, A., 1 Feb 2025, In: Molecular Genetics and Genomic Medicine. 13, 2, e70078.Research output: Contribution to journal › Article › Academic › peer-review
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