1. 2022
  2. Polar metabolomics in human muscle biopsies using a liquid-liquid extraction and full-scan LC-MS

    Schomakers, B. V., Hermans, J., Jaspers, Y. R. J., Salomons, G., Vaz, F. M., van Weeghel, M. & Houtkooper, R. H., 17 Jun 2022, In: STAR Protocols. 3, 2, 101302.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al

    Leidi, A., Previtali, R., Parazzini, C., Raviglione, F., Carelli, S., Mendes, M. I., Salomons, G. S., Iascone, M. & Tonduti, D., 1 May 2022, In: Genetics in medicine. 24, 5, p. 1152-1153 2 p.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  4. 2021
  5. Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly (Nature Communications, (2020), 11, 1, (4038), 10.1038/s41467-020-17454-4)

    Wang, L., Li, Z., Sievert, D., Smith, D. E. C., Mendes, M. I., Chen, D. Y., Stanley, V., Ghosh, S., Wang, Y., Kara, M., Aslanger, A. D., Rosti, R. O., Houlden, H., Salomons, G. S. & Gleeson, J. G., 1 Dec 2021, In: Nature communications. 12, 1, 1192.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  6. Heterogenous clinical landscape in a consanguineous malonic aciduria family

    Snanoudj, S., Torre, S., Sudrié-Arnaud, B. N., Abily-Donval, L., Goldenberg, A., Salomons, G. S., Marret, S., Bekri, S. & Tebani, A., 1 Dec 2021, In: International journal of molecular sciences. 22, 23, 12633.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

    Ravel, J-M., Dreumont, N., Mosca, P., Smith, D. E. C., Mendes, M. I., Wiedemann, A., Coelho, D., Schmitt, E., Rivière, J-B., Tran Mau-Them, F., Thevenon, J., Kuentz, P., Polivka, M., Fuchs, S. A., Kok, G., Thauvin-Robinet, C., Guéant, J-L., Salomons, G. S., Faivre, L. & Feillet, F., Dec 2021, In: Human mutation. 42, 12, p. 1576-1583 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Expanded phenotype of AARS1-related white matter disease

    Helman, G., Mendes, M. I., Nicita, F., Darbelli, L., Sherbini, O., Moore, T., Derksen, A., Amy Pizzino, Carrozzo, R., Torraco, A., Catteruccia, M., Aiello, C., Goffrini, P., Figuccia, S., Smith, D. E. C., Hadzsiev, K., Hahn, A., Biskup, S., Brösse, I., Kotzaeridou, U. & 17 others, Gauck, D., Grebe, T. A., Elmslie, F., Stals, K., Gupta, R., Bertini, E., Thiffault, I., Taft, R. J., Schiffmann, R., Brandl, U., Haack, T. B., Salomons, G. S., Simons, C., Bernard, G., van der Knaap, M. S., Vanderver, A. & Husain, R. A., Dec 2021, In: Genetics in medicine. 23, 12, p. 2352-2359 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

    Tjon, J. K., Lakeman, P., van Leeuwen, E., Waisfisz, Q., Weiss, M. M., Tan-Sindhunata, G. M. B., Nikkels, P. G. J., van der Voorn, P. J. P., Salomons, G. S., Burchell, G. L., Linskens, I. H., van der Knoop, B. J. & de Vries, J. I. P., Nov 2021, In: Molecular genetics and genomic medicine. 9, 11, e1827.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. Treatment of ARS deficiencies with specific amino acids

    Kok, G., Tseng, L., Schene, I. F., Dijsselhof, M. E., Salomons, G., Mendes, M. I., Smith, D. E. C., Wiedemann, A., Canton, M., Feillet, F., de Koning, T. J., Boothe, M., Dean, J., Kassel, R., Ferreira, E. A., van den Born, M., Nieuwenhuis, E. E. S., Rehmann, H., Terheggen-Lagro, S. W. J., van Karnebeek, C. D. M. & 1 others, Fuchs, S. A., Nov 2021, In: Genetics in medicine. 23, 11, p. 2202-2207 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

    Botta, E., Theil, A. F., Raams, A., Caligiuri, G., Giachetti, S., Bione, S., Accadia, M., Lombardi, A., Smith, D. E. C., Mendes, M. I., Swagemakers, S. M. A., van der Spek, P. J., Salomons, G. S., Hoeijmakers, J. H. J., Yesodharan, D., Nampoothiri, S., Ogi, T., Lehmann, A. R., Orioli, D. & Vermeulen, W., 15 Sep 2021, In: Human molecular genetics. 30, 18, p. 1711-1720 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  12. Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

    Minenkova, A., Jansen, E. E. W., Cameron, J., Barto, R., Hurd, T., MacNeil, L., Salomons, G. S. & Mercimek-Andrews, S., 1 Sep 2021, In: PLoS ONE. 16, 9 September, e0257073.

    Research output: Contribution to journalArticleAcademicpeer-review

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