Gajja Salomons

PROF.DR., (Principal Investigator)

20062020

Research output per year

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Research Output

Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes (Metabolic Brain Disease, (2020), 35, 4, (601-614), 10.1007/s11011-020-00550-1)

Kirby, T., Walters, D. C., Brown, M., Jansen, E., Salomons, G. S., Turgeon, C., Rinaldo, P., Arning, E., Ashcraft, P., Bottiglieri, T., Roullet, J. B. & Gibson, K. M., 1 Jan 2020, (Accepted/In press) In : METABOLIC BRAIN DISEASE. 35, 5, 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B. P. & Wolf, N. I., 1 Jan 2020, (Accepted/In press) In : Neurogenetics.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic

Al Balushi, A., Matviychuk, D., Jobling, R., Salomons, G. S., Blaser, S. & Mercimek-Andrews, S., 1 Jan 2020, In : JIMD Reports. 51, 1, p. 3-10 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

Kirby, T., Walters, D. C., Brown, M., Jansen, E., Salomons, G. S., Turgeon, C., Rinaldo, P., Arning, E., Ashcraft, P., Bottiglieri, T., Roullet, J. B. & Gibson, K. M., 1 Jan 2020, (Accepted/In press) In : METABOLIC BRAIN DISEASE. 35, 4, 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Friedman, J., Smith, D. E., Issa, M. Y., Stanley, V., Wang, R., Mendes, M. I., Wright, M. S., Wigby, K., Hildreth, A., Crawford, J. R., Koehler, A. E., Chowdhury, S., Nahas, S., Zhai, L., Xu, Z., Lo, W-S., James, K. N., Musaev, D., Accogli, A., Guerrero, K. & 9 others, Tran, L. T., Omar, T. E. I., Ben-Omran, T., Dimmock, D., Kingsmore, S. F., Salomons, G. S., Zaki, M. S., Bernard, G. & Gleeson, J. G., 1 Dec 2019, In : Nature Communications. 10, 1, 707.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access