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Debby Hellebrekers

Drs.

20062020

Research output per year

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Research Output

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Hellebrekers, D. M. E. I., Blakely, E. L., Hendrickx, A. T. M., Hardy, S. A., Hopton, S., Falkous, G., de Coo, I. F. M., Smeets, H. J. M., van der Beek, N. M. E. & Taylor, R. W., Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 693-697 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 537-551 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

Baertling, F., Sanchez-Caballero, L., van den Brand, M. A. M., Fung, C. -W., Chan, S. H. -S., Wong, V. C. -N., Hellebrekers, D. M. E., de Coo, I. F. M., Smeitink, J. A. M., Rodenburg, R. J. T. & Nijtmans, L. G. J., 1 Jan 2018, In : Clinical Genetics. 93, 1, p. 111-118 8 p.

Research output: Contribution to journalArticleAcademicpeer-review