20062019

Research output per year

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Research Output

  • 7 Article
  • 1 Erratum / corrigendum

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J. & Ginjaar, I., Aug 2019, In : Clinical Genetics. 96, 2, p. 126-133 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)

Hayhurst, H., de Coo, I. F. M., Piekutowska-Abramczuk, D., Alston, C. L., Sharma, S., Thompson, K., Rius, R., He, L., Hopton, S., Ploski, R., Ciara, E., Lake, N. J., Compton, A. G., Delatycki, M. B., Verrips, A., Bonnen, P. E., Jones, S. A., Morris, A. A., Shakespeare, D., Christodoulou, J. & 9 others, Wesol-Kucharska, D., Rokicki, D., Smeets, H. J. M., Pronicka, E., Thorburn, D. R., Gorman, G. S., McFarland, R., Taylor, R. W. & Ng, Y. S., Apr 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 821-821 1 p.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rotig, A., Ardissone, A., Lombes, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D. & 37 others, Ding, W., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Haberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 19 Jul 2018, In : Orphanet Journal of Rare Diseases. 13, 10 p., 120.

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

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice

Yadak, R., Boot, M. V., van Til, N. P., Cazals-Hatem, D., Finkenstedt, A., Bogaerts, E., de Coo, I. F. & Bugiani, M., 19 Oct 2018, In : BMC Gastroenterology. 18, 6 p., 149.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access