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Research Output 2011 2019

  • 12 Article
  • 1 Comment/Letter to the editor

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E-J., van de Warrenburg, B. P. & Willemsen, M. A., 2019, In : Brain. 142, 7, p. e31

Research output: Contribution to journalArticleAcademicpeer-review

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest

Isrie, M., Wong, L., van Hagen, J. M. & Houweling, A. C., 2019, In : Netherlands Heart Journal. 27, 1, p. 54-55

Research output: Contribution to journalComment/Letter to the editorAcademic

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 othersHorn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 1 Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Siekierska, A., Isrie, M., Liu, Y., Scheldeman, C., Vanthillo, N., Lagae, L., Witte, P. A. M. D., Esch, H. V., Goldfarb, M. & Buyse, G. M., 7 Jun 2016, In : Neurology. 86, 23, p. 2162-2170 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., Keersmaecker, B. D., Kayserili, H., Brandenberger, S., Kraoua, I., Mark, P. R., McKanna, T., Keirsbilck, J. V., Moerman, P., Poretti, A. & 4 othersPuri, R., Esch, H. V., Gleeson, J. G. & Valente, E. M., 1 Sep 2016, In : Journal of Medical Genetics. 53, 9, p. 608-615 8 p.

Research output: Contribution to journalArticleAcademicpeer-review


Ben ter Haar prize

Mala Misra-Isrie (Recipient), 2018