Johanna van Hagen

DR.

20012019
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Research Output 2001 2019

  • 33 Article
  • 4 Review article
  • 1 Comment/Letter to the editor

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

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., Xiangwei, W., Williams, D., Maas, S. M., Brooks, A. S., Mancini, G. M. S., van de Laar, I. M. B. H., van Hagen, J. M., Ware, T. L., Webster, R. I., Malone, S., Berkovic, S. F., Kalnins, R. M. & 8 othersSicca, F., Korenke, G. C., van Ravenswaaij-Arts, C. M. A., Hildebrand, M. S., Mefford, H. C., Jiang, Y., Guerrini, R. & Scheffer, I. E., 2019, In : Neurology. 92, 2, p. E96-E107

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., de Grandis, E. & 19 othersAltmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S. & Gleeson, J. G., 2018, In : American journal of human genetics. 103, 3, p. 431-439

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Further delineation of Malan syndrome

Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P. A., Tenorio, J., Kooblall, K., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & 34 othersHuber, I., Iascone, M., Kaiser, A-S., Kamath, A., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Menke, L. A., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R. M., van Haeringen, A., van Hagen, J. M., Zollino, M., Lapunzina, P., Thakker, R. V., Zenker, M. & Hennekam, R. C., 2018, In : Human Mutation. 39, 9, p. 1226-1237

Research output: Contribution to journalArticleAcademicpeer-review

Open Access