Marieke van der Knoop

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4 Article

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Van Der Knoop, M. M., Maroofian, R., Fukata, Y., Van Ierland, Y., Karimiani, E. G., Lehesjoki, A. E., Muona, M., Paetau, A., Miyazaki, Y., Hirano, Y., Selim, L., De França, M., Fock, R. A., Beetz, C., Ruivenkamp, C. A. L., Eaton, A. J., Morneau-Jacob, F. D., Sagi-Dain, L., Shemer-Meiri, L., Peleg, A., & 28 othersHaddad-Halloun, J., Kamphuis, D. J., Peeters-Scholte, C. M. P. C. D., Kurul, S. H., Horvath, R., Lochmöller, H., Murphy, D., Waldmöller, S., Spranger, S., Overberg, D., Muir, A. M., Rad, A., Vona, B., Abdulwahad, F., Maddirevula, S., Povolotskaya, I. S., Voinova, V. Y., Gowda, V. K., Srinivasan, V. M., Alkuraya, F. S., Mefford, H. C., Alfadhel, M., Haack, T. B., Striano, P., Severino, M., Fukata, M., Hilhorst-Hofstee, Y. & Houlden, H., Jul 2022, In: Brain. 145, 7, p. 2301-2312 12 p.
Research output: Contribution to journal › Article › Academic › peer-review

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3 Citations (Scopus)

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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Groeneweg, S., van Geest, F., Abaci, A., Alcantud, A., Ambegaonkar, GP., Armour, CM., van Beynum, I., Coo, IFM., Dolcetta-Capuzzo, A., Dremmen, M., van der Knoop, M., de Wit, M. C., Uil, C., Zwaveling-Soonawala, N. & Visser, E., 2020, In: The Lancet Diabetes and Endocrinology. 8, 7, p. 594-605 12 p.
Research output: Contribution to journal › Article › Academic

40 Citations (Scopus)
Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis
the CHANCE Study Group, de Bruijn, M., Aarsen, F., van Oosterhout, MP., van der Knoop, M., Catsman - Berrevoets, C., Schreurs, M., Bastiaansen, D., Sillevis Smitt, P., Neuteboom, R. & Titulaer, M., 2018, In: Neurology. 90, 22, p. E1997-E2005
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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91 Citations (Scopus)

15 Downloads (Pure)
Toward a Conceptualization of the Content of Psychosocial Screening in Living Organ Donors: An Ethical Legal Psychological Aspects of Transplantation Consensus
Ismail, S., Duerinckx, N., van der Knoop, M., Timmerman, L., Weimar, W., Dobbels, F., Massey, E. & van Busschbach, J., 2015, In: Transplantation. 99, 11, p. 2413-2421 9 p.
Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

Marieke van der Knoop

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Collaborations and top research areas from the last five years

Dive into details

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis

Toward a Conceptualization of the Content of Psychosocial Screening in Living Organ Donors: An Ethical Legal Psychological Aspects of Transplantation Consensus

Marieke van der Knoop

Fingerprint

Collaborations and top research areas from the last five years

Research output

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis

Toward a Conceptualization of the Content of Psychosocial Screening in Living Organ Donors: An Ethical Legal Psychological Aspects of Transplantation Consensus