Dr.med. ID: 3171113

Eva Wibbeler

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Publications

  1. 2024
  2. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

    Schulz, A., Specchio, N., de Los Reyes, E., Gissen, P., Nickel, M., Trivisano, M., Aylward, S. C., Chakrapani, A., Schwering, C., Wibbeler, E., Westermann, L. M., Ballon, D. J., Dyke, J. P., Cherukuri, A., Bondade, S., Slasor, P. & Cohen Pfeffer, J., 01.2024, In: LANCET NEUROL. 23, 1, p. 60-70 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. 2023
  4. 2022
  5. Visual perception and macular integrity in non-classical CLN2 disease

    Atiskova, Y., Wildner, J., Wibbeler, E., Nickel, M., Spitzer, M. S., Schwering, C., Schulz, A. & Dulz, S., 11.2022, In: GRAEF ARCH CLIN EXP. 260, 11, p. 3693-3700 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  6. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

    Wibbeler, E., Nickel, M., Schwering, C., Schulz, A. & Mink, J. W., 05.2022, In: EUR J PAEDIATR NEURO. 38, p. 62-65 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. 2021
  8. Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

    Gissen, P., Specchio, N., Olaye, A., Jain, M., Butt, T., Ghosh, W., Ruban-Fell, B., Griffiths, A., Camp, C., Sisic, Z., Schwering, C., Wibbeler, E., Trivisano, M., Lee, L., Nickel, M., Mortensen, A. & Schulz, A., 12.05.2021, In: ORPHANET J RARE DIS. 16, 1, 217.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series

    Wibbeler, E., Wang, R., Reyes, E. D. L., Specchio, N., Gissen, P., Guelbert, N., Nickel, M., Schwering, C., Lehwald, L., Trivisano, M., Lee, L., Amato, G., Cohen-Pfeffer, J., Shediac, R., Leal-Pardinas, F. & Schulz, A., 05.2021, In: J CHILD NEUROL. 36, 6, p. 468-474 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  10. 2020
  11. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity

    Rietdorf, K., Coode, E. E., Schulz, A., Wibbeler, E., Bootman, M. D. & Ostergaard, J. R., 01.09.2020, In: BBA-MOL BASIS DIS. 1866, 9, 165643.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  12. An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease

    Dulz, S., Atiskova, Y., Wibbeler, E., Wildner, J. E., Wagenfeld, L., Schwering, C., Nickel, M., Bartsch, U., Spitzer, M. & Schulz, A., 21.07.2020, In: AM J OPHTHALMOL. 220, p. 64-71

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  13. 2018
  14. Study of Intraventricular Cerliponase Alfa for CLN2 Disease

    Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., Kohlschütter, A. & CLN2 Study Group, 17.05.2018, In: NEW ENGL J MED. 378, 20, p. 1898-1907 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. 2012
  16. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

    Abicht, A., Dusl, M., Gallenmüller, C., Guergueltcheva, V., Schara, U., Della Marina, A., Wibbeler, E., Almaras, S., Mihaylova, V., von der Hagen, M., Huebner, A., Chaouch, A., Müller, J. S. & Lochmüller, H., 10.2012, In: HUM MUTAT. 33, 10, p. 1474-84 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review