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Visual perception and macular integrity in non-classical CLN2 disease.
Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer MS, Schwering C, Schulz A, Dulz S. Atiskova Y, et al. Among authors: schwering c. Graefes Arch Clin Exp Ophthalmol. 2022 Nov;260(11):3693-3700. doi: 10.1007/s00417-022-05662-1. Epub 2022 Jun 2. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 35652945 Free PMC article.
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Wibbeler E, Wang R, Reyes EL, 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. Wibbeler E, et al. Among authors: schwering c. J Child Neurol. 2021 May;36(6):468-474. doi: 10.1177/0883073820977997. Epub 2020 Dec 23. J Child Neurol. 2021. PMID: 33356800 Free PMC article.
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. Gissen P, et al. Among authors: schwering c. Orphanet J Rare Dis. 2021 May 12;16(1):217. doi: 10.1186/s13023-021-01829-x. Orphanet J Rare Dis. 2021. PMID: 33980287 Free PMC article.
Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease).
Dulz S, Schwering C, Wildner J, Spartalis C, Schuettauf F, Bartsch U, Wibbeler E, Nickel M, Spitzer MS, Atiskova Y, Schulz A. Dulz S, et al. Among authors: schwering c. Br J Ophthalmol. 2023 Oct;107(10):1478-1483. doi: 10.1136/bjo-2022-321260. Epub 2022 Jun 30. Br J Ophthalmol. 2023. PMID: 35772852
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 SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Schulz A, et al. Among authors: schwering c. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8. Lancet Neurol. 2024. PMID: 38101904
Best practices for the use of intracerebroventricular drug delivery devices.
Slavc I, Cohen-Pfeffer JL, Gururangan S, Krauser J, Lim DA, Maldaun M, Schwering C, Shaywitz AJ, Westphal M. Slavc I, et al. Among authors: schwering c. Mol Genet Metab. 2018 Jul;124(3):184-188. doi: 10.1016/j.ymgme.2018.05.003. Epub 2018 May 16. Mol Genet Metab. 2018. PMID: 29793829 Free article.
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