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Medientyp
- Text 18
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Erscheinungsjahr
Autor/in
- Nickel, Miriam
- Schulz, Angela 13
- Kohlschütter, Alfried 6
- Wibbeler, Eva 6
- Schwering, Christoph 5
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Sprache
18 Einträge gefunden
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Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
- Dulz, Simon
- Schwering, C
- Wildner, Jan
- Spartalis, Christoph
- Schuettauf, Frank
- Bartsch, Udo
- Wibbeler, Eva
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The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
2022 - Forschungsinformationssystem des UKE -
Visual perception and macular integrity in non-classical CLN2 disease
- Atiskova, Yevgeniya
- Wildner, Jan
- Wibbeler, Eva
- Nickel, Miriam
- Spitzer, Martin Stephan
- Schwering, Christoph
- Schulz, Angela
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Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series
- Wibbeler, Eva
- Wang, Raymond
- Reyes, Emily de Los
- Specchio, Nicola
- Gissen, Paul
- Guelbert, Norberto
- Nickel, Miriam
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Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
- Schwering, Christoph
- Kammler, Gertrud
- Wibbeler, Eva
- Christner, Martin
- Knobloch, Johannes K-M
- Nickel, Miriam
- Denecke, Jonas
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Management of CLN1 Disease: International Clinical Consensus
- Augustine, Erika F
- Adams, Heather R
- de Los Reyes, Emily
- Drago, Kristen
- Frazier, Margie
- Guelbert, Norberto
- Laine, Minna
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An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease
- Dulz, Simon
- Atiskova, Yevgeniya
- Wibbeler, Eva
- Wildner, Jan Einar
- Wagenfeld, Lars
- Schwering, Christoph
- Nickel, Miriam
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First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy
2020 - Forschungsinformationssystem des UKE -
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An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
- Wyrwich, K W
- Schulz, Angela
- Nickel, Miriam
- Slasor, Peter
- Ajayi, Temitayo
- Jacoby, David
- Kohlschütter, Alfried
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Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
- Nickel, Miriam
- Simonati, Alessandro
- Jacoby, David
- Lezius, Susanne
- Kilian, Dirk
- Van de Graaf, Benjamin
- Pagovich, Odelya E
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POLR3A and POLR3B Mutations in Unclassified Hypomyelination
- Cayami, Ferdy K
- La Piana, Roberta
- van Spaendonk, Rosalina M L
- Nickel, Miriam
- Bley, Annette
- Guerrero, Kether
- Tran, Luan T
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Demenzerkrankungen bei Kindern und Jugendlichen
2015 - Forschungsinformationssystem des UKE -
Unexplained Loss of Vision in a Child::Consider Bilateral Primary Optic Nerve Sheath Meningioma
- Nickel, Miriam
- Löbel, Ulrike
- Holst, Brigitte
- Kammler, Gertrud
- Matschke, Jakob
- Schulz, Angela
- Kohlschütter, Alfried
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Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
- Löbel, Ulrike
- Schweser, Ferdinand
- Nickel, Miriam
- Deistung, Andreas
- Grosse, Regine
- Hagel, Christian
- Fiehler, Jens