16 Einträge gefunden

1. Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

   1. Dulz, Simon
   2. Schwering, C
   3. Wildner, Jan
   4. Spartalis, Christoph
   5. Schuettauf, Frank
   6. Bartsch, Udo
   7. Wibbeler, Eva

   2023 - Forschungsinformationssystem des UKE
2. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

   1. Wibbeler, Eva
   2. Nickel, Miriam
   3. Schwering, Christoph
   4. Schulz, Angela
   5. Mink, Jonathan W

   2022 - Forschungsinformationssystem des UKE
3. Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

   1. Nickel, Miriam
   2. Schulz, Angela

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. Visual perception and macular integrity in non-classical CLN2 disease

   1. Atiskova, Yevgeniya
   2. Wildner, Jan
   3. Wibbeler, Eva
   4. Nickel, Miriam
   5. Spitzer, Martin Stephan
   6. Schwering, Christoph
   7. Schulz, Angela

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
5. 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

   1. Schwering, Christoph
   2. Kammler, Gertrud
   3. Wibbeler, Eva
   4. Christner, Martin
   5. Knobloch, Johannes K-M
   6. Nickel, Miriam
   7. Denecke, Jonas

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
6. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series

   1. Wibbeler, Eva
   2. Wang, Raymond
   3. Reyes, Emily de Los
   4. Specchio, Nicola
   5. Gissen, Paul
   6. Guelbert, Norberto
   7. Nickel, Miriam

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
7. Management of CLN1 Disease: International Clinical Consensus

   1. Augustine, Erika F
   2. Adams, Heather R
   3. de Los Reyes, Emily
   4. Drago, Kristen
   5. Frazier, Margie
   6. Guelbert, Norberto
   7. Laine, Minna

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
8. First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

   1. Kohlschütter, Alfried
   2. Finckh, Barbara
   3. Nickel, Miriam
   4. Bley, Annette
   5. Hübner, Christoph

   2020 - Forschungsinformationssystem des UKE
9. An ophthalmic rating scale to assess ocular involvement in juvenile CLN3 disease

   1. Dulz, Simon
   2. Atiskova, Yevgeniya
   3. Wibbeler, Eva
   4. Wildner, Jan Einar
   5. Wagenfeld, Lars
   6. Schwering, Christoph
   7. Nickel, Miriam

   2020 - Forschungsinformationssystem des UKE
10. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

    1. Lukacs, Zoltan
    2. Nickel, Miriam
    3. Murko, Simona
    4. Nieves Cobos, Paulina
    5. Schulz, Angela
    6. Santer, René
    7. Kohlschütter, Alfried

    2019 - Forschungsinformationssystem des UKE
11. An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

    1. Wyrwich, K W
    2. Schulz, Angela
    3. Nickel, Miriam
    4. Slasor, Peter
    5. Ajayi, Temitayo
    6. Jacoby, David
    7. Kohlschütter, Alfried

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
12. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

    1. Nickel, Miriam
    2. Simonati, Alessandro
    3. Jacoby, David
    4. Lezius, Susanne
    5. Kilian, Dirk
    6. Van de Graaf, Benjamin
    7. Pagovich, Odelya E

    2018 - Forschungsinformationssystem des UKE
13. Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

    1. Johannsen, Jessika
    2. Nickel, Miriam
    3. Schulz, Angela
    4. Denecke, Jonas

    2016 - Forschungsinformationssystem des UKE
14. POLR3A and POLR3B Mutations in Unclassified Hypomyelination

    1. Cayami, Ferdy K
    2. La Piana, Roberta
    3. van Spaendonk, Rosalina M L
    4. Nickel, Miriam
    5. Bley, Annette
    6. Guerrero, Kether
    7. Tran, Luan T

    2015 - Forschungsinformationssystem des UKE
15. Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

    1. Löbel, Ulrike
    2. Schweser, Ferdinand
    3. Nickel, Miriam
    4. Deistung, Andreas
    5. Grosse, Regine
    6. Hagel, Christian
    7. Fiehler, Jens

    2014 - Forschungsinformationssystem des UKE - frei zugänglich
16. Unexplained Loss of Vision in a Child::Consider Bilateral Primary Optic Nerve Sheath Meningioma

    1. Nickel, Miriam
    2. Löbel, Ulrike
    3. Holst, Brigitte
    4. Kammler, Gertrud
    5. Matschke, Jakob
    6. Schulz, Angela
    7. Kohlschütter, Alfried

    2014 - Forschungsinformationssystem des UKE