36 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. 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
3. 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
4. Cpxm2 as a novel candidate for cardiac hypertrophy and failure in hypertension

   1. Grabowski, Katja
   2. Herlan, Laura
   3. Witten, Anika
   4. Qadri, Fatimunnisa
   5. Eisenreich, Andreas
   6. Lindner, Diana
   7. Schädlich, Martin

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
5. 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
6. Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report

   1. Schwering, Christoph
   2. Apostolidou, Sofia
   3. Deindl, Philipp
   4. Christner, Martin
   5. Knobloch, Johannes K-M
   6. Herrmann, Jochen
   7. Kobbe, Robin

   2022 - Forschungsinformationssystem des UKE
7. Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration

   1. Kim, Aryun
   2. Grover, Anita
   3. Hammon, Kevin
   4. de Hart, Greg
   5. Slasor, Peter
   6. Cherukuri, Anu
   7. Ajayi, Temitayo

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
8. 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
9. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

   1. Mole, Sara E
   2. Schulz, Angela
   3. Badoe, Eben
   4. Berkovic, Samuel F
   5. de Los Reyes, Emily C
   6. Dulz, Simon
   7. Gissen, Paul

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
10. 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
11. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity

    1. Rietdorf, Katja
    2. Coode, Emily E
    3. Schulz, Angela
    4. Wibbeler, Eva
    5. Bootman, Martin D
    6. Ostergaard, John R

    2020 - Forschungsinformationssystem des UKE
12. Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry

    1. Maeser, Stefan
    2. Petre, Brindusa-Alina
    3. Ion, Laura
    4. Rawer, Stephan
    5. Kohlschütter, Alfried
    6. Santorelli, Filippo M
    7. Simonati, Alessandro

    2020 - Forschungsinformationssystem des UKE - frei zugänglich
13. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

    1. Mole, Sara E
    2. Anderson, Glenn
    3. Band, Heather A
    4. Berkovic, Samuel F
    5. Cooper, Jonathan D
    6. Kleine Holthaus, Sophia-Martha
    7. McKay, Tristan R

    2019 - Forschungsinformationssystem des UKE - frei zugänglich
14. 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
15. Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone

    1. Cook, Arron
    2. Boesch, Sylvia
    3. Heck, Suzette
    4. Brunt, Ewout
    5. Klockgether, Thomas
    6. Schöls, Ludger
    7. Schulz, Angela

    2019 - Forschungsinformationssystem des UKE
16. Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

    1. Kohlschütter, Alfried
    2. Schulz, Angela
    3. Bartsch, Udo
    4. Storch, Stephan

    2019 - Forschungsinformationssystem des UKE
17. 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
18. Neurodegenerative Erkrankungen des Kindesalters

    1. Schulz, Angela
    2. Nickel, Miriam

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
19. Autophagic vacuolar myopathy is a common feature in CLN3 disease

    1. Radke, J
    2. Koll, Randi
    3. Gill, Esther
    4. Wiese, L
    5. Schulz, Angela
    6. Kohlschütter, Alfried
    7. Schuelke, Markus

    2018 - Forschungsinformationssystem des UKE
20. Study of Intraventricular Cerliponase Alfa for CLN2 Disease

    1. Schulz, Angela
    2. Ajayi, Temitayo
    3. Specchio, Nicola
    4. de Los Reyes, Emily
    5. Gissen, Paul
    6. Ballon, Douglas
    7. Dyke, Jonathan P

    2018 - Forschungsinformationssystem des UKE